psui3905/ncbi_genes_summary huggingface dataset:
SHARPIN, Official Symbol SHARPINprovided by HGNC Official Full Name SHANK associated RH domain interactorprovided by HGNC Primary source HGNC:HGNC:25321 See related Ensembl:ENSG00000179526 MIM:611885; AllianceGenome:HGNC:25321 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SIPL1 Summary Enables polyubiquitin modification-dependent protein binding activity. Involved in protein linear polyubiquitination and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 39.8), fat (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
SHB, Official Symbol SHBprovided by HGNC Official Full Name SH2 domain containing adaptor protein Bprovided by HGNC Primary source HGNC:HGNC:10838 See related Ensembl:ENSG00000107338 MIM:600314; AllianceGenome:HGNC:10838 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as bA3J10.2 Summary Enables phosphotyrosine residue binding activity. Predicted to be involved in several processes, including angiogenesis; apoptotic process; and signal transduction. Predicted to act upstream of or within several processes, including hematopoietic stem cell proliferation; negative regulation of oocyte maturation; and positive regulation of immune response. Located in cytoplasmic ribonucleoprotein granule; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 4.9), kidney (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
SHBG, Official Symbol SHBGprovided by HGNC Official Full Name sex hormone binding globulinprovided by HGNC Primary source HGNC:HGNC:10839 See related Ensembl:ENSG00000129214 MIM:182205; AllianceGenome:HGNC:10839 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ABP; SBP; TEBG Summary This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Biased expression in liver (RPKM 11.7), testis (RPKM 2.8) and 3 other tissues See more Orthologs mouse all
SHC1, Official Symbol SHC1provided by HGNC Official Full Name SHC adaptor protein 1provided by HGNC Primary source HGNC:HGNC:10840 See related Ensembl:ENSG00000160691 MIM:600560; AllianceGenome:HGNC:10840 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHC; SHCA Summary This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in fat (RPKM 25.3), gall bladder (RPKM 24.7) and 25 other tissues See more Orthologs mouse all
SHC2, Official Symbol SHC2provided by HGNC Official Full Name SHC adaptor protein 2provided by HGNC Primary source HGNC:HGNC:29869 See related Ensembl:ENSG00000129946 MIM:605217; AllianceGenome:HGNC:29869 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCK; SLI; SHCB Summary Predicted to enable receptor tyrosine kinase binding activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 10.2), gall bladder (RPKM 9.1) and 24 other tissues See more Orthologs mouse all
SHC3, Official Symbol SHC3provided by HGNC Official Full Name SHC adaptor protein 3provided by HGNC Primary source HGNC:HGNC:18181 See related Ensembl:ENSG00000148082 MIM:605263; AllianceGenome:HGNC:18181 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAI; NSHC; SHCC; N-Shc Summary Enables phosphotyrosine residue binding activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within glutamatergic synaptic transmission and learning or memory. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 9.5), adrenal (RPKM 2.7) and 2 other tissues See more Orthologs mouse all
SHC4, Official Symbol SHC4provided by HGNC Official Full Name SHC adaptor protein 4provided by HGNC Primary source HGNC:HGNC:16743 See related Ensembl:ENSG00000185634 MIM:617372; AllianceGenome:HGNC:16743 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RaLP; SHCD Summary Predicted to enable receptor tyrosine kinase binding activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within several processes, including apoptotic process; positive regulation of cell population proliferation; and stem cell differentiation. Predicted to be located in postsynaptic membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 6.4), brain (RPKM 2.8) and 5 other tissues See more Orthologs mouse all
SHCBP1, Official Symbol SHCBP1provided by HGNC Official Full Name SHC binding and spindle associated 1provided by HGNC Primary source HGNC:HGNC:29547 See related Ensembl:ENSG00000171241 MIM:611027; AllianceGenome:HGNC:29547 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAL Summary Predicted to enable SH2 domain binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway and regulation of neural precursor cell proliferation. Predicted to be located in cytoplasm; midbody; and spindle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 5.2), lymph node (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
SHCBP1L, Official Symbol SHCBP1Lprovided by HGNC Official Full Name SHC binding and spindle associated 1 likeprovided by HGNC Primary source HGNC:HGNC:16788 See related Ensembl:ENSG00000157060 MIM:619514; AllianceGenome:HGNC:16788 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GE36; C1orf14 Summary This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016] Expression Restricted expression toward testis (RPKM 73.5) See more Orthologs mouse all
SHD, Official Symbol SHDprovided by HGNC Official Full Name Src homology 2 domain containing transforming protein Dprovided by HGNC Primary source HGNC:HGNC:30633 See related Ensembl:ENSG00000105251 MIM:610481; AllianceGenome:HGNC:30633 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable phosphotyrosine residue binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.5), heart (RPKM 2.0) and 5 other tissues See more Orthologs mouse all
SHE, Official Symbol SHEprovided by HGNC Official Full Name Src homology 2 domain containing Eprovided by HGNC Primary source HGNC:HGNC:27004 See related Ensembl:ENSG00000169291 MIM:610482; AllianceGenome:HGNC:27004 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable phosphotyrosine residue binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 8.7), lung (RPKM 6.4) and 22 other tissues See more Orthologs mouse all
SHF, Official Symbol SHFprovided by HGNC Official Full Name Src homology 2 domain containing Fprovided by HGNC Primary source HGNC:HGNC:25116 See related Ensembl:ENSG00000138606 MIM:617313; AllianceGenome:HGNC:25116 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable phosphotyrosine residue binding activity. Predicted to be involved in apoptotic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 4.2), ovary (RPKM 4.0) and 23 other tissues See more Orthologs mouse all
SHFL, Official Symbol SHFLprovided by HGNC Official Full Name shiftless antiviral inhibitor of ribosomal frameshiftingprovided by HGNC Primary source HGNC:HGNC:25649 See related Ensembl:ENSG00000130813 MIM:616808; AllianceGenome:HGNC:25649 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SFL; IRAV; RyDEN; C19orf66 Summary This gene is an interferon stimulated gene (ISG) that inhibits viral replication. The encoded protein binds nucleic acids and inhibits programmed -1 ribosomal frameshifting required for translation by many RNA viruses. Viruses inhibited by the protein include Zika virus, dengue virus and the coronaviruses, SARS-CoV and SARS-CoV2. [provided by RefSeq, Aug 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in liver (RPKM 17.9), spleen (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
SHH, Official Symbol SHHprovided by HGNC Official Full Name sonic hedgehog signaling moleculeprovided by HGNC Primary source HGNC:HGNC:10848 See related Ensembl:ENSG00000164690 MIM:600725; AllianceGenome:HGNC:10848 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TPT; HHG1; HLP3; HPE3; SMMCI; ShhNC; TPTPS; MCOPCB5 Summary This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 3.1), urinary bladder (RPKM 2.9) and 10 other tissues See more Orthologs mouse all
SHISA2, Official Symbol SHISA2provided by HGNC Official Full Name shisa family member 2provided by HGNC Primary source HGNC:HGNC:20366 See related Ensembl:ENSG00000180730 MIM:617324; AllianceGenome:HGNC:20366 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM46; hShisa; C13orf13; PRO28631; WGAR9166; bA398O19.2 Summary Predicted to be involved in negative regulation of Wnt signaling pathway and negative regulation of fibroblast growth factor receptor signaling pathway. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 17.4), lung (RPKM 4.1) and 3 other tissues See more Orthologs mouse all
SHISA3, Official Symbol SHISA3provided by HGNC Official Full Name shisa family member 3provided by HGNC Primary source HGNC:HGNC:25159 See related Ensembl:ENSG00000178343 MIM:617325; AllianceGenome:HGNC:25159 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hShisa3 Summary This gene encodes a single-transmembrane protein which is one of nine members of a family of transmembrane adaptors that modulate both WNT and FGF signaling by blocking the maturation and transport of their receptors to the cell surface. Members of this family contain an N-terminal cysteine-rich domain with a distinct cysteine pattern, a single transmembrane domain, and a C-terminal proline-rich, low complexity region. The encoded protein acts as a tumor suppressor by accelerating beta-catenin degradation. [provided by RefSeq, Jul 2017] Expression Biased expression in kidney (RPKM 14.3), lymph node (RPKM 4.2) and 12 other tissues See more Orthologs mouse all
SHISA4, Official Symbol SHISA4provided by HGNC Official Full Name shisa family member 4provided by HGNC Primary source HGNC:HGNC:27139 See related Ensembl:ENSG00000198892 MIM:617326; AllianceGenome:HGNC:27139 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM58; C1orf40 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 26.3), heart (RPKM 17.4) and 19 other tissues See more Orthologs mouse all
SHISA5, Official Symbol SHISA5provided by HGNC Official Full Name shisa family member 5provided by HGNC Primary source HGNC:HGNC:30376 See related Ensembl:ENSG00000164054 MIM:607290; AllianceGenome:HGNC:30376 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCOTIN Summary This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in placenta (RPKM 49.3), spleen (RPKM 32.3) and 25 other tissues See more Orthologs mouse all
SHISA5P1, Official Symbol SHISA5P1provided by HGNC Official Full Name SHISA5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54937 See related AllianceGenome:HGNC:54937 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SHISA5P2, Official Symbol SHISA5P2provided by HGNC Official Full Name SHISA5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54993 See related AllianceGenome:HGNC:54993 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SHISA6, Official Symbol SHISA6provided by HGNC Official Full Name shisa family member 6provided by HGNC Primary source HGNC:HGNC:34491 See related Ensembl:ENSG00000188803 MIM:617327; AllianceGenome:HGNC:34491 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable ionotropic glutamate receptor binding activity. Predicted to be involved in several processes, including excitatory chemical synaptic transmission; regulation of short-term neuronal synaptic plasticity; and regulation of signal transduction. Predicted to be located in asymmetric, glutamatergic, excitatory synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in glutamatergic synapse; postsynaptic density; and synaptic membrane. Predicted to be integral component of postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.7), endometrium (RPKM 2.0) and 9 other tissues See more Orthologs mouse all
SHISA7, Official Symbol SHISA7provided by HGNC Official Full Name shisa family member 7provided by HGNC Primary source HGNC:HGNC:35409 See related Ensembl:ENSG00000187902 MIM:617328; AllianceGenome:HGNC:35409 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CKAMP59 Summary Predicted to enable GABA receptor binding activity and ionotropic glutamate receptor binding activity. Predicted to be involved in several processes, including gamma-aminobutyric acid receptor clustering; regulation of signaling receptor activity; and regulation of synaptic plasticity. Predicted to be located in asymmetric, glutamatergic, excitatory synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in glutamatergic synapse; postsynaptic density; and synaptic membrane. Predicted to be integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 7.7), testis (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
SHISA8, Official Symbol SHISA8provided by HGNC Official Full Name shisa family member 8provided by HGNC Primary source HGNC:HGNC:18351 See related Ensembl:ENSG00000234965 MIM:617329; AllianceGenome:HGNC:18351 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Orf26; C22orf17 Summary Predicted to be involved in regulation of AMPA receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; postsynaptic density; and postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 5.8), brain (RPKM 5.6) and 23 other tissues See more Orthologs mouse all
SHISA9, Official Symbol SHISA9provided by HGNC Official Full Name shisa family member 9provided by HGNC Primary source HGNC:HGNC:37231 See related Ensembl:ENSG00000237515 MIM:613346; AllianceGenome:HGNC:37231 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CKAMP44 Summary Predicted to enable PDZ domain binding activity. Predicted to be involved in regulation of AMPA receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to be located in synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in glutamatergic synapse; postsynaptic density; and synaptic membrane. Predicted to be integral component of postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 3.5), prostate (RPKM 1.1) and 3 other tissues See more Orthologs mouse all
SHISAL1, Official Symbol SHISAL1provided by HGNC Official Full Name shisa like 1provided by HGNC Primary source HGNC:HGNC:29335 See related Ensembl:ENSG00000138944 MIM:620220; AllianceGenome:HGNC:29335 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIAA1644 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in endometrium (RPKM 16.5), brain (RPKM 11.5) and 7 other tissues See more Orthologs mouse all
SHISAL2A, Official Symbol SHISAL2Aprovided by HGNC Official Full Name shisa like 2Aprovided by HGNC Primary source HGNC:HGNC:28757 See related Ensembl:ENSG00000182183 MIM:620218; AllianceGenome:HGNC:28757 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM159A; PRO7171; WWLS2783 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 1.5), spleen (RPKM 0.8) and 8 other tissues See more Orthologs mouse all
SHISAL2B, Official Symbol SHISAL2Bprovided by HGNC Official Full Name shisa like 2Bprovided by HGNC Primary source HGNC:HGNC:34236 See related Ensembl:ENSG00000145642 MIM:620219; AllianceGenome:HGNC:34236 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM159B Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 2.5), pancreas (RPKM 0.8) and 3 other tissues See more Orthologs mouse all
SHKBP1, Official Symbol SHKBP1provided by HGNC Official Full Name SH3KBP1 binding protein 1provided by HGNC Primary source HGNC:HGNC:19214 See related Ensembl:ENSG00000160410 MIM:617322; AllianceGenome:HGNC:19214 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Sb1; PP203 Summary Enables identical protein binding activity. Predicted to be involved in positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in lysosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 24.5), spleen (RPKM 23.9) and 25 other tissues See more Orthologs mouse all
SHLD1, Official Symbol SHLD1provided by HGNC Official Full Name shieldin complex subunit 1provided by HGNC Primary source HGNC:HGNC:26318 See related Ensembl:ENSG00000171984 MIM:618028; AllianceGenome:HGNC:26318 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RINN3; C20orf196 Summary Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 1.6), adrenal (RPKM 1.1) and 24 other tissues See more Orthologs mouse all
SHLD2, Official Symbol SHLD2provided by HGNC Official Full Name shieldin complex subunit 2provided by HGNC Primary source HGNC:HGNC:28773 See related Ensembl:ENSG00000122376 MIM:618029; AllianceGenome:HGNC:28773 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RINN2; FAM35A; FAM35A1; bA163M19.1 Summary Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in nucleus and site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 20.9), thyroid (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
SHLD2P1, Official Symbol SHLD2P1provided by HGNC Official Full Name shieldin complex subunit 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31425 See related Ensembl:ENSG00000165874 AllianceGenome:HGNC:31425 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM35B; FAM35BP; FAM35EP; bA38L15.1 Expression Ubiquitous expression in liver (RPKM 6.4), kidney (RPKM 5.8) and 25 other tissues See more
SHLD3, Official Symbol SHLD3provided by HGNC Official Full Name shieldin complex subunit 3provided by HGNC Primary source HGNC:HGNC:53826 See related Ensembl:ENSG00000253251 MIM:618030; AllianceGenome:HGNC:53826 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RINN1; CTC-534A2.2 Summary Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SHMT1, Official Symbol SHMT1provided by HGNC Official Full Name serine hydroxymethyltransferase 1provided by HGNC Primary source HGNC:HGNC:10850 See related Ensembl:ENSG00000176974 MIM:182144; AllianceGenome:HGNC:10850 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHMT; CSHMT Summary This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Biased expression in kidney (RPKM 121.9), liver (RPKM 84.9) and 13 other tissues See more Orthologs mouse all
SHMT1P1, Official Symbol SHMT1P1provided by HGNC Official Full Name SHMT1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:10851 See related AllianceGenome:HGNC:10851 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHMT1P; SHMT-ps1
SHMT2, Official Symbol SHMT2provided by HGNC Official Full Name serine hydroxymethyltransferase 2provided by HGNC Primary source HGNC:HGNC:10852 See related Ensembl:ENSG00000182199 MIM:138450; AllianceGenome:HGNC:10852 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLYA; SHMT; mSHMT; NEDCASB; HEL-S-51e Summary This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in liver (RPKM 35.4), lymph node (RPKM 21.8) and 25 other tissues See more Orthologs mouse all
SHOC1, Official Symbol SHOC1provided by HGNC Official Full Name shortage in chiasmata 1provided by HGNC Primary source HGNC:HGNC:26535 See related Ensembl:ENSG00000165181 MIM:618038; AllianceGenome:HGNC:26535 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZIP2; MZIP2; ZIP2H; SPGF75; C9orf84 Summary Enables single-stranded DNA binding activity. Predicted to be involved in resolution of meiotic recombination intermediates. Predicted to be located in chromosome. Predicted to be active in condensed nuclear chromosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 5.2) See more Orthologs mouse all
SHOC2, Official Symbol SHOC2provided by HGNC Official Full Name SHOC2 leucine rich repeat scaffold proteinprovided by HGNC Primary source HGNC:HGNC:15454 See related Ensembl:ENSG00000108061 MIM:602775; AllianceGenome:HGNC:15454 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SOC2; SUR8; NSLH1; SIAA0862 Summary This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010] Expression Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
SHOX, Official Symbol SHOXprovided by HGNC Official Full Name SHOX homeoboxprovided by HGNC Primary source HGNC:HGNC:10853 See related Ensembl:ENSG00000185960 Ensembl:ENSG00000292354 MIM:312865; MIM:400020; AllianceGenome:HGNC:10853 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SS; GCFX; PHOG; SHOX1; SHOXY Summary This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
SHOX2, Official Symbol SHOX2provided by HGNC Official Full Name SHOX homeobox 2provided by HGNC Primary source HGNC:HGNC:10854 See related Ensembl:ENSG00000168779 MIM:602504; AllianceGenome:HGNC:10854 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OG12; SHOT; OG12X Summary This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] Expression Biased expression in fat (RPKM 3.0), lymph node (RPKM 1.2) and 4 other tissues See more Orthologs mouse all
SHPK, Official Symbol SHPKprovided by HGNC Official Full Name sedoheptulokinaseprovided by HGNC Primary source HGNC:HGNC:1492 See related Ensembl:ENSG00000197417 MIM:605060; AllianceGenome:HGNC:1492 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHK; CARKL Summary The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 7.3), duodenum (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
SHPRH, Official Symbol SHPRHprovided by HGNC Official Full Name SNF2 histone linker PHD RING helicaseprovided by HGNC Primary source HGNC:HGNC:19336 See related Ensembl:ENSG00000146414 MIM:608048; AllianceGenome:HGNC:19336 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAD5; bA545I5.2 Summary SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in ovary (RPKM 1.7), thyroid (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
SHQ1, Official Symbol SHQ1provided by HGNC Official Full Name SHQ1, H/ACA ribonucleoprotein assembly factorprovided by HGNC Primary source HGNC:HGNC:25543 See related Ensembl:ENSG00000144736 MIM:613663; AllianceGenome:HGNC:25543 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DYT35; NEDDS; Shq1p; GRIM-1 Summary SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010] Expression Ubiquitous expression in testis (RPKM 2.9), thyroid (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
SHQ1P1, Official Symbol SHQ1P1provided by HGNC Official Full Name SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:45013 See related AllianceGenome:HGNC:45013 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SHROOM1, Official Symbol SHROOM1provided by HGNC Official Full Name shroom family member 1provided by HGNC Primary source HGNC:HGNC:24084 See related Ensembl:ENSG00000164403 MIM:611179; AllianceGenome:HGNC:24084 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APXL2 Summary SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] Expression Broad expression in prostate (RPKM 16.8), urinary bladder (RPKM 6.1) and 15 other tissues See more Orthologs mouse all
SHROOM2, Official Symbol SHROOM2provided by HGNC Official Full Name shroom family member 2provided by HGNC Primary source HGNC:HGNC:630 See related Ensembl:ENSG00000146950 MIM:300103; AllianceGenome:HGNC:630 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APXL; HSAPXL Summary This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] Expression Broad expression in ovary (RPKM 2.6), placenta (RPKM 2.6) and 21 other tissues See more Orthologs mouse all
SHROOM3, Official Symbol SHROOM3provided by HGNC Official Full Name shroom family member 3provided by HGNC Primary source HGNC:HGNC:30422 See related Ensembl:ENSG00000138771 MIM:604570; AllianceGenome:HGNC:30422 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHRM; APXL3; ShrmL; MSTP013 Summary This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] Expression Broad expression in colon (RPKM 6.8), gall bladder (RPKM 5.4) and 20 other tissues See more Orthologs mouse all
SHROOM3-AS1, Official Symbol SHROOM3-AS1provided by HGNC Official Full Name SHROOM3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41265 See related AllianceGenome:HGNC:41265 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
SHROOM4, Official Symbol SHROOM4provided by HGNC Official Full Name shroom family member 4provided by HGNC Primary source HGNC:HGNC:29215 See related Ensembl:ENSG00000158352 MIM:300579; AllianceGenome:HGNC:29215 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHAP; shrm4; MRXSSDS Summary This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017] Expression Broad expression in lung (RPKM 5.3), fat (RPKM 2.8) and 19 other tissues See more Orthologs mouse all
SHTN1, Official Symbol SHTN1provided by HGNC Official Full Name shootin 1provided by HGNC Primary source HGNC:HGNC:29319 See related Ensembl:ENSG00000187164 MIM:611171; AllianceGenome:HGNC:29319 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIAA1598; shootin-1 Summary Enables identical protein binding activity. Involved in positive regulation of neuron migration. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 8.9), thyroid (RPKM 3.4) and 23 other tissues See more Orthologs mouse all
SI, Official Symbol SIprovided by HGNC Official Full Name sucrase-isomaltaseprovided by HGNC Primary source HGNC:HGNC:10856 See related Ensembl:ENSG00000090402 MIM:609845; AllianceGenome:HGNC:10856 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010] Expression Biased expression in duodenum (RPKM 299.9), small intestine (RPKM 254.2) and 1 other tissue See more Orthologs mouse all
SIAE, Official Symbol SIAEprovided by HGNC Official Full Name sialic acid acetylesteraseprovided by HGNC Primary source HGNC:HGNC:18187 See related Ensembl:ENSG00000110013 MIM:610079; AllianceGenome:HGNC:18187 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LSE; AIS6; CSEC; YSG2; CSE-C Summary This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011] Expression Broad expression in colon (RPKM 39.1), thyroid (RPKM 19.2) and 21 other tissues See more Orthologs mouse all
SIAH1, Official Symbol SIAH1provided by HGNC Official Full Name siah E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:10857 See related Ensembl:ENSG00000196470 MIM:602212; AllianceGenome:HGNC:10857 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BURHAS; SIAH1A Summary This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 15.8), testis (RPKM 9.6) and 25 other tissues See more Orthologs mouse all