psui3905/ncbi_genes_summary huggingface dataset:
CLEC3A, Official Symbol CLEC3Aprovided by HGNC Official Full Name C-type lectin domain family 3 member Aprovided by HGNC Primary source HGNC:HGNC:2052 See related Ensembl:ENSG00000166509 MIM:613588; AllianceGenome:HGNC:2052 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 CLECSF1 Summary Predicted to enable carbohydrate binding activity. Predicted to be involved in ossification. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in urinary bladder (RPKM 4.3), gall bladder (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
CLEC3B, Official Symbol CLEC3Bprovided by HGNC Official Full Name C-type lectin domain family 3 member Bprovided by HGNC Primary source HGNC:HGNC:11891 See related Ensembl:ENSG00000163815 MIM:187520; AllianceGenome:HGNC:11891 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 TN; TNA; MCDR4 Summary Enables calcium ion binding activity; heparin binding activity; and kringle domain binding activity. Involved in bone mineralization and cellular response to transforming growth factor beta stimulus. Located in cytoplasm; extracellular space; and granular component. Part of collagen-containing extracellular matrix. Implicated in osteoarthritis. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 63.9), fat (RPKM 63.1) and 20 other tissues See more Orthologs mouse all
CLEC4A, Official Symbol CLEC4Aprovided by HGNC Official Full Name C-type lectin domain family 4 member Aprovided by HGNC Primary source HGNC:HGNC:13257 See related Ensembl:ENSG00000111729 MIM:605306; AllianceGenome:HGNC:13257 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 DCIR; LLIR; CD367; DDB27; hDCIR; CLECSF6; HDCGC13P Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 5.2), bone marrow (RPKM 2.2) and 20 other tissues See more Orthologs all
CLEC4C, Official Symbol CLEC4Cprovided by HGNC Official Full Name C-type lectin domain family 4 member Cprovided by HGNC Primary source HGNC:HGNC:13258 See related Ensembl:ENSG00000198178 MIM:606677; AllianceGenome:HGNC:13258 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 DLEC; HECL; BDCA2; CD303; BDCA-2; CLECSF7; CLECSF11; PRO34150 Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 1.5), spleen (RPKM 0.9) and 6 other tissues See more Orthologs all
CLEC4D, Official Symbol CLEC4Dprovided by HGNC Official Full Name C-type lectin domain family 4 member Dprovided by HGNC Primary source HGNC:HGNC:14554 See related Ensembl:ENSG00000166527 MIM:609964; AllianceGenome:HGNC:14554 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 MCL; MPCL; CD368; CLEC6; CLEC-6; CLECSF8; Dectin-3 Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 17.6), appendix (RPKM 4.0) and 1 other tissue See more Orthologs mouse all
CLEC4E, Official Symbol CLEC4Eprovided by HGNC Official Full Name C-type lectin domain family 4 member Eprovided by HGNC Primary source HGNC:HGNC:14555 See related Ensembl:ENSG00000166523 MIM:609962; AllianceGenome:HGNC:14555 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 MINCLE; CLECSF9 Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 10.3), spleen (RPKM 8.6) and 11 other tissues See more Orthologs mouse all
CLEC4F, Official Symbol CLEC4Fprovided by HGNC Official Full Name C-type lectin domain family 4 member Fprovided by HGNC Primary source HGNC:HGNC:25357 See related Ensembl:ENSG00000152672 MIM:620105; AllianceGenome:HGNC:25357 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 KCR; KCLR; CLECSF13 Summary Predicted to enable galactose binding activity and glycolipid binding activity. Predicted to be involved in endocytosis. Predicted to act upstream of or within NK T cell activation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 1.6), spleen (RPKM 1.4) and 17 other tissues See more Orthologs mouse all
CLEC4G, Official Symbol CLEC4Gprovided by HGNC Official Full Name C-type lectin domain family 4 member Gprovided by HGNC Primary source HGNC:HGNC:24591 See related Ensembl:ENSG00000182566 MIM:616256; AllianceGenome:HGNC:24591 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 LP2698; UNQ431; DTTR431; LSECtin Summary This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the immune response. C-type lectin receptors are pattern recognition receptors located on immune cells that play a role in the recognition and uptake of both self and non-self glycoproteins as well as mediating cell adhesion, glycoprotein clearance, and cell signaling functions. This gene's protein binds complex-type N-glycans of the viral envelope proteins of Ebola virus, West Nile filovirus, and SARS coronavirus, but not HIV or hepatitis C virus. In mouse, this protein has been shown to recognize activated T-cells and to negatively regulate T-cell receptor-mediated signalling. It also acts as a novel, liver-specific regulator of NK cell-mediated immunity in mouse. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Biased expression in liver (RPKM 17.2), lymph node (RPKM 6.5) and 4 other tissues See more Orthologs mouse all
CLEC4M, Official Symbol CLEC4Mprovided by HGNC Official Full Name C-type lectin domain family 4 member Mprovided by HGNC Primary source HGNC:HGNC:13523 See related Ensembl:ENSG00000104938 MIM:605872; AllianceGenome:HGNC:13523 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 CD299; LSIGN; CD209L; L-SIGN; DCSIGNR; HP10347; DC-SIGN2; DC-SIGNR Summary This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including tuberculosis mycobacteria, and viruses including Ebola, hepatitis C, HIV-1, influenza A, West Nile virus and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain of variable length, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CD209 (Gene ID: 30835), also known as DC-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression in endothelial cells of the liver, lymph node and placenta. Polymorphisms in the tandem repeat neck domain are associated with resistance to SARS infection. [provided by RefSeq, May 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis. Expression Biased expression in liver (RPKM 15.4), lymph node (RPKM 9.8) and 3 other tissues See more Orthologs all
CLEC5A, Official Symbol CLEC5Aprovided by HGNC Official Full Name C-type lectin domain containing 5Aprovided by HGNC Primary source HGNC:HGNC:2054 See related Ensembl:ENSG00000258227 MIM:604987; AllianceGenome:HGNC:2054 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 MDL1; MDL-1; CLECSF5 Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 12.6), appendix (RPKM 4.1) and 6 other tissues See more Orthologs mouse all
CLEC6A, Official Symbol CLEC6Aprovided by HGNC Official Full Name C-type lectin domain containing 6Aprovided by HGNC Primary source HGNC:HGNC:14556 See related Ensembl:ENSG00000205846 MIM:613579; AllianceGenome:HGNC:14556 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 CLEC4N; CLECSF10; dectin-2; hDECTIN-2 Summary The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Low expression observed in reference dataset See more Orthologs all
CLEC7A, Official Symbol CLEC7Aprovided by HGNC Official Full Name C-type lectin domain containing 7Aprovided by HGNC Primary source HGNC:HGNC:14558 See related Ensembl:ENSG00000172243 MIM:606264; AllianceGenome:HGNC:14558 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 BGR; CD369; CANDF4; SCARE2; DECTIN1; CLECSF12 Summary This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 22.1), bone marrow (RPKM 11.8) and 17 other tissues See more Orthologs mouse all
CLEC9A, Official Symbol CLEC9Aprovided by HGNC Official Full Name C-type lectin domain containing 9Aprovided by HGNC Primary source HGNC:HGNC:26705 See related Ensembl:ENSG00000197992 MIM:612252; AllianceGenome:HGNC:26705 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 CD370; DNGR1; DNGR-1; UNQ9341 Summary CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008] Expression Broad expression in lymph node (RPKM 3.7), spleen (RPKM 2.7) and 16 other tissues See more Orthologs mouse all
CLGN, Official Symbol CLGNprovided by HGNC Official Full Name calmeginprovided by HGNC Primary source HGNC:HGNC:2060 See related Ensembl:ENSG00000153132 MIM:601858; AllianceGenome:HGNC:2060 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 Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 66.0), heart (RPKM 22.6) and 2 other tissues See more Orthologs mouse all
CLHC1, Official Symbol CLHC1provided by HGNC Official Full Name clathrin heavy chain linker domain containing 1provided by HGNC Primary source HGNC:HGNC:26453 See related Ensembl:ENSG00000162994 AllianceGenome:HGNC:26453 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 C2orf63 Expression Broad expression in testis (RPKM 1.3), thyroid (RPKM 0.8) and 24 other tissues See more Orthologs mouse all
CLIC1, Official Symbol CLIC1provided by HGNC Official Full Name chloride intracellular channel 1provided by HGNC Primary source HGNC:HGNC:2062 See related Ensembl:ENSG00000213719 MIM:602872; AllianceGenome:HGNC:2062 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 G6; CL1C1; NCC27; CLCNL1 Summary Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 110.8), bone marrow (RPKM 106.5) and 25 other tissues See more Orthologs mouse all
CLIC2, Official Symbol CLIC2provided by HGNC Official Full Name chloride intracellular channel 2provided by HGNC Primary source HGNC:HGNC:2063 See related Ensembl:ENSG00000155962 MIM:300138; AllianceGenome:HGNC:2063 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 CLCNL2; CLIC2b; MRXS32; XAP121 Summary This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017] Expression Broad expression in spleen (RPKM 21.8), thyroid (RPKM 19.2) and 23 other tissues See more Orthologs all
CLIC3, Official Symbol CLIC3provided by HGNC Official Full Name chloride intracellular channel 3provided by HGNC Primary source HGNC:HGNC:2064 See related Ensembl:ENSG00000169583 MIM:606533; AllianceGenome:HGNC:2064 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 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 23.8), thyroid (RPKM 21.4) and 5 other tissues See more Orthologs mouse all
CLIC4, Official Symbol CLIC4provided by HGNC Official Full Name chloride intracellular channel 4provided by HGNC Primary source HGNC:HGNC:13518 See related Ensembl:ENSG00000169504 MIM:606536; AllianceGenome:HGNC:13518 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 H1; huH1; p64H1; CLIC4L; MTCLIC Summary Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 129.1), kidney (RPKM 121.8) and 25 other tissues See more Orthologs mouse all
CLIC5, Official Symbol CLIC5provided by HGNC Official Full Name chloride intracellular channel 5provided by HGNC Primary source HGNC:HGNC:13517 See related Ensembl:ENSG00000112782 MIM:607293; AllianceGenome:HGNC:13517 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 MST130; DFNB102; DFNB103; MSTP130 Summary This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Biased expression in lung (RPKM 21.7), heart (RPKM 20.0) and 10 other tissues See more Orthologs mouse all
CLIC6, Official Symbol CLIC6provided by HGNC Official Full Name chloride intracellular channel 6provided by HGNC Primary source HGNC:HGNC:2065 See related Ensembl:ENSG00000159212 MIM:615321; AllianceGenome:HGNC:2065 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 CLIC1L Summary This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015] Expression Biased expression in stomach (RPKM 24.4), thyroid (RPKM 6.8) and 10 other tissues See more Orthologs mouse all
CLINT1, Official Symbol CLINT1provided by HGNC Official Full Name clathrin interactor 1provided by HGNC Primary source HGNC:HGNC:23186 See related Ensembl:ENSG00000113282 MIM:607265; AllianceGenome:HGNC:23186 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 ENTH; EPN4; EPNR; CLINT Summary This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in bone marrow (RPKM 39.0), gall bladder (RPKM 37.4) and 25 other tissues See more Orthologs mouse all
CLIP1, Official Symbol CLIP1provided by HGNC Official Full Name CAP-Gly domain containing linker protein 1provided by HGNC Primary source HGNC:HGNC:10461 See related Ensembl:ENSG00000130779 MIM:179838; AllianceGenome:HGNC:10461 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 RSN; CLIP; CYLN1; CLIP170; CLIP-170 Summary The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in thyroid (RPKM 36.8), esophagus (RPKM 33.7) and 25 other tissues See more Orthologs mouse all
CLIP1-AS1, Official Symbol CLIP1-AS1provided by HGNC Official Full Name CLIP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48586 See related AllianceGenome:HGNC:48586 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 Biased expression in testis (RPKM 1.1), thyroid (RPKM 0.6) and 6 other tissues See more
CLIP2, Official Symbol CLIP2provided by HGNC Official Full Name CAP-Gly domain containing linker protein 2provided by HGNC Primary source HGNC:HGNC:2586 See related Ensembl:ENSG00000106665 MIM:603432; AllianceGenome:HGNC:2586 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 CLIP; CYLN2; WSCR3; WSCR4; WBSCR3; WBSCR4; CLIP-115 Summary The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 29.5), colon (RPKM 11.1) and 21 other tissues See more Orthologs mouse all
CLIP3, Official Symbol CLIP3provided by HGNC Official Full Name CAP-Gly domain containing linker protein 3provided by HGNC Primary source HGNC:HGNC:24314 See related Ensembl:ENSG00000105270 MIM:607382; AllianceGenome:HGNC:24314 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 RSNL1; CLIPR59; CLIPR-59 Summary This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 97.6), endometrium (RPKM 19.6) and 9 other tissues See more Orthologs mouse all
CLIP4, Official Symbol CLIP4provided by HGNC Official Full Name CAP-Gly domain containing linker protein family member 4provided by HGNC Primary source HGNC:HGNC:26108 See related Ensembl:ENSG00000115295 AllianceGenome:HGNC:26108 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 RSNL2 Summary Predicted to enable microtubule plus-end binding activity. Predicted to be involved in cytoplasmic microtubule organization. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 10.8), skin (RPKM 7.6) and 23 other tissues See more Orthologs mouse all
CLK1, Official Symbol CLK1provided by HGNC Official Full Name CDC like kinase 1provided by HGNC Primary source HGNC:HGNC:2068 See related Ensembl:ENSG00000013441 MIM:601951; AllianceGenome:HGNC:2068 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 CLK; STY; CLK/STY Summary This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in bone marrow (RPKM 96.5), lymph node (RPKM 51.9) and 25 other tissues See more Orthologs mouse all
CLK2, Official Symbol CLK2provided by HGNC Official Full Name CDC like kinase 2provided by HGNC Primary source HGNC:HGNC:2069 See related Ensembl:ENSG00000176444 MIM:602989; AllianceGenome:HGNC:2069 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 dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in spleen (RPKM 18.0), lymph node (RPKM 16.4) and 25 other tissues See more Orthologs mouse all
CLK3, Official Symbol CLK3provided by HGNC Official Full Name CDC like kinase 3provided by HGNC Primary source HGNC:HGNC:2071 See related Ensembl:ENSG00000179335 MIM:602990; AllianceGenome:HGNC:2071 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 PHCLK3; PHCLK3/152 Summary This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 16.0), testis (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
CLK4, Official Symbol CLK4provided by HGNC Official Full Name CDC like kinase 4provided by HGNC Primary source HGNC:HGNC:13659 See related Ensembl:ENSG00000113240 MIM:607969; AllianceGenome:HGNC:13659 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 The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 15.9), bone marrow (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
CLLU1, Official Symbol CLLU1provided by HGNC Official Full Name chronic lymphocytic leukemia up-regulated 1provided by HGNC Primary source HGNC:HGNC:29841 See related Ensembl:ENSG00000257127 MIM:616988; AllianceGenome:HGNC:29841 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017] Expression Low expression observed in reference dataset See more Orthologs all
CLLU1-AS1, Official Symbol CLLU1-AS1provided by HGNC Official Full Name CLLU1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:24070 See related Ensembl:ENSG00000205057 MIM:616989; AllianceGenome:HGNC:24070 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLLU1OS Expression Low expression observed in reference dataset See more Orthologs all
CLMAT3, Official Symbol CLMAT3provided by HGNC Official Full Name colorectal liver metastasis associated transcript 3provided by HGNC Primary source HGNC:HGNC:52287 See related Ensembl:ENSG00000249035 AllianceGenome:HGNC:52287 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPARC-AS1; CTB-113P19.1 Expression Broad expression in fat (RPKM 19.7), placenta (RPKM 11.8) and 18 other tissues See more
CLMN, Official Symbol CLMNprovided by HGNC Official Full Name calminprovided by HGNC Primary source HGNC:HGNC:19972 See related Ensembl:ENSG00000165959 MIM:611121; AllianceGenome:HGNC:19972 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 actin filament binding activity. Predicted to be involved in negative regulation of cell population proliferation and nuclear migration. Predicted to act upstream of or within neuron projection development. Predicted to be integral component of membrane. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in cytoplasm and nuclear outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.5), kidney (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
CLMP, Official Symbol CLMPprovided by HGNC Official Full Name CXADR like membrane proteinprovided by HGNC Primary source HGNC:HGNC:24039 See related Ensembl:ENSG00000166250 MIM:611693; AllianceGenome:HGNC:24039 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 ACAM; ASAM; CSBM; CSBS Summary This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015] Expression Broad expression in fat (RPKM 45.1), endometrium (RPKM 20.9) and 17 other tissues See more Orthologs mouse all
CLN3, Official Symbol CLN3provided by HGNC Official Full Name CLN3 lysosomal/endosomal transmembrane protein, batteninprovided by HGNC Primary source HGNC:HGNC:2074 See related Ensembl:ENSG00000188603 MIM:607042; AllianceGenome:HGNC:2074 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 BTS; BTN1; JNCL Summary This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 23.0), colon (RPKM 17.0) and 25 other tissues See more Orthologs mouse all
CLN5, Official Symbol CLN5provided by HGNC Official Full Name CLN5 intracellular trafficking proteinprovided by HGNC Primary source HGNC:HGNC:2076 See related Ensembl:ENSG00000102805 MIM:608102; AllianceGenome:HGNC:2076 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 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008] Expression Ubiquitous expression in thyroid (RPKM 44.6), kidney (RPKM 19.6) and 24 other tissues See more Orthologs mouse all
CLN6, Official Symbol CLN6provided by HGNC Official Full Name CLN6 transmembrane ER proteinprovided by HGNC Primary source HGNC:HGNC:2077 See related Ensembl:ENSG00000128973 MIM:606725; AllianceGenome:HGNC:2077 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 nclf; CLN4A; CLN6A; HsT18960 Summary This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in bone marrow (RPKM 12.1), colon (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
CLN8, Official Symbol CLN8provided by HGNC Official Full Name CLN8 transmembrane ER and ERGIC proteinprovided by HGNC Primary source HGNC:HGNC:2079 See related Ensembl:ENSG00000182372 MIM:607837; AllianceGenome:HGNC:2079 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 EPMR; TLCD6; C8orf61 Summary This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 5.7), spleen (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
CLNK, Official Symbol CLNKprovided by HGNC Official Full Name cytokine dependent hematopoietic cell linkerprovided by HGNC Primary source HGNC:HGNC:17438 See related Ensembl:ENSG00000109684 MIM:611434; AllianceGenome:HGNC:17438 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 MIST Summary MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008] Expression Biased expression in kidney (RPKM 1.1), lymph node (RPKM 0.5) and 12 other tissues See more Orthologs mouse all
CLNS1A, Official Symbol CLNS1Aprovided by HGNC Official Full Name chloride nucleotide-sensitive channel 1Aprovided by HGNC Primary source HGNC:HGNC:2080 See related Ensembl:ENSG00000074201 MIM:602158; AllianceGenome:HGNC:2080 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 CLCI; ICln; CLNS1B Summary This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in adrenal (RPKM 36.6), brain (RPKM 32.8) and 25 other tissues See more Orthologs mouse all
CLNS1AP1, Official Symbol CLNS1AP1provided by HGNC Official Full Name chloride nucleotide-sensitive channel 1A pseudogene 1provided by HGNC Primary source HGNC:HGNC:2081 See related Ensembl:ENSG00000213335 AllianceGenome:HGNC:2081 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 ICln; CLNS1B
CLOCK, Official Symbol CLOCKprovided by HGNC Official Full Name clock circadian regulatorprovided by HGNC Primary source HGNC:HGNC:2082 See related Ensembl:ENSG00000134852 MIM:601851; AllianceGenome:HGNC:2082 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 KAT13D; bHLHe8 Summary The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in testis (RPKM 7.8), thyroid (RPKM 6.2) and 24 other tissues See more Orthologs mouse all
CLP1, Official Symbol CLP1provided by HGNC Official Full Name cleavage factor polyribonucleotide kinase subunit 1provided by HGNC Primary source HGNC:HGNC:16999 See related Ensembl:ENSG00000172409 MIM:608757; AllianceGenome:HGNC:16999 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 HEAB; hClp1 Summary This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] Expression Ubiquitous expression in bone marrow (RPKM 9.5), appendix (RPKM 6.4) and 25 other tissues See more Orthologs mouse all