psui3905/ncbi_genes_summary huggingface dataset:
PAEP, Official Symbol PAEPprovided by HGNC Official Full Name progestagen associated endometrial proteinprovided by HGNC Primary source HGNC:HGNC:8573 See related Ensembl:ENSG00000122133 MIM:173310; AllianceGenome:HGNC:8573 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 GD; GdA; GdF; GdS; PEP; PAEG; PP14; ZIF-1 Summary This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Restricted expression toward endometrium (RPKM 125.9) See more Orthologs all
PAEPP1, Official Symbol PAEPP1provided by HGNC Official Full Name progestagen associated endometrial protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:49600 See related Ensembl:ENSG00000224045 AllianceGenome:HGNC:49600 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAF1, Official Symbol PAF1provided by HGNC Official Full Name PAF1 homolog, Paf1/RNA polymerase II complex componentprovided by HGNC Primary source HGNC:HGNC:25459 See related Ensembl:ENSG00000006712 MIM:610506; AllianceGenome:HGNC:25459 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 PD2; F23149_1 Summary This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in testis (RPKM 32.1), ovary (RPKM 17.7) and 25 other tissues See more Orthologs mouse all
PAFAH1B1, Official Symbol PAFAH1B1provided by HGNC Official Full Name platelet activating factor acetylhydrolase 1b regulatory subunit 1provided by HGNC Primary source HGNC:HGNC:8574 See related Ensembl:ENSG00000007168 MIM:601545; AllianceGenome:HGNC:8574 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 MDS; LIS1; LIS2; MDCR; NudF; PAFAH Summary This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009] Expression Ubiquitous expression in brain (RPKM 59.5), testis (RPKM 32.6) and 25 other tissues See more Orthologs mouse all
PAFAH1B1P2, Official Symbol PAFAH1B1P2provided by HGNC Official Full Name platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:8578 See related AllianceGenome:HGNC:8578 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 LIS2P; PAFAH1P2
PAFAH1B2, Official Symbol PAFAH1B2provided by HGNC Official Full Name platelet activating factor acetylhydrolase 1b catalytic subunit 2provided by HGNC Primary source HGNC:HGNC:8575 See related Ensembl:ENSG00000168092 MIM:602508; AllianceGenome:HGNC:8575 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 HEL-S-303 Summary Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in brain (RPKM 16.2), thyroid (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
PAFAH1B2P2, Official Symbol PAFAH1B2P2provided by HGNC Official Full Name PAFAH1B2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54906 See related Ensembl:ENSG00000257501 AllianceGenome:HGNC:54906 Gene type pseudo 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
PAFAH1B3, Official Symbol PAFAH1B3provided by HGNC Official Full Name platelet activating factor acetylhydrolase 1b catalytic subunit 3provided by HGNC Primary source HGNC:HGNC:8576 See related Ensembl:ENSG00000079462 MIM:603074; AllianceGenome:HGNC:8576 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 PAFAHG Summary This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 7.8), brain (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
PAFAH2, Official Symbol PAFAH2provided by HGNC Official Full Name platelet activating factor acetylhydrolase 2provided by HGNC Primary source HGNC:HGNC:8579 See related Ensembl:ENSG00000158006 MIM:602344; AllianceGenome:HGNC:8579 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 HSD-PLA2 Summary This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 8.5), colon (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
PAG1, Official Symbol PAG1provided by HGNC Official Full Name phosphoprotein membrane anchor with glycosphingolipid microdomains 1provided by HGNC Primary source HGNC:HGNC:30043 See related Ensembl:ENSG00000076641 MIM:605767; AllianceGenome:HGNC:30043 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 CBP; PAG Summary The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 8.7), placenta (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
PAGE1, Official Symbol PAGE1provided by HGNC Official Full Name PAGE family member 1provided by HGNC Primary source HGNC:HGNC:4107 See related Ensembl:ENSG00000068985 MIM:300288; AllianceGenome:HGNC:4107 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 AL5; CT16.3; GAGE-9; GAGEB1; PAGE-1 Summary This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 6.3) See more Orthologs all
PAGE2, Official Symbol PAGE2provided by HGNC Official Full Name PAGE family member 2provided by HGNC Primary source HGNC:HGNC:31804 See related Ensembl:ENSG00000234068 MIM:300738; AllianceGenome:HGNC:31804 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 CT16.4; GAGEC2; GAGEE2; PAGE-2 Expression Restricted expression toward testis (RPKM 10.7) See more
PAGE2B, Official Symbol PAGE2Bprovided by HGNC Official Full Name PAGE family member 2Bprovided by HGNC Primary source HGNC:HGNC:31805 See related Ensembl:ENSG00000238269 AllianceGenome:HGNC:31805 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 CT16.5; GAGEE3; PAGE-2B Expression Restricted expression toward testis (RPKM 8.7) See more Orthologs all
PAGE3, Official Symbol PAGE3provided by HGNC Official Full Name PAGE family member 3provided by HGNC Primary source HGNC:HGNC:4110 See related Ensembl:ENSG00000204279 MIM:300739; AllianceGenome:HGNC:4110 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 CT16.6; GAGED1; PAGE-3 Summary This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2015] Expression Restricted expression toward testis (RPKM 1.3) See more Orthologs all
PAGE4, Official Symbol PAGE4provided by HGNC Official Full Name PAGE family member 4provided by HGNC Primary source HGNC:HGNC:4108 See related Ensembl:ENSG00000101951 MIM:300287; AllianceGenome:HGNC:4108 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 JM27; JM-27; CT16.7; GAGE-9; GAGEC1; PAGE-1; PAGE-4 Summary This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Restricted expression toward placenta (RPKM 272.2) See more Orthologs all
PAGE5, Official Symbol PAGE5provided by HGNC Official Full Name PAGE family member 5provided by HGNC Primary source HGNC:HGNC:29992 See related Ensembl:ENSG00000158639 MIM:301009; AllianceGenome:HGNC:29992 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 CT16; CT16.1; CT16.2; GAGEE1; PAGE-5 Summary This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. The encoded protein may protect cells from programmed cell death. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jan 2015] Expression Restricted expression toward testis (RPKM 6.1) See more Orthologs all
PAGR1, Official Symbol PAGR1provided by HGNC Official Full Name PAXIP1 associated glutamate rich protein 1provided by HGNC Primary source HGNC:HGNC:28707 See related Ensembl:ENSG00000280789 MIM:612033; AllianceGenome:HGNC:28707 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 GAS; PA1; C16orf53 Summary Enables estrogen receptor binding activity. Involved in positive regulation of cell cycle G1/S phase transition; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 11.5), prostate (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
PAH, Official Symbol PAHprovided by HGNC Official Full Name phenylalanine hydroxylaseprovided by HGNC Primary source HGNC:HGNC:8582 See related Ensembl:ENSG00000171759 MIM:612349; AllianceGenome:HGNC:8582 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 PH; PKU; PKU1 Summary This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017] Expression Biased expression in liver (RPKM 237.1), kidney (RPKM 166.4) and 1 other tissue See more Orthologs mouse all
PAICS, Official Symbol PAICSprovided by HGNC Official Full Name phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthaseprovided by HGNC Primary source HGNC:HGNC:8587 See related Ensembl:ENSG00000128050 MIM:172439; AllianceGenome:HGNC:8587 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 ADE2; AIRC; PAIS; ADE2H1; PAICSD Summary This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 25.9), appendix (RPKM 25.5) and 25 other tissues See more Orthologs all
PAICSP2, Official Symbol PAICSP2provided by HGNC Official Full Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2provided by HGNC Primary source HGNC:HGNC:8589 See related Ensembl:ENSG00000228595 AllianceGenome:HGNC:8589 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAICSP4, Official Symbol PAICSP4provided by HGNC Official Full Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4provided by HGNC Primary source HGNC:HGNC:38097 See related AllianceGenome:HGNC:38097 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAICSP5, Official Symbol PAICSP5provided by HGNC Official Full Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5provided by HGNC Primary source HGNC:HGNC:38098 See related AllianceGenome:HGNC:38098 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAICSP6, Official Symbol PAICSP6provided by HGNC Official Full Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6provided by HGNC Primary source HGNC:HGNC:38099 See related AllianceGenome:HGNC:38099 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAICSP7, Official Symbol PAICSP7provided by HGNC Official Full Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7provided by HGNC Primary source HGNC:HGNC:38100 See related Ensembl:ENSG00000232293 AllianceGenome:HGNC:38100 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PAIP1, Official Symbol PAIP1provided by HGNC Official Full Name poly(A) binding protein interacting protein 1provided by HGNC Primary source HGNC:HGNC:16945 See related Ensembl:ENSG00000172239 MIM:605184; AllianceGenome:HGNC:16945 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 interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 24.5), thyroid (RPKM 20.8) and 25 other tissues See more Orthologs mouse all
PAIP2, Official Symbol PAIP2provided by HGNC Official Full Name poly(A) binding protein interacting protein 2provided by HGNC Primary source HGNC:HGNC:17970 See related Ensembl:ENSG00000120727 MIM:605604; AllianceGenome:HGNC:17970 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 PAIP-2; PAIP2A Summary Enables translation repressor activity. Involved in negative regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 45.2), adrenal (RPKM 41.5) and 25 other tissues See more Orthologs mouse all
PAIP2B, Official Symbol PAIP2Bprovided by HGNC Official Full Name poly(A) binding protein interacting protein 2Bprovided by HGNC Primary source HGNC:HGNC:29200 See related Ensembl:ENSG00000124374 MIM:611018; AllianceGenome:HGNC:29200 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 Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008] Expression Broad expression in brain (RPKM 9.7), thyroid (RPKM 9.0) and 23 other tissues See more Orthologs mouse all
PAK1, Official Symbol PAK1provided by HGNC Official Full Name p21 (RAC1) activated kinase 1provided by HGNC Primary source HGNC:HGNC:8590 See related Ensembl:ENSG00000149269 MIM:602590; AllianceGenome:HGNC:8590 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 IDDMSSD; p65-PAK; PAKalpha; alpha-PAK Summary This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020] Expression Ubiquitous expression in brain (RPKM 55.5), thyroid (RPKM 19.6) and 23 other tissues See more Orthologs mouse all
PAK1IP1, Official Symbol PAK1IP1provided by HGNC Official Full Name PAK1 interacting protein 1provided by HGNC Primary source HGNC:HGNC:20882 See related Ensembl:ENSG00000111845 MIM:607811; AllianceGenome:HGNC:20882 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 PIP1; MAK11; WDR84; hPIP1; bA421M1.5 Summary Involved in regulation of signal transduction by p53 class mediator and ribosomal large subunit biogenesis. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 23.6), appendix (RPKM 6.7) and 24 other tissues See more Orthologs mouse all
PAK2, Official Symbol PAK2provided by HGNC Official Full Name p21 (RAC1) activated kinase 2provided by HGNC Primary source HGNC:HGNC:8591 See related Ensembl:ENSG00000180370 MIM:605022; AllianceGenome:HGNC:8591 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 KNO2; PAK65; PAKgamma Summary The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 22.2), appendix (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
PAK3, Official Symbol PAK3provided by HGNC Official Full Name p21 (RAC1) activated kinase 3provided by HGNC Primary source HGNC:HGNC:8592 See related Ensembl:ENSG00000077264 MIM:300142; AllianceGenome:HGNC:8592 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 ARA; bPAK; MRX30; MRX47; OPHN3; PAK-3; XLID30; PAK3beta; beta-PAK Summary The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 8.0), pancreas (RPKM 3.0) and 11 other tissues See more Orthologs mouse all
PAK4, Official Symbol PAK4provided by HGNC Official Full Name p21 (RAC1) activated kinase 4provided by HGNC Primary source HGNC:HGNC:16059 See related Ensembl:ENSG00000130669 MIM:605451; AllianceGenome:HGNC:16059 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 PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 14.9), kidney (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
PAK5, Official Symbol PAK5provided by HGNC Official Full Name p21 (RAC1) activated kinase 5provided by HGNC Primary source HGNC:HGNC:15916 See related Ensembl:ENSG00000101349 MIM:608038; AllianceGenome:HGNC:15916 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 PAK7 Summary The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 4.1), adrenal (RPKM 1.0) and 1 other tissue See more Orthologs mouse all
PAK6, Official Symbol PAK6provided by HGNC Official Full Name p21 (RAC1) activated kinase 6provided by HGNC Primary source HGNC:HGNC:16061 See related Ensembl:ENSG00000137843 MIM:608110; AllianceGenome:HGNC:16061 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 PAK5 Summary This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Broad expression in testis (RPKM 8.7), brain (RPKM 8.5) and 14 other tissues See more Orthologs mouse all
PALB2, Official Symbol PALB2provided by HGNC Official Full Name partner and localizer of BRCA2provided by HGNC Primary source HGNC:HGNC:26144 See related Ensembl:ENSG00000083093 MIM:610355; AllianceGenome:HGNC:26144 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 FANCN; PNCA3; BROVCA5 Summary This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 4.0), esophagus (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
PALD1, Official Symbol PALD1provided by HGNC Official Full Name phosphatase domain containing paladin 1provided by HGNC Primary source HGNC:HGNC:23530 See related Ensembl:ENSG00000107719 MIM:614656; AllianceGenome:HGNC:23530 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 PALD; KIAA1274 Summary Predicted to enable protein tyrosine phosphatase activity. Predicted to be involved in peptidyl-tyrosine dephosphorylation. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 5.3), spleen (RPKM 4.7) and 24 other tissues See more Orthologs mouse all
PALLD, Official Symbol PALLDprovided by HGNC Official Full Name palladin, cytoskeletal associated proteinprovided by HGNC Primary source HGNC:HGNC:17068 See related Ensembl:ENSG00000129116 MIM:608092; AllianceGenome:HGNC:17068 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 MYN; PNCA1; CGI151; SIH002; CGI-151 Summary This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in endometrium (RPKM 88.4), prostate (RPKM 49.6) and 23 other tissues See more Orthologs mouse all
PALM, Official Symbol PALMprovided by HGNC Official Full Name paralemminprovided by HGNC Primary source HGNC:HGNC:8594 See related Ensembl:ENSG00000099864 MIM:608134; AllianceGenome:HGNC:8594 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 PALM1 Summary This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 28.7), brain (RPKM 22.8) and 18 other tissues See more Orthologs mouse all
PALM2AKAP2, Official Symbol PALM2AKAP2provided by HGNC Official Full Name PALM2 and AKAP2 fusionprovided by HGNC Primary source HGNC:HGNC:33529 See related Ensembl:ENSG00000157654 MIM:604582; AllianceGenome:HGNC:33529 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 AKAP2; MISP2; PALM2; PRKA2; AKAP-2; AKAPKL; AKAP-KL; PALM2-AKAP2 Summary This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019] Expression Broad expression in fat (RPKM 49.5), lung (RPKM 48.4) and 24 other tissues See more Orthologs mouse all
PALM3, Official Symbol PALM3provided by HGNC Official Full Name paralemmin 3provided by HGNC Primary source HGNC:HGNC:33274 See related Ensembl:ENSG00000187867 AllianceGenome:HGNC:33274 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 ATP binding activity. Involved in Toll signaling pathway; negative regulation of cytokine-mediated signaling pathway; and response to lipopolysaccharide. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 13.7), liver (RPKM 6.5) and 10 other tissues See more Orthologs mouse all
PALMD, Official Symbol PALMDprovided by HGNC Official Full Name palmdelphinprovided by HGNC Primary source HGNC:HGNC:15846 See related Ensembl:ENSG00000099260 MIM:610182; AllianceGenome:HGNC:15846 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 PALML; C1orf11 Summary Predicted to be involved in regulation of cell shape. Predicted to be located in dendrite. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 87.9), heart (RPKM 29.7) and 13 other tissues See more Orthologs mouse all
PALS1, Official Symbol PALS1provided by HGNC Official Full Name protein associated with LIN7 1, MAGUK p55 family memberprovided by HGNC Primary source HGNC:HGNC:18669 See related Ensembl:ENSG00000072415 MIM:606958; AllianceGenome:HGNC:18669 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 MPP5 Summary This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in kidney (RPKM 15.8), thyroid (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
PAM, Official Symbol PAMprovided by HGNC Official Full Name peptidylglycine alpha-amidating monooxygenaseprovided by HGNC Primary source HGNC:HGNC:8596 See related Ensembl:ENSG00000145730 MIM:170270; AllianceGenome:HGNC:8596 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 PAL; PHM; PAM-1 Summary This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Broad expression in heart (RPKM 269.6), adrenal (RPKM 54.3) and 15 other tissues See more Orthologs mouse all
PAM16, Official Symbol PAM16provided by HGNC Official Full Name presequence translocase associated motor 16provided by HGNC Primary source HGNC:HGNC:29679 See related Ensembl:ENSG00000217930 MIM:614336; AllianceGenome:HGNC:29679 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 TIM16; MAGMAS; SMDMDM; TIMM16; CGI-136 Summary This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017] Expression Ubiquitous expression in testis (RPKM 9.8), adrenal (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
PAMR1, Official Symbol PAMR1provided by HGNC Official Full Name peptidase domain containing associated with muscle regeneration 1provided by HGNC Primary source HGNC:HGNC:24554 See related Ensembl:ENSG00000149090 AllianceGenome:HGNC:24554 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 RAMP; FP938; DKFZP586H2123 Summary Predicted to enable calcium ion binding activity and serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in endometrium (RPKM 38.4), placenta (RPKM 23.8) and 13 other tissues See more Orthologs mouse all
PAN2, Official Symbol PAN2provided by HGNC Official Full Name poly(A) specific ribonuclease subunit PAN2provided by HGNC Primary source HGNC:HGNC:20074 See related Ensembl:ENSG00000135473 MIM:617447; AllianceGenome:HGNC:20074 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 USP52 Summary This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 19.6), thyroid (RPKM 18.6) and 25 other tissues See more Orthologs mouse all
PAN3, Official Symbol PAN3provided by HGNC Official Full Name poly(A) specific ribonuclease subunit PAN3provided by HGNC Primary source HGNC:HGNC:29991 See related Ensembl:ENSG00000152520 MIM:617448; AllianceGenome:HGNC:29991 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 Contributes to poly(A)-specific ribonuclease activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within deadenylation-dependent decapping of nuclear-transcribed mRNA; positive regulation of cytoplasmic mRNA processing body assembly; and protein targeting. Part of PAN complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.7), spleen (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
PANCR, Official Symbol PANCRprovided by HGNC Official Full Name PITX2 adjacent non-coding RNAprovided by HGNC Primary source HGNC:HGNC:52282 See related Ensembl:ENSG00000250103 MIM:617286; AllianceGenome:HGNC:52282 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PANDAR, Official Symbol PANDARprovided by HGNC Official Full Name promoter of CDKN1A antisense DNA damage activated RNAprovided by HGNC Primary source HGNC:HGNC:44048 See related Ensembl:ENSG00000281450 MIM:617179; AllianceGenome:HGNC:44048 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PANDA Summary This gene produces a non-coding RNA that is thought to regulate the response to DNA damage. This gene is induced by tumor protein p53 and interacts with and modulates the activity of a transcription factor that induce pro-apoptotic genes. Deregulation of this gene is associated with cancer progression. [provided by RefSeq, Dec 2017]
PANK1, Official Symbol PANK1provided by HGNC Official Full Name pantothenate kinase 1provided by HGNC Primary source HGNC:HGNC:8598 See related Ensembl:ENSG00000152782 MIM:606160; AllianceGenome:HGNC:8598 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 PANK Summary This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] Expression Broad expression in liver (RPKM 8.6), kidney (RPKM 7.3) and 16 other tissues See more Orthologs mouse all
PANK2, Official Symbol PANK2provided by HGNC Official Full Name pantothenate kinase 2provided by HGNC Primary source HGNC:HGNC:15894 See related Ensembl:ENSG00000125779 MIM:606157; AllianceGenome:HGNC:15894 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 HSS; HARP; PKAN; NBIA1; C20orf48 Summary This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues See more Orthologs mouse all