psui3905/ncbi_genes_summary huggingface dataset:
L3MBTL4, Official Symbol L3MBTL4provided by HGNC Official Full Name L3MBTL histone methyl-lysine binding protein 4provided by HGNC Primary source HGNC:HGNC:26677 See related Ensembl:ENSG00000154655 MIM:617135; AllianceGenome:HGNC:26677 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 HsT1031 Summary Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.4), ovary (RPKM 1.3) and 24 other tissues See more Orthologs mouse all
L3MBTL4-AS1, Official Symbol L3MBTL4-AS1provided by HGNC Official Full Name L3MBTL4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51320 See related AllianceGenome:HGNC:51320 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
LACC1, Official Symbol LACC1provided by HGNC Official Full Name laccase domain containing 1provided by HGNC Primary source HGNC:HGNC:26789 See related Ensembl:ENSG00000179630 MIM:613409; AllianceGenome:HGNC:26789 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 FAMIN; JUVAR; C13orf31 Summary This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in testis (RPKM 5.5), small intestine (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
LACRT, Official Symbol LACRTprovided by HGNC Official Full Name lacritinprovided by HGNC Primary source HGNC:HGNC:16430 See related Ensembl:ENSG00000135413 MIM:607360; AllianceGenome:HGNC:16430 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 is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008] Expression Restricted expression toward salivary gland (RPKM 2.0) See more Orthologs all
LACTB, Official Symbol LACTBprovided by HGNC Official Full Name lactamase betaprovided by HGNC Primary source HGNC:HGNC:16468 See related Ensembl:ENSG00000103642 MIM:608440; AllianceGenome:HGNC:16468 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 G24; MRPL56 Summary This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in bone marrow (RPKM 9.0), adrenal (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
LACTB2, Official Symbol LACTB2provided by HGNC Official Full Name lactamase beta 2provided by HGNC Primary source HGNC:HGNC:18512 See related Ensembl:ENSG00000147592 MIM:618921; AllianceGenome:HGNC:18512 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 CGI-83 Summary Enables endoribonuclease activity; single-stranded RNA binding activity; and zinc ion binding activity. Involved in RNA phosphodiester bond hydrolysis, endonucleolytic. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 25.7), kidney (RPKM 23.4) and 24 other tissues See more Orthologs mouse all
LACTB2-AS1, Official Symbol LACTB2-AS1provided by HGNC Official Full Name LACTB2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27841 See related Ensembl:ENSG00000246366 AllianceGenome:HGNC:27841 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 Broad expression in testis (RPKM 2.5), kidney (RPKM 1.8) and 23 other tissues See more
LACTBL1, Official Symbol LACTBL1provided by HGNC Official Full Name lactamase beta like 1provided by HGNC Primary source HGNC:HGNC:35445 See related Ensembl:ENSG00000215906 AllianceGenome:HGNC:35445 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 Expression Low expression observed in reference dataset See more Orthologs mouse all
LAD1, Official Symbol LAD1provided by HGNC Official Full Name ladinin 1provided by HGNC Primary source HGNC:HGNC:6472 See related Ensembl:ENSG00000159166 MIM:602314; AllianceGenome:HGNC:6472 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 LadA Summary The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 94.2), skin (RPKM 74.3) and 10 other tissues See more Orthologs mouse all
LAG3, Official Symbol LAG3provided by HGNC Official Full Name lymphocyte activating 3provided by HGNC Primary source HGNC:HGNC:6476 See related Ensembl:ENSG00000089692 MIM:153337; AllianceGenome:HGNC:6476 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 CD223 Summary Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008] Expression Biased expression in spleen (RPKM 15.1), lymph node (RPKM 8.3) and 12 other tissues See more Orthologs mouse all
LAGE3, Official Symbol LAGE3provided by HGNC Official Full Name L antigen family member 3provided by HGNC Primary source HGNC:HGNC:26058 See related Ensembl:ENSG00000196976 MIM:300060; AllianceGenome:HGNC:26058 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 CVG5; ESO3; Pcc1; ITBA2; GAMOS2; DXS9879E; DXS9951E Summary This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 8.7), adrenal (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
LAGE3P1, Official Symbol LAGE3P1provided by HGNC Official Full Name L antigen family member 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49909 See related AllianceGenome:HGNC:49909 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LAIR1, Official Symbol LAIR1provided by HGNC Official Full Name leukocyte associated immunoglobulin like receptor 1provided by HGNC Primary source HGNC:HGNC:6477 See related Ensembl:ENSG00000167613 MIM:602992; AllianceGenome:HGNC:6477 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 CD305; LAIR-1 Summary The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Broad expression in bone marrow (RPKM 19.6), appendix (RPKM 16.8) and 17 other tissues See more Orthologs all
LAIR2, Official Symbol LAIR2provided by HGNC Official Full Name leukocyte associated immunoglobulin like receptor 2provided by HGNC Primary source HGNC:HGNC:6478 See related Ensembl:ENSG00000167618 MIM:602993; AllianceGenome:HGNC:6478 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 CD306 Summary The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013] Expression Biased expression in placenta (RPKM 4.7), lymph node (RPKM 0.9) and 3 other tissues See more Orthologs all
LALBA, Official Symbol LALBAprovided by HGNC Official Full Name lactalbumin alphaprovided by HGNC Primary source HGNC:HGNC:6480 See related Ensembl:ENSG00000167531 MIM:149750; AllianceGenome:HGNC:6480 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 LYZG; HAMLET Summary This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
LAMA1, Official Symbol LAMA1provided by HGNC Official Full Name laminin subunit alpha 1provided by HGNC Primary source HGNC:HGNC:6481 See related Ensembl:ENSG00000101680 MIM:150320; AllianceGenome:HGNC:6481 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 LAMA; PTBHS; S-LAM-alpha Summary This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] Expression Biased expression in testis (RPKM 6.1), thyroid (RPKM 2.2) and 8 other tissues See more Orthologs mouse all
LAMA2, Official Symbol LAMA2provided by HGNC Official Full Name laminin subunit alpha 2provided by HGNC Primary source HGNC:HGNC:6482 See related Ensembl:ENSG00000196569 MIM:156225; AllianceGenome:HGNC:6482 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 LAMM; MDC1A Summary Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 30.7), ovary (RPKM 13.2) and 11 other tissues See more Orthologs mouse all
LAMA3, Official Symbol LAMA3provided by HGNC Official Full Name laminin subunit alpha 3provided by HGNC Primary source HGNC:HGNC:6483 See related Ensembl:ENSG00000053747 MIM:600805; AllianceGenome:HGNC:6483 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 E170; LOCS; BM600; JEB2A; JEB2B; JEB2C; LAMNA Summary The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Broad expression in lung (RPKM 10.8), stomach (RPKM 10.0) and 18 other tissues See more Orthologs mouse all
LAMA4, Official Symbol LAMA4provided by HGNC Official Full Name laminin subunit alpha 4provided by HGNC Primary source HGNC:HGNC:6484 See related Ensembl:ENSG00000112769 MIM:600133; AllianceGenome:HGNC:6484 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 LAMA3; CMD1JJ; LAMA4*-1 Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011] Expression Broad expression in fat (RPKM 48.0), endometrium (RPKM 32.2) and 20 other tissues See more Orthologs mouse all
LAMA5, Official Symbol LAMA5provided by HGNC Official Full Name laminin subunit alpha 5provided by HGNC Primary source HGNC:HGNC:6485 See related Ensembl:ENSG00000130702 MIM:601033; AllianceGenome:HGNC:6485 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 BBDS2; NPHS26 Summary This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] Expression Broad expression in skin (RPKM 18.3), placenta (RPKM 17.0) and 24 other tissues See more Orthologs mouse all
LAMA5-AS1, Official Symbol LAMA5-AS1provided by HGNC Official Full Name LAMA5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40334 See related Ensembl:ENSG00000228812 AllianceGenome:HGNC:40334 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 Ubiquitous expression in placenta (RPKM 2.5), skin (RPKM 1.6) and 24 other tissues See more
LAMB1, Official Symbol LAMB1provided by HGNC Official Full Name laminin subunit beta 1provided by HGNC Primary source HGNC:HGNC:6486 See related Ensembl:ENSG00000091136 MIM:150240; AllianceGenome:HGNC:6486 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 CLM; LIS5 Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011] Expression Broad expression in placenta (RPKM 75.7), fat (RPKM 65.2) and 23 other tissues See more Orthologs mouse all
LAMB2, Official Symbol LAMB2provided by HGNC Official Full Name laminin subunit beta 2provided by HGNC Primary source HGNC:HGNC:6487 See related Ensembl:ENSG00000172037 MIM:150325; AllianceGenome:HGNC:6487 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 LAMS; NPHS5; PIERS Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in heart (RPKM 75.8), placenta (RPKM 62.9) and 24 other tissues See more Orthologs mouse all
LAMB3, Official Symbol LAMB3provided by HGNC Official Full Name laminin subunit beta 3provided by HGNC Primary source HGNC:HGNC:6490 See related Ensembl:ENSG00000196878 MIM:150310; AllianceGenome:HGNC:6490 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 AI1A; LAM5; JEB1A; JEB1B; LAMNB1; BM600-125KDA Summary The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 30.8), small intestine (RPKM 17.6) and 16 other tissues See more Orthologs mouse all
LAMB4, Official Symbol LAMB4provided by HGNC Official Full Name laminin subunit beta 4provided by HGNC Primary source HGNC:HGNC:6491 See related Ensembl:ENSG00000091128 MIM:616380; AllianceGenome:HGNC:6491 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 be an extracellular matrix structural constituent. Predicted to be involved in several processes, including basement membrane assembly; cell migration; and substrate adhesion-dependent cell spreading. Predicted to be located in basement membrane; extracellular region; and membrane. Predicted to be part of laminin complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 11.6), placenta (RPKM 1.2) and 1 other tissue See more Orthologs all
LAMC1, Official Symbol LAMC1provided by HGNC Official Full Name laminin subunit gamma 1provided by HGNC Primary source HGNC:HGNC:6492 See related Ensembl:ENSG00000135862 MIM:150290; AllianceGenome:HGNC:6492 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 LAMB2 Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] Expression Broad expression in placenta (RPKM 116.1), fat (RPKM 63.0) and 19 other tissues See more Orthologs mouse all
LAMC1-AS1, Official Symbol LAMC1-AS1provided by HGNC Official Full Name LAMC1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52645 See related Ensembl:ENSG00000224468 AllianceGenome:HGNC:52645 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 lnc-LAMC2-1:1
LAMC2, Official Symbol LAMC2provided by HGNC Official Full Name laminin subunit gamma 2provided by HGNC Primary source HGNC:HGNC:6493 See related Ensembl:ENSG00000058085 MIM:150292; AllianceGenome:HGNC:6493 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 B2T; CSF; EBR2; BM600; EBR2A; JEB3A; JEB3B; LAMB2T; LAMNB2 Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011] Expression Broad expression in lung (RPKM 14.0), thyroid (RPKM 10.4) and 16 other tissues See more Orthologs mouse all
LAMC3, Official Symbol LAMC3provided by HGNC Official Full Name laminin subunit gamma 3provided by HGNC Primary source HGNC:HGNC:6494 See related Ensembl:ENSG00000050555 MIM:604349; AllianceGenome:HGNC:6494 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 OCCM Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011] Expression Biased expression in placenta (RPKM 45.0), testis (RPKM 15.3) and 7 other tissues See more Orthologs mouse all
LAMP1, Official Symbol LAMP1provided by HGNC Official Full Name lysosomal associated membrane protein 1provided by HGNC Primary source HGNC:HGNC:6499 See related Ensembl:ENSG00000185896 MIM:153330; AllianceGenome:HGNC:6499 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 LAMPA; CD107a; LGP120 Summary The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 123.3), thyroid (RPKM 98.8) and 25 other tissues See more Orthologs mouse all
LAMP2, Official Symbol LAMP2provided by HGNC Official Full Name lysosomal associated membrane protein 2provided by HGNC Primary source HGNC:HGNC:6501 See related Ensembl:ENSG00000005893 MIM:309060; AllianceGenome:HGNC:6501 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 DND; LAMPB; CD107b; LAMP-2; LGP-96; LGP110 Summary The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 30.7), gall bladder (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
LAMP3, Official Symbol LAMP3provided by HGNC Official Full Name lysosomal associated membrane protein 3provided by HGNC Primary source HGNC:HGNC:14582 See related Ensembl:ENSG00000078081 MIM:605883; AllianceGenome:HGNC:14582 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 LAMP; CD208; DCLAMP; LAMP-3; TSC403; DC LAMP; DC-LAMP Summary Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010] Expression Biased expression in lung (RPKM 74.1), appendix (RPKM 11.0) and 3 other tissues See more Orthologs mouse all
LAMP5, Official Symbol LAMP5provided by HGNC Official Full Name lysosomal associated membrane protein family member 5provided by HGNC Primary source HGNC:HGNC:16097 See related Ensembl:ENSG00000125869 MIM:614641; AllianceGenome:HGNC:16097 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 LAMP-5; UNC-46; BADLAMP; BAD-LAMP; C20orf103 Summary Predicted to be involved in establishment of protein localization to organelle. Located in endoplasmic reticulum-Golgi intermediate compartment membrane; endosome membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 17.1), ovary (RPKM 10.7) and 6 other tissues See more Orthologs mouse all
LAMP5-AS1, Official Symbol LAMP5-AS1provided by HGNC Official Full Name LAMP5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40754 See related Ensembl:ENSG00000225988 AllianceGenome:HGNC:40754 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 brain (RPKM 1.1), ovary (RPKM 0.6) and 8 other tissues See more
LAMTOR1, Official Symbol LAMTOR1provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 1provided by HGNC Primary source HGNC:HGNC:26068 See related Ensembl:ENSG00000149357 MIM:613510; AllianceGenome:HGNC:26068 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 p18; PDRO; C11orf59; p27RF-Rho; Ragulator1 Summary Enables GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cholesterol homeostasis; positive regulation of TOR signaling; and regulation of cholesterol transport. Located in lysosome. Part of Ragulator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 58.6), adrenal (RPKM 40.5) and 25 other tissues See more Orthologs mouse all
LAMTOR2, Official Symbol LAMTOR2provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 2provided by HGNC Primary source HGNC:HGNC:29796 See related Ensembl:ENSG00000116586 MIM:610389; AllianceGenome:HGNC:29796 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 p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2 Summary The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in kidney (RPKM 22.1), liver (RPKM 22.0) and 25 other tissues See more Orthologs mouse all
LAMTOR3, Official Symbol LAMTOR3provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 3provided by HGNC Primary source HGNC:HGNC:15606 See related Ensembl:ENSG00000109270 MIM:603296; AllianceGenome:HGNC:15606 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 MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3 Summary This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 13.3), brain (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
LAMTOR3P1, Official Symbol LAMTOR3P1provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39726 See related AllianceGenome:HGNC:39726 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LAMTOR3P2, Official Symbol LAMTOR3P2provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39727 See related AllianceGenome:HGNC:39727 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
LAMTOR4, Official Symbol LAMTOR4provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 4provided by HGNC Primary source HGNC:HGNC:33772 See related Ensembl:ENSG00000188186 MIM:618834; AllianceGenome:HGNC:33772 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 C7orf59 Summary Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cellular response to amino acid stimulus; positive regulation of TOR signaling; and protein localization to lysosome. Located in lysosome. Part of Ragulator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 36.0), spleen (RPKM 29.2) and 25 other tissues See more Orthologs mouse all
LAMTOR5, Official Symbol LAMTOR5provided by HGNC Official Full Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 5provided by HGNC Primary source HGNC:HGNC:17955 See related Ensembl:ENSG00000134248 MIM:608521; AllianceGenome:HGNC:17955 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 XIP; HBXIP Summary This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 162.7), bone marrow (RPKM 53.1) and 24 other tissues See more Orthologs mouse all