CYLD (gene)

CYLD
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IXD, 1WHL, 1WHM, 2VHF
Identifiers
Aliases	CYLD, BRSS, CDMT, CYLD1, CYLDI, EAC, MFT, MFT1, SBS, TEM, USPL2, CYLD lysine 63 deubiquitinase
External IDs	OMIM: 605018 MGI: 1921506 HomoloGene: 9069 GeneCards: CYLD
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.1 Start 50,742,050 bp[1] End 50,801,935 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C3 Start 89,423,656 bp[2] End 89,478,573 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon lymph node external globus pallidus sperm middle temporal gyrus thymus bone marrow cells monocyte blood corpus callosum Top expressed in otolith organ utricle olfactory tubercle nucleus accumbens ventromedial nucleus medial geniculate nucleus medial dorsal nucleus globus pallidus blood inferior colliculus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cysteine-type peptidase activity zinc ion binding metal ion binding peptidase activity protein binding thiol-dependent deubiquitinase proline-rich region binding hydrolase activity protein kinase binding Lys63-specific deubiquitinase activity Lys48-specific deubiquitinase activity structural constituent of ribosome Cellular component cytoplasm cytosol centrosome cell projection membrane extrinsic component of cytoplasmic side of plasma membrane plasma membrane spindle microtubule organizing center midbody perinuclear region of cytoplasm cytoplasmic microtubule cytoskeleton microtubule ciliary basal body ciliary tip Biological process regulation of intrinsic apoptotic signaling pathway ubiquitin-dependent protein catabolic process regulation of microtubule cytoskeleton organization Wnt signaling pathway proteolysis protein K63-linked deubiquitination regulation of mitotic cell cycle positive regulation of extrinsic apoptotic signaling pathway cell cycle negative regulation of type I interferon production negative regulation of NF-kappaB transcription factor activity nucleotide-binding oligomerization domain containing signaling pathway negative regulation of canonical Wnt signaling pathway immune system process regulation of tumor necrosis factor-mediated signaling pathway protein deubiquitination CD4-positive or CD8-positive, alpha-beta T cell lineage commitment regulation of protein binding innate immune response regulation of B cell differentiation negative regulation of T cell differentiation positive regulation of T cell differentiation homeostasis of number of cells positive regulation of T cell receptor signaling pathway necroptosis protein K48-linked deubiquitination ripoptosome assembly involved in necroptotic process regulation of cilium assembly positive regulation of protein localization protein linear deubiquitination cytoplasmic translation negative regulation of NIK/NF-kappaB signaling negative regulation of JNK cascade negative regulation of p38MAPK cascade regulation of inflammatory response regulation of necroptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1540 74256 Ensembl ENSG00000083799 ENSMUSG00000036712 UniProt Q9NQC7 Q80TQ2 RefSeq (mRNA) NM_001042355 NM_001042412 NM_015247 NM_001128169 NM_001128170 NM_001128171 NM_001276279 NM_173369 RefSeq (protein) NP_001035814 NP_001035877 NP_056062 NP_001365672 NP_001365673 NP_001365674 NP_001365675 NP_001365676 NP_001365677 NP_001365678 NP_001365679 NP_001365680 NP_001365681 NP_001365682 NP_001365683 NP_001365684 NP_001035814.1 NP_001035877.1 NP_001121642 NP_001121643 NP_001263208 NP_775545 Location (UCSC) Chr 16: 50.74 – 50.8 Mb Chr 8: 89.42 – 89.48 Mb PubMed search [3] [4]
Wikidata
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The CYLD lysine 63 deubiquitinase gene, also termed the CYLD gene,^[5] CYLD is an evolutionary ancient gene found to be present as far back on the evolutionary scale as in sponges.^[6] In humans, this gene is located in band 12.1 on the long (or "q") arm of chromosome 16^[7] and is known to code (i.e. direct the production of) multiple proteins through the process of alternative splicing.^[8]

The CYLD gene in known to code for a cytoplasmic protein, termed CYLD lysine 63 deubiquitinase (here termed CYLD protein), which has three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains (areas or the protein controlling critical functions^[9]). CYLD protein is a deubiquitinating enzyme, i.e. a protease that removes ubiquitin from certain proteins and thereby regulates these proteins' activities. CYLD protein removes ubiquitin from proteins involved in regulating the NF-κB, Wnt, notch, TGF-β,^[10] and JNK^[11] cell signaling pathways; these pathways normally act to regulate hair formation, cell growth, cell survival, inflammatory responses, and/or tumor development.^[10][11]

The CYLD gene is classified as a tumor suppressor gene, i.e. a gene that regulates cell growth and when inactivated by a mutation leads to uncontrolled cell growth and the formation of tumors.^[12] Inactivating mutations in this gene occur in essentially all cases of the CYLD cutaneous syndrome, a hereditary disorder in which individuals develop multiple skin tumors. The CYLD cutaneous syndrome includes three somewhat different forms of the disease: the multiple familial trichoepithelioma-type, Brooke–Spiegler syndrome-type, and familial cylindromatosis-type.^[10] CYLD gene mutations are also associated with T-Cell Acute Lymphoblastic Leukemia,^[12] multiple myeloma, hepatocellular carcinoma, neuroblastoma, pancreatic cancer,^[13] uterine cancer, stomach cancer, colon cancer, lung cancer, and human papillomavirus-associated cancers.^[11]

References

Further reading

External links

• Human CYLD genome location and CYLD gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 27 March 2024, at 23:17