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Aliases for CYLD Gene

Aliases for CYLD Gene

  • Cylindromatosis (Turban Tumor Syndrome) 2 3
  • Ubiquitin-Specific-Processing Protease CYLD 3 4
  • Ubiquitin Specific Peptidase Like 2 2 3
  • Deubiquitinating Enzyme CYLD 3 4
  • Ubiquitin Thioesterase CYLD 3 4
  • KIAA0849 4 6
  • CYLD1 3 4
  • BRSS 3 6
  • CDMT 3 6
  • MFT1 3 6
  • EAC 3 6
  • Probable Ubiquitin Carboxyl-Terminal Hydrolase CYLD 3
  • Ubiquitin Carboxyl-Terminal Hydrolase CYLD 3
  • Ubiquitin Thiolesterase CYLD 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 63
  • CYLDI 3
  • USPL2 3
  • MFT 3
  • TEM 3
  • SBS 3

External Ids for CYLD Gene

Previous HGNC Symbols for CYLD Gene

  • CYLD1

Previous GeneCards Identifiers for CYLD Gene

  • GC16P041189
  • GC16P050823
  • GC16P050505
  • GC16P050554
  • GC16P049333
  • GC16P036663
  • GC16P050775

Summaries for CYLD Gene

Entrez Gene Summary for CYLD Gene

  • This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYLD Gene

CYLD (Cylindromatosis (Turban Tumor Syndrome)) is a Protein Coding gene. Diseases associated with CYLD include cylindromatosis, familial and brooke-spiegler syndrome. Among its related pathways are Protein Stability and Wnt / Hedgehog / Notch. GO annotations related to this gene include protein kinase binding and ubiquitin-specific protease activity.

UniProtKB/Swiss-Prot for CYLD Gene

  • Protease that specifically cleaves Lys-63-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:12917689, PubMed:12917691). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B. Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells. Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity).

Gene Wiki entry for CYLD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYLD Gene

Genomics for CYLD Gene

Regulatory Elements for CYLD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYLD Gene

Start:
50,742,050 bp from pter
End:
50,801,936 bp from pter
Size:
59,887 bases
Orientation:
Plus strand

Genomic View for CYLD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYLD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYLD Gene

Proteins for CYLD Gene

  • Protein details for CYLD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQC7-CYLD_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase CYLD
    Protein Accession:
    Q9NQC7
    Secondary Accessions:
    • O94934
    • Q7L3N6
    • Q96EH0
    • Q9NZX9

    Protein attributes for CYLD Gene

    Size:
    956 amino acids
    Molecular mass:
    107316 Da
    Quaternary structure:
    • Interacts (via CAP-Gly domain) with IKBKG/NEMO (via proline-rich C-terminal region). Interacts with TRAF2 and TRIP. Interacts with PLK1, DVL1, DVL3, MAVS, TBK1, IKKE and DDX58. Interacts (via CAP-Gly domain) with microtubules. Interacts with HDAC6 and BCL3. Interacts with SQSTM1 and MAP3K7. Identified in a complex with TRAF6 and SQSTM1 (By similarity). Interacts with CEP350 (PubMed:25134987).
    SequenceCaution:
    • Sequence=AAF29029.1; Type=Frameshift; Positions=776, 808, 932; Evidence={ECO:0000305}; Sequence=BAA74872.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYLD Gene

    Alternative splice isoforms for CYLD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYLD Gene

Proteomics data for CYLD Gene at MOPED

Post-translational modifications for CYLD Gene

  • Phosphorylated on several serine residues by IKKA and/or IKKB in response to immune stimuli. Phosphorylation requires IKBKG. Phosphorylation abolishes TRAF2 deubiquitination, interferes with the activation of Jun kinases, and strongly reduces CD40-dependent gene activation by NF-kappa-B.
  • Ubiquitination at Lys10, Lys114, Lys121, Lys132, and Lys708
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYLD (CYLD)

Domains for CYLD Gene

Protein Domains for CYLD Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQC7

UniProtKB/Swiss-Prot:

CYLD_HUMAN :
  • Q9NQC7
Domain:
  • Contains 3 CAP-Gly domains.
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with CYLD: view

No data available for Gene Families for CYLD Gene

Function for CYLD Gene

Molecular function for CYLD Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation at serine residues.
UniProtKB/Swiss-Prot Function:
Protease that specifically cleaves Lys-63-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation (PubMed:12917689, PubMed:12917691). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B. Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells. Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity).

Enzyme Numbers (IUBMB) for CYLD Gene

Gene Ontology (GO) - Molecular Function for CYLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 NOT structural constituent of ribosome IBA --
GO:0004843 ubiquitin-specific protease activity IDA 18313383
GO:0005515 protein binding IPI 18636086
GO:0008270 zinc ion binding IDA 18313383
GO:0019901 protein kinase binding IPI 17495026
genes like me logo Genes that share ontologies with CYLD: view
genes like me logo Genes that share phenotypes with CYLD: view

Animal Models for CYLD Gene

MGI Knock Outs for CYLD:

Animal Model Products

miRNA for CYLD Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYLD

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CYLD Gene

Localization for CYLD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYLD Gene

Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, cilium basal body. Note=Detected at the microtubule cytoskeleton during interphase. Detected at the midbody during telophase. During metaphase, it remains localized to the centrosome but is also present along the spindle (PubMed:25134987). {ECO:0000250 UniProtKB:Q80TQ2, ECO:0000269 PubMed:25134987}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYLD Gene COMPARTMENTS Subcellular localization image for CYLD gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005819 spindle IDA 25134987
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CYLD: view

Pathways for CYLD Gene

genes like me logo Genes that share pathways with CYLD: view

PCR Array Products

Gene Ontology (GO) - Biological Process for CYLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002181 NOT cytoplasmic translation IBA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IMP 17495026
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with CYLD: view

Compounds for CYLD Gene

(1) HMDB Compounds for CYLD Gene

Compound Synonyms Cas Number PubMed IDs
Water
  • Dihydrogen oxide
7732-18-5

(3) Novoseek inferred chemical compound relationships for CYLD Gene

Compound -log(P) Hits PubMed IDs
cdmt 88.5 20
cdcl2 42.7 7
aspirin 25.2 1
genes like me logo Genes that share compounds with CYLD: view

Transcripts for CYLD Gene

Unigene Clusters for CYLD Gene

Cylindromatosis (turban tumor syndrome):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYLD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYLD Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - -
SP2: - - -
SP3: -
SP4:
SP5: - -
SP6:
SP7: - -
SP8:

ExUns: 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CYLD Gene

GeneLoc Exon Structure for
CYLD
ECgene alternative splicing isoforms for
CYLD

Expression for CYLD Gene

mRNA expression in normal human tissues for CYLD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CYLD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (30.0) and Lymph node (9.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYLD Gene

SOURCE GeneReport for Unigene cluster for CYLD Gene Hs.578973

mRNA Expression by UniProt/SwissProt for CYLD Gene

Q9NQC7-CYLD_HUMAN
Tissue specificity: Detected in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary and lung. Isoform 2 is found in all tissues except kidney.
genes like me logo Genes that share expressions with CYLD: view

Expression partners for CYLD Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CYLD Gene

Orthologs for CYLD Gene

This gene was present in the common ancestor of animals.

Orthologs for CYLD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYLD 35
  • 92.58 (n)
  • 96.85 (a)
CYLD 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYLD 35
  • 92.82 (n)
  • 97.18 (a)
CYLD 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyld 35
  • 89.81 (n)
  • 94.87 (a)
Cyld 16
Cyld 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYLD 35
  • 98.71 (n)
  • 98.95 (a)
CYLD 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyld 35
  • 88.77 (n)
  • 94.23 (a)
oppossum
(Monodelphis domestica)
Mammalia CYLD 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYLD 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYLD 35
  • 81.57 (n)
  • 87.93 (a)
CYLD 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYLD 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyld 35
  • 74.72 (n)
  • 81.83 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11446 35
zebrafish
(Danio rerio)
Actinopterygii cylda 35
  • 66.77 (n)
  • 70.06 (a)
Dr.18343 35
cylda 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5603 37
  • 45 (a)
CYLD 35
  • 54.16 (n)
  • 48.28 (a)
CYLD 36
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008412 35
  • 53.62 (n)
  • 50.21 (a)
worm
(Caenorhabditis elegans)
Secernentea F40F12.5a 37
  • 35 (a)
cyld-1 36
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for CYLD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYLD Gene

ENSEMBL:
Gene Tree for CYLD (if available)
TreeFam:
Gene Tree for CYLD (if available)

Paralogs for CYLD Gene

genes like me logo Genes that share paralogs with CYLD: view

No data available for Paralogs for CYLD Gene

Variants for CYLD Gene

Sequence variations from dbSNP and Humsavar for CYLD Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1420871 -- 50,781,521(-) TGAGC(A/G)TTGGC intron-variant
rs1420872 -- 50,773,868(-) AAGAA(A/G)AAGAC intron-variant
rs1420873 -- 50,769,845(-) ATCGA(C/G)AGCAG intron-variant
rs1477176 -- 50,764,544(-) TAAGA(C/T)TGGTG intron-variant
rs1548989 -- 50,773,096(-) CATCC(A/G)CAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYLD Gene

Variant ID Type Subtype PubMed ID
esv2714463 CNV Deletion 23290073
esv2714464 CNV Deletion 23290073

Relevant External Links for CYLD Gene

HapMap Linkage Disequilibrium report
CYLD
Human Gene Mutation Database (HGMD)
CYLD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYLD Gene

Disorders for CYLD Gene

(3) OMIM Diseases for CYLD Gene (605018)

UniProtKB/Swiss-Prot

CYLD_HUMAN
  • Cylindromatosis, familial (FCYL) [MIM:132700]: A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles. {ECO:0000269 PubMed:12190880, ECO:0000269 PubMed:16922728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple familial trichoepithelioma 1 (MFT1) [MIM:601606]: Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma. {ECO:0000269 PubMed:14632188, ECO:0000269 PubMed:16307661, ECO:0000269 PubMed:16922728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brooke-Spiegler syndrome (BRSS) [MIM:605041]: An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life. {ECO:0000269 PubMed:12190880, ECO:0000269 PubMed:12950348, ECO:0000269 PubMed:14632188, ECO:0000269 PubMed:15854031}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CYLD Gene

(6) Novoseek inferred disease relationships for CYLD Gene

Disease -log(P) Hits PubMed IDs
cylindromatosis, familial 98.6 16
carcinoma adenoid cystic 88.3 7
somatic mutations 47 4
tumors 33.1 24
necrosis 4.14 4

Relevant External Links for CYLD

Genetic Association Database (GAD)
CYLD
Human Genome Epidemiology (HuGE) Navigator
CYLD
genes like me logo Genes that share disorders with CYLD: view

No data available for Genatlas for CYLD Gene

Publications for CYLD Gene

  1. Identification of the familial cylindromatosis tumor suppressor gene. (PMID: 10835629) Bignell G.R. … Stratton M.R. (Nat. Genet. 2000) 3 4 23
  2. CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. (PMID: 12917689) Trompouki E. … Mosialos G. (Nature 2003) 3 4 23
  3. Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. (PMID: 12917690) Brummelkamp T.R. … Bernards R. (Nature 2003) 3 4 23
  4. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (PMID: 14632188) Hu G. … Celebi J.T. (J. Invest. Dermatol. 2003) 3 4 23
  5. Regulation of the deubiquitinating enzyme CYLD by IkappaB kinase gamma-dependent phosphorylation. (PMID: 15870263) Reiley W. … Sun S.C. (Mol. Cell. Biol. 2005) 3 4 23

Products for CYLD Gene

  • Addgene plasmids for CYLD

Sources for CYLD Gene

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