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CYLD cylindromatosis (turban tumor syndrome) [ Homo sapiens (human) ]

Gene ID: 1540, updated on 30-Jun-2015
Official Symbol
CYLDprovided by HGNC
Official Full Name
cylindromatosis (turban tumor syndrome)provided by HGNC
Primary source
HGNC:HGNC:2584
See related
Ensembl:ENSG00000083799; HPRD:05427; MIM:605018; Vega:OTTHUMG00000173404
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
EAC; MFT; SBS; TEM; BRSS; CDMT; MFT1; CYLD1; CYLDI; USPL2
Summary
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]
Orthologs
See CYLD in Epigenomics, MapViewer
Location:
16q12.1
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (50742050..50801936)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (50775961..50835847)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927272 Neighboring gene sorting nexin 20 Neighboring gene nucleotide-binding oligomerization domain containing 2 Neighboring gene uncharacterized LOC102724907 Neighboring gene microRNA 3181 Neighboring gene uncharacterized LOC105371251 Neighboring gene uncharacterized LOC105371252 Neighboring gene uncharacterized LOC101927313 Neighboring gene RNA, 5S ribosomal pseudogene 426

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cylindromatosis, familial
MedGen: C1851526 OMIM: 132700 GeneReviews: Not available
Compare labs
Familial multiple trichoepitheliomata
MedGen: C1275122 OMIM: 601606 GeneReviews: Not available
Compare labs
Spiegler-Brooke syndrome
MedGen: C1857941 OMIM: 605041 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of CYLD by siRNA enhances HIV-1 infection in a single-cycle assay in HEK 293T cells, and the CYLD catalytic mutant C698A fails to reduce HIV-1 infection in 293T cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag HIV-1 transcription increases upon CYLD knockdown in CD4+ T lymphocytes, leading to upregulation of HIV-1 Gag/p24 levels in cells PubMed

Go to the HIV-1, Human Interaction Database

  • Canonical NF-kappaB pathway, organism-specific biosystem (from Pathway Interaction Database)
    Canonical NF-kappaB pathway, organism-specific biosystem
    Canonical NF-kappaB pathway
  • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
    Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
    NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
  • Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystem (from REACTOME)
    Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystemAs with other cytokine systems, production of type I IFN is a transient process, and can be hazardous to the host if unregulated, resulting in chronic cellular toxicity or inflammatory and autoimmune...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • Osteoclast differentiation, organism-specific biosystem (from KEGG)
    Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Osteoclast differentiation, conserved biosystem (from KEGG)
    Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • RIG-I-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    RIG-I-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
  • RIG-I-like receptor signaling pathway, conserved biosystem (from KEGG)
    RIG-I-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • TNF receptor signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    TNF receptor signaling pathway, organism-specific biosystem
    TNF receptor signaling pathway
  • TNF signaling, organism-specific biosystem (from REACTOME)
    TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...
  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
  • TNFR1-mediated proapoptotic signaling, organism-specific biosystem (from REACTOME)
    TNFR1-mediated proapoptotic signaling, organism-specific biosystemActivation of tumor necrosis factor receptor 1 (TNFR1) can trigger multiple signal transduction pathways to induce cell survival or cell death (Ward C et al. 1999; Micheau O and Tschopp J 2003; Wider...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • HSPC057, FLJ20180, FLJ31664, FLJ78684, KIAA0849

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Lys63-specific deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
proline-rich region binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
necroptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of NF-kappaB import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of type I interferon production TAS
Traceable Author Statement
more info
 
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS
Traceable Author Statement
more info
 
nucleotide-binding oligomerization domain containing signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
ripoptosome assembly involved in necroptotic process IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary tip ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
spindle IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ubiquitin carboxyl-terminal hydrolase CYLD
Names
deubiquitinating enzyme CYLD
probable ubiquitin carboxyl-terminal hydrolase CYLD
ubiquitin specific peptidase like 2
ubiquitin thioesterase CYLD
ubiquitin thiolesterase CYLD
ubiquitin-specific-processing protease CYLD
NP_001035814.1
NP_001035877.1
NP_056062.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012061.1 RefSeqGene

    Range
    5001..64886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_491

mRNA and Protein(s)

  1. NM_001042355.1NP_001035814.1  ubiquitin carboxyl-terminal hydrolase CYLD isoform 2

    See identical proteins and their annotated locations for NP_001035814.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks one exon in the 5' UTR and a second in-frame exon in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AJ250014, AK056226, AL050166, BI458962, BX642061, DA157717, DA785459, DA940312
    Consensus CDS
    CCDS42164.1
    UniProtKB/TrEMBL
    A0A024R6T1
    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590945
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  2. NM_001042412.1NP_001035877.1  ubiquitin carboxyl-terminal hydrolase CYLD isoform 2

    See identical proteins and their annotated locations for NP_001035877.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' terminal exon, and lacks one exon in the 5' UTR and another in-frame exon in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AB020656, AJ250014, AL050166, BC012342, DA157717, DA940312, DB119480
    Consensus CDS
    CCDS42164.1
    UniProtKB/TrEMBL
    A0A024R6T1
    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590945
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  3. NM_015247.2NP_056062.1  ubiquitin carboxyl-terminal hydrolase CYLD isoform 1

    See identical proteins and their annotated locations for NP_056062.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ250014, AL050166, BX642061, DA157717, DA785459, DA940312
    Consensus CDS
    CCDS45482.1
    UniProtKB/Swiss-Prot
    Q9NQC7
    Related
    ENSP00000392025, OTTHUMP00000250362, ENST00000427738, OTTHUMT00000422998
    Conserved Domains (2) summary
    smart01052
    Location:472540
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:593948
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    50742050..50801936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255812.2XP_005255869.1  

    See identical proteins and their annotated locations for XP_005255869.1

    UniProtKB/TrEMBL
    A0A024R6T1
    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590945
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  2. XM_006721149.1XP_006721212.1  

    See identical proteins and their annotated locations for XP_006721212.1

    UniProtKB/TrEMBL
    A0A024R6T1
    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590945
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  3. XM_011522910.1XP_011521212.1  

    See identical proteins and their annotated locations for XP_011521212.1

    Related
    ENSP00000462134, OTTHUMP00000258946, ENST00000566206, OTTHUMT00000422994
    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590893
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  4. XM_011522909.1XP_011521211.1  

    See identical proteins and their annotated locations for XP_011521211.1

    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590893
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  5. XM_011522908.1XP_011521210.1  

    Conserved Domains (2) summary
    smart01052
    Location:459527
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:580935
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  6. XM_011522911.1XP_011521213.1  

    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cl02553
    Location:590619
    Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
  7. XM_011522906.1XP_011521208.1  

    See identical proteins and their annotated locations for XP_011521208.1

    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590945
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
  8. XM_011522907.1XP_011521209.1  

    See identical proteins and their annotated locations for XP_011521209.1

    Conserved Domains (2) summary
    smart01052
    Location:469537
    CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
    cd02670
    Location:590945
    Peptidase_C19N; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

RNA

  1. XR_933218.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    52183487..52243322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)