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

Gene ID: 1540, updated on 26-Aug-2014
Official Symbol
CYLDprovided by HGNC
Official Full Name
cylindromatosis (turban tumor syndrome)provided by HGNC
Primary source
HGNC:2584
Locus tag
HSPC057
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]
See CYLD in Epigenomics
Location:
16q12.1
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC101927313 Neighboring gene RNA, 5S ribosomal pseudogene 426 Neighboring gene uncharacterized LOC102724940

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
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
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 
NOT structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
NOT cytoplasmic translation IBA
Inferred from Biological aspect of Ancestor
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 canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
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
 
protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
regulation of microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
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
 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ubiquitin carboxyl-terminal hydrolase CYLD
Names
ubiquitin carboxyl-terminal hydrolase CYLD
ubiquitin thioesterase CYLD
deubiquitinating enzyme CYLD
ubiquitin thiolesterase CYLD
ubiquitin specific peptidase like 2
ubiquitin-specific-processing protease CYLD
probable ubiquitin carboxyl-terminal hydrolase 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 

    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 proteins identical to 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/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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 proteins identical to 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/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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 proteins identical to 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
    Blast Score: 217
    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
    Blast Score: 649
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

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

mRNA and Protein(s)

  1. XM_006721152.1XP_006721215.1  

    Conserved Domains (2) summary
    smart01052
    Location:459527
    Blast Score: 217
    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
    Blast Score: 648
    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_005255812.2XP_005255869.1  

    See proteins identical to XP_005255869.1

    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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_006721150.1XP_006721213.1  

    See proteins identical to XP_006721213.1

    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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_006721151.1XP_006721214.1  

    See proteins identical to XP_006721214.1

    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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_006721149.1XP_006721212.1  

    See proteins identical to XP_006721212.1

    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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_006721148.1XP_006721211.1  

    See proteins identical to XP_006721211.1

    UniProtKB/Swiss-Prot
    Q9NQC7
    Conserved Domains (2) summary
    smart01052
    Location:469537
    Blast Score: 217
    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
    Blast Score: 648
    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_429714.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    36663187..36723275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

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