CYLD - Gene info - The Human Protein Atlas

Gene name

CYLD (HGNC Symbol)

Synonyms

CYLD1, KIAA0849, USPL2

Description

Cylindromatosis (turban tumor syndrome) (HGNC Symbol)

Entrez gene 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]

Chromosome

Cytoband

q12.1

Chromosome location (bp)

50742050 - 50801935

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000083799 (version 78.38)

Entrez gene

1540

UniProt

Q9NQC7 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CYLD-001

ENSP00000457576
ENST00000569418

A0A024R6T1
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A0A024R6T1 [Target identity:100%; Query identity:100%]
Cylindromatosis (Turban tumor syndrome), isoform CRA_a {ECO:0000313|EMBL:EAW82769.1}
A0A024R6Q9 [Target identity:66%; Query identity:100%]
Cylindromatosis (Turban tumor syndrome), isoform CRA_b {ECO:0000313|EMBL:EAW82773.1}
H3BSW9 [Target identity:31%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000456912}
H3BTB8 [Target identity:17%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000457108}
H3BPZ5 [Target identity:3%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0036459 [ubiquitinyl hydrolase activity]

953

107

CYLD-002

ENSP00000462134
ENST00000566206

J3KRR7
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J3KRR7 [Target identity:100%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000462134}
H3BSW9 [Target identity:33%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000456912}
H3BTB8 [Target identity:18%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000457108}
H3BPZ5 [Target identity:3%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0036459 [ubiquitinyl hydrolase activity]

910

101.9

CYLD-003

ENSP00000308928
ENST00000311559

Q9NQC7
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Q9NQC7 [Target identity:100%; Query identity:100%]
Ubiquitin carboxyl-terminal hydrolase CYLD
A0A024R6Q9 [Target identity:66%; Query identity:100%]
Cylindromatosis (Turban tumor syndrome), isoform CRA_b {ECO:0000313|EMBL:EAW82773.1}
H3BSW9 [Target identity:31%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000456912}
H3BTB8 [Target identity:17%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000457108}
H3BPZ5 [Target identity:3%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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Enzymes
   ENZYME proteins
   Hydrolases
   Peptidases
   Cysteine-type peptidases
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005881 [cytoplasmic microtubule]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0007049 [cell cycle]
GO:0007346 [regulation of mitotic cell cycle]
GO:0008270 [zinc ion binding]
GO:0016055 [Wnt signaling pathway]
GO:0019901 [protein kinase binding]
GO:0030496 [midbody]
GO:0031234 [extrinsic component of cytoplasmic side of plasma membrane]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032480 [negative regulation of type I interferon production]
GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway]
GO:0036459 [ubiquitinyl hydrolase activity]
GO:0042347 [negative regulation of NF-kappaB import into nucleus]
GO:0045087 [innate immune response]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070064 [proline-rich region binding]
GO:0070266 [necroptotic process]
GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway]
GO:0070507 [regulation of microtubule cytoskeleton organization]
GO:0070536 [protein K63-linked deubiquitination]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2001238 [positive regulation of extrinsic apoptotic signaling pathway]
GO:2001242 [regulation of intrinsic apoptotic signaling pathway]

956

107.3

CYLD-005

ENSP00000381574
ENST00000398568

A0A024R6T1
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GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0036459 [ubiquitinyl hydrolase activity]

953

107

CYLD-006

ENSP00000454515
ENST00000564326

A0A024R6T1
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GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0036459 [ubiquitinyl hydrolase activity]

953

107

CYLD-007

ENSP00000456912
ENST00000566679

H3BSW9
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H3BSW9 [Target identity:100%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000456912}
H3BTB8 [Target identity:54%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000457108}
H3BPZ5 [Target identity:10%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005634 [nucleus]
GO:0005813 [centrosome]

304

33.9

CYLD-009

ENSP00000456488
ENST00000568704

H3BS09
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H3BS09 [Target identity:100%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000456488}
H3BSW9 [Target identity:39%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000456912}
H3BTB8 [Target identity:21%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000457108}
H3BPZ5 [Target identity:4%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0036459 [ubiquitinyl hydrolase activity]

771

87.4

CYLD-010

ENSP00000392025
ENST00000427738

Q9NQC7
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GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005881 [cytoplasmic microtubule]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0007049 [cell cycle]
GO:0007346 [regulation of mitotic cell cycle]
GO:0008270 [zinc ion binding]
GO:0016055 [Wnt signaling pathway]
GO:0016579 [protein deubiquitination]
GO:0019901 [protein kinase binding]
GO:0030496 [midbody]
GO:0031234 [extrinsic component of cytoplasmic side of plasma membrane]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032480 [negative regulation of type I interferon production]
GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway]
GO:0036459 [ubiquitinyl hydrolase activity]
GO:0042347 [negative regulation of NF-kappaB import into nucleus]
GO:0045087 [innate immune response]
GO:0045581 [negative regulation of T cell differentiation]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070064 [proline-rich region binding]
GO:0070266 [necroptotic process]
GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway]
GO:0070507 [regulation of microtubule cytoskeleton organization]
GO:0070536 [protein K63-linked deubiquitination]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:1901026 [ripoptosome assembly involved in necroptotic process]
GO:2001238 [positive regulation of extrinsic apoptotic signaling pathway]
GO:2001242 [regulation of intrinsic apoptotic signaling pathway]

956

107.3

CYLD-011

ENSP00000457108
ENST00000569681

H3BTB8
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H3BTB8 [Target identity:100%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000457108}
H3BPZ5 [Target identity:19%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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166

18.9

CYLD-012

ENSP00000455535
ENST00000564634

H3BPZ5
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H3BPZ5 [Target identity:100%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000455535}

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CYLD-014

ENSP00000458507
ENST00000566024

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7.2

CYLD-015

ENSP00000463197
ENST00000562884

J3QKR2
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J3QKR2 [Target identity:100%; Query identity:100%]
Protein FAM134C {ECO:0000313|Ensembl:ENSP00000463197}

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104

11.9

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.