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Cyld Gene Detail
Summary
  • Symbol
    Cyld
  • Name
    CYLD lysine 63 deubiquitinase
  • Synonyms
    2010013M14Rik, 2900009M21Rik, C130039D01Rik, CYLD1, mKIAA0849
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921506
    NCBI Gene: 74256
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:89423675-89478573 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 43.51 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1020 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921506
 protein coding gene Chr8:89423506-89478574 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033923
 protein coding gene Chr8:89790376-89847629 (+)
A/J MGP_AJ_G0033906
 protein coding gene Chr8:86264786-86319807 (+)
AKR/J MGP_AKRJ_G0033832
 protein coding gene Chr8:88803943-88858614 (+)
BALB/cJ MGP_BALBcJ_G0033899
 protein coding gene Chr8:86420763-86475904 (+)
C3H/HeJ MGP_C3HHeJ_G0033609
 protein coding gene Chr8:89403267-89459206 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034419
 protein coding gene Chr8:93187801-93242752 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031361
 protein coding gene Chr8:80229010-80284925 (+)
CAST/EiJ MGP_CASTEiJ_G0032940
 protein coding gene Chr8:88850348-88910123 (+)
CBA/J MGP_CBAJ_G0033585
 protein coding gene Chr8:96323899-96403686 (+)
DBA/2J MGP_DBA2J_G0033738
 protein coding gene Chr8:85850582-85906046 (+)
FVB/NJ MGP_FVBNJ_G0033685
 protein coding gene Chr8:84814350-84869144 (+)
LP/J MGP_LPJ_G0033830
 protein coding gene Chr8:89910667-89968044 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033728
 protein coding gene Chr8:98773197-98833459 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034438
 protein coding gene Chr8:88812085-88868410 (+)
PWK/PhJ MGP_PWKPhJ_G0032643
 protein coding gene Chr8:85124400-85180076 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032479
 protein coding gene Chr8:87621681-87678218 (+)
WSB/EiJ MGP_WSBEiJ_G0033051
 protein coding gene Chr8:89264330-89323669 (+)



Homology
more
  • Human Ortholog
    CYLD, CYLD lysine 63 deubiquitinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYLD, CYLD lysine 63 deubiquitinase
  • Synonyms
    BRSS, CDMT, CYLD1, CYLDI, EAC, FTDALS8, MFT, MFT1, SBS, TEM, USPL2
  • Links
    NCBI Gene ID: 1540
    neXtProt AC: NX_Q9NQC7
    UniProt: Q9NQC7

  • Chr Location
    16q12.1; chr16:50742050-50801935 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CYLD associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    61 phenotypes from 8 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    1 images
    106 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Various knockout models with different exon deletions have been created. Observed phenotypes include altered T cell and B cell development, susceptibility to induced skin tumors, resistance to lethal lung infection, high colon tumor incidence, kinky tails, and neonatal death due to lung dysfunction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    97
  • GO References
    19
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    822
  • Tissues
    17
  • cDNA Data
    15
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036712 Ensembl Gene Model | MGI Sequence Detail 54899 C57BL/6J ±  kb
    transcript ENSMUST00000209532 Ensembl | MGI Sequence Detail 7990 Not Applicable  
    polypeptide ENSMUSP00000147654 Ensembl | MGI Sequence Detail 955 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000031671 ubiquitin carboxyl-terminal hydrolase CYLD
      (term hierarchy)
    • EC
      3.4.19.12
    • InterPro Domains
      IPR000938 CAP Gly-rich domain
      IPR036859 CAP Gly-rich domain superfamily
      IPR038765 Papain-like cysteine peptidase superfamily
      IPR001394 Peptidase C19, ubiquitin carboxyl-terminal hydrolase
      IPR018200 Ubiquitin specific protease, conserved site
      IPR028889 Ubiquitin specific protease domain
    • GlyGen
      Q80TQ2 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 15

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1920125, MGI:2445104
    References
    more
    • Summaries
      All 158
      Developmental Gene Expression 4
      Gene Ontology 19
      Phenotypes 106
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory