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Cdk5rap1 Gene Detail
Summary
  • Symbol
    Cdk5rap1
  • Name
    CDK5 regulatory subunit associated protein 1
  • Synonyms
    2310066P17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914221
    NCBI Gene: 66971
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:154177300-154214930 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 76.46 cM, cytoband H2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    721 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914221
 protein coding gene Chr2:154063931-154216170 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026713
 protein coding gene Chr2:159069483-159103424 (-)
A/J MGP_AJ_G0026679
 protein coding gene Chr2:152689364-152723511 (-)
AKR/J MGP_AKRJ_G0026650
 protein coding gene Chr2:157163852-157200137 (-)
BALB/cJ MGP_BALBcJ_G0026688
 protein coding gene Chr2:153027678-153063196 (-)
C3H/HeJ MGP_C3HHeJ_G0026431
 protein coding gene Chr2:157529868-157564548 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027137
 protein coding gene Chr2:163717691-163763396 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024507
 protein coding gene Chr2:146265472-146300286 (-)
CAST/EiJ MGP_CASTEiJ_G0025892
 protein coding gene Chr2:157843324-157880287 (-)
CBA/J MGP_CBAJ_G0026408
 protein coding gene Chr2:169662436-169700163 (-)
DBA/2J MGP_DBA2J_G0026545
 protein coding gene Chr2:151940465-151974371 (-)
FVB/NJ MGP_FVBNJ_G0026512
 protein coding gene Chr2:150340572-150374262 (-)
LP/J MGP_LPJ_G0026650
 protein coding gene Chr2:159195213-159229671 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026533
 protein coding gene Chr2:173725984-173758148 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027193
 protein coding gene Chr2:157040270-157076123 (-)
PWK/PhJ MGP_PWKPhJ_G0025626
 protein coding gene Chr2:151435839-151470384 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025429
 protein coding gene Chr2:155999708-156040758 (-)
WSB/EiJ MGP_WSBEiJ_G0025962
 protein coding gene Chr2:157964717-158001231 (-)



Homology
more
  • Human Ortholog
    CDK5RAP1, CDK5 regulatory subunit associated protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CDK5RAP1, CDK5 regulatory subunit associated protein 1
  • Synonyms
    C20orf34, C42, CGI-05, HSPC167
  • Links
    NCBI Gene ID: 51654
    neXtProt AC: NX_Q96SZ6
    UniProt: Q96SZ6

  • Chr Location
    20q11.21; chr20:33358839-33401569 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 1 allele in 1 genetic background
    9 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.
Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    8
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
    820
  • Tissues
    15
  • cDNA Data
    30
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027487 Ensembl Gene Model | MGI Sequence Detail 37631 C57BL/6J ±  kb
    transcript ENSMUST00000109731 Ensembl | MGI Sequence Detail 2160 Not Applicable  
    polypeptide ENSMUSP00000105353 Ensembl | MGI Sequence Detail 588 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      cDNA 30

      Microarray probesets 3
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 9
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:316970 Miwa T, et al., Cdk5 regulatory subunit-associated protein 1 knockout mice show hearing loss phenotypically similar to age-related hearing loss. Mol Brain. 2021 May 17;14(1):82
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory