About   Help   FAQ
Chchd1 Gene Detail
Summary
  • Symbol
    Chchd1
  • Name
    coiled-coil-helix-coiled-coil-helix domain containing 1
  • Synonyms
    1110001O19Rik, 2400010G13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913371
    NCBI Gene: 66121
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:20753095-20754493 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 11.53 cM, cytoband B
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    108 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913371
 protein coding gene Chr14:20753074-20754493 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021044
 protein coding gene Chr14:13469579-13470999 (+)
A/J MGP_AJ_G0020993
 protein coding gene Chr14:13159336-13160726 (+)
AKR/J MGP_AKRJ_G0020970
 protein coding gene Chr14:13685052-13686442 (+)
BALB/cJ MGP_BALBcJ_G0020996
 protein coding gene Chr14:13263183-13264573 (+)
C3H/HeJ MGP_C3HHeJ_G0020780
 protein coding gene Chr14:13624393-13625783 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021429
 protein coding gene Chr14:13970843-13972266 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018997
 protein coding gene Chr14:13475818-13477028 (+)
CAST/EiJ MGP_CASTEiJ_G0020304
 protein coding gene Chr14:13389231-13390486 (+)
CBA/J MGP_CBAJ_G0020746
 protein coding gene Chr14:14679954-14681342 (+)
DBA/2J MGP_DBA2J_G0020869
 protein coding gene Chr14:12983817-12985192 (+)
FVB/NJ MGP_FVBNJ_G0020852
 protein coding gene Chr14:12876886-12878420 (+)
LP/J MGP_LPJ_G0020945
 protein coding gene Chr14:13697579-13698987 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020878
 protein coding gene Chr14:14457596-14459711 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021462
 protein coding gene Chr14:13476842-13478240 (+)
PWK/PhJ MGP_PWKPhJ_G0020053
 protein coding gene Chr14:12553377-12554793 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019875
 protein coding gene Chr14:13271697-13272949 (+)
WSB/EiJ MGP_WSBEiJ_G0020360
 protein coding gene Chr14:13459401-13460762 (+)



Homology
more
  • Human Ortholog
    CHCHD1, coiled-coil-helix-coiled-coil-helix domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHCHD1, coiled-coil-helix-coiled-coil-helix domain containing 1
  • Synonyms
    C10orf34, C2360, MRP-S37, mS37
  • Links
    NCBI Gene ID: 118487
    neXtProt AC: NX_Q96BP2
    UniProt: Q96BP2

  • Chr Location
    10q22.2; chr10:73782047-73783652 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 2 genetic backgrounds
    8 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    6
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
    706
  • cDNA Data
    51
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66121 NCBI Gene Model | MGI Sequence Detail 1399 C57BL/6J ±  kb
    transcript NM_025366 RefSeq | MGI Sequence Detail 619 C57BL/6  
    polypeptide Q9CQA6 UniProt | EBI | MGI Sequence Detail 118 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 53

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1916988
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 1
      Gene Ontology 6
      Phenotypes 8
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory