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Ankhd1 Gene Detail
Summary
  • Symbol
    Ankhd1
  • Name
    ankyrin repeat and KH domain containing 1
  • Synonyms
    1110004O12Rik, 4933432B13Rik, 9130019P20Rik, A530027J04Rik, mKIAA1085
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921733
    NCBI Gene: 108857
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:36693656-36791961 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 19.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1473 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921733
 protein coding gene Chr18:36693040-36791966 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024280
 protein coding gene Chr18:34964274-35074253 (+)
A/J MGP_AJ_G0024246
 protein coding gene Chr18:33729754-33836567 (+)
AKR/J MGP_AKRJ_G0024214
 protein coding gene Chr18:34673273-34784206 (+)
BALB/cJ MGP_BALBcJ_G0024246
 protein coding gene Chr18:33780936-33888924 (+)
C3H/HeJ MGP_C3HHeJ_G0024013
 protein coding gene Chr18:34737644-34849594 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024687
 protein coding gene Chr18:36185454-36304056 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022127
 protein coding gene Chr18:33824957-33931213 (+)
CAST/EiJ MGP_CASTEiJ_G0023488
 protein coding gene Chr18:34745246-34859989 (+)
CBA/J MGP_CBAJ_G0023981
 protein coding gene Chr18:37263555-37379376 (+)
DBA/2J MGP_DBA2J_G0024113
 protein coding gene Chr18:33353160-33459598 (+)
FVB/NJ MGP_FVBNJ_G0024080
 protein coding gene Chr18:33058210-33166196 (+)
LP/J MGP_LPJ_G0024195
 protein coding gene Chr18:34986541-35103225 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024108
 protein coding gene Chr18:38473074-38594384 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024736
 protein coding gene Chr18:34544839-34657892 (+)
PWK/PhJ MGP_PWKPhJ_G0023232
 protein coding gene Chr18:33601693-33712473 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023039
 protein coding gene Chr18:34796678-34903119 (+)
WSB/EiJ MGP_WSBEiJ_G0023551
 protein coding gene Chr18:34466968-34578340 (+)



Homology
more
  • Human Ortholog
    ANKHD1, ankyrin repeat and KH domain containing 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANKHD1, ankyrin repeat and KH domain containing 1
  • Synonyms
    MASK, MASK1, PP2500, VBARP
  • Links
    NCBI Gene ID: 54882
    neXtProt AC: NX_Q8IWZ3
    UniProt: Q8IWZ3

  • Chr Location
    5q31.3; chr5:140401814-140539856 (+)  GRCh38
  • Human Ortholog
    ANKHD1-EIF4EBP3, ANKHD1-EIF4EBP3 readthrough
  • Synonyms
    MASK-BP3, MASK-BP3ARF
  • Links
    NCBI Gene ID: 404734
    neXtProt AC: NX_Q8IWZ3

  • Chr Location
    5q31.3; chr5:140401833-140549576 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    12 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
    2
  • GO References
    1
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
    728
  • Tissues
    21
  • cDNA Data
    124
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 108857 NCBI Gene Model | MGI Sequence Detail 98306 C57BL/6J ±  kb
    transcript NM_175375 RefSeq | MGI Sequence Detail 8251 C57BL/6  
    polypeptide NP_780584 RefSeq | MGI Sequence Detail 2548 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      13 Sequences
    • InterPro Domains
      IPR002110 Ankyrin repeat
      IPR047374 Ankyrin repeat and KH domain-containing protein 1, type I K homology domain
      IPR051631 Ankyrin repeat and KH/SAM domain-containing protein
      IPR036770 Ankyrin repeat-containing domain superfamily
      IPR004087 K Homology domain
      IPR004088 K Homology domain, type 1
      IPR036612 K Homology domain, type 1 superfamily
    • GlyGen
      E9PUR0 7 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (5 sites)
    Molecular
    Reagents
    less
    • All nucleic 128
      cDNA 127
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1918845, MGI:1919033, MGI:2145573, MGI:2443427
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 3
      Gene Ontology 1
      Phenotypes 12
    • 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
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory