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Ahdc1 Gene Detail
Summary
  • Symbol
    Ahdc1
  • Name
    AT hook, DNA binding motif, containing 1
  • Synonyms
    D030015G18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444218
    NCBI Gene: 230793
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:132738797-132805421 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 66.18 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1322 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444218
 protein coding gene Chr4:132738571-132805421 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028885
 protein coding gene Chr4:135225906-135299261 (+)
A/J MGP_AJ_G0028844
 protein coding gene Chr4:129585616-129652024 (+)
AKR/J MGP_AKRJ_G0028797
 protein coding gene Chr4:133251121-133322369 (+)
BALB/cJ MGP_BALBcJ_G0028867
 protein coding gene Chr4:130201057-130272565 (+)
C3H/HeJ MGP_C3HHeJ_G0028581
 protein coding gene Chr4:133502149-133576105 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029309
 protein coding gene Chr4:140085426-140161066 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026580
 protein coding gene Chr4:122657447-122731480 (+)
CAST/EiJ MGP_CASTEiJ_G0028014
 protein coding gene Chr4:131599242-131667551 (+)
CBA/J MGP_CBAJ_G0028547
 protein coding gene Chr4:143703494-143785753 (+)
DBA/2J MGP_DBA2J_G0028696
 protein coding gene Chr4:130003603-130071781 (+)
FVB/NJ MGP_FVBNJ_G0028663
 protein coding gene Chr4:128865999-128940009 (+)
LP/J MGP_LPJ_G0028797
 protein coding gene Chr4:135359470-135436892 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028689
 protein coding gene Chr4:148279681-148350324 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029347
 protein coding gene Chr4:133663241-133735537 (+)
PWK/PhJ MGP_PWKPhJ_G0027735
 protein coding gene Chr4:126705125-126773700 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027561
 protein coding gene Chr4:129519510-129587805 (+)
WSB/EiJ MGP_WSBEiJ_G0028094
 protein coding gene Chr4:133835857-133908045 (+)



Homology
more
  • Human Ortholog
    AHDC1, AT-hook DNA binding motif containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AHDC1, AT-hook DNA binding motif containing 1
  • Synonyms
    MRD25, XIGIS
  • Links
    NCBI Gene ID: 27245
    neXtProt AC: NX_Q5TGY3
    UniProt: Q5TGY3

  • Chr Location
    1p36.11-p35.3; chr1:27534035-27604431 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ahdc1 mouse models; 1 with human AHDC1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    17 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.
Mosaic mice with CRISPR cutting on at least one allele exhibit developmental patterning defects affecting craniofacial structure, abdominal wall closure and epidermal stratification that mirror phenotypes seen in Xia-Gibbs syndrome.
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
    723
  • Tissues
    13
  • cDNA Data
    9
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 230793 NCBI Gene Model | MGI Sequence Detail 66625 C57BL/6J ±  kb
    transcript NM_146155 RefSeq | MGI Sequence Detail 6602 C57BL/6  
    polypeptide Q6PAL7 UniProt | EBI | MGI Sequence Detail 1594 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 9
      Primer pair 1
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      Phenotypes 17
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:326009 Collier A, et al., Gibbin mesodermal regulation patterns epithelial development. Nature. 2022 Jun;606(7912):188-196
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory