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Ahdc1 AT hook, DNA binding motif, containing 1 [ Mus musculus (house mouse) ]

Gene ID: 230793, updated on 2-Nov-2024

Summary

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Official Symbol
Ahdc1provided by MGI
Official Full Name
AT hook, DNA binding motif, containing 1provided by MGI
Primary source
MGI:MGI:2444218
See related
Ensembl:ENSMUSG00000037692 AllianceGenome:MGI:2444218
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
D030015G18Rik
Summary
Predicted to enable DNA-binding transcription factor activity and promoter-enhancer loop anchoring activity. Involved in mesoderm formation and skin morphogenesis. Predicted to be located in chromosome. Predicted to be active in nucleus. Is expressed in brain; embryo; and limb. Used to study Xia-Gibbs Syndrome. Human ortholog(s) of this gene implicated in Xia-Gibbs Syndrome. Orthologous to human AHDC1 (AT-hook DNA binding motif containing 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 19.5), ovary adult (RPKM 13.3) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Ahdc1 in Genome Data Viewer
Location:
4 D2.3; 4 66.18 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (132738797..132805421)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (133011265..133078110)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11589 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132531847-132532036 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132533610-132533847 Neighboring gene STARR-seq mESC enhancer starr_11591 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase Neighboring gene predicted gene, 36599 Neighboring gene STARR-seq mESC enhancer starr_11597 Neighboring gene STARR-seq mESC enhancer starr_11602 Neighboring gene STARR-seq mESC enhancer starr_11605 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132641898-132642156 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132641373-132641556 Neighboring gene STARR-seq mESC enhancer starr_11611 Neighboring gene STARR-seq mESC enhancer starr_11614 Neighboring gene nuclear encoded tRNA glycine 1 (anticodon GCC) Neighboring gene STARR-positive B cell enhancer ABC_E123 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132688057-132688210 Neighboring gene STARR-seq mESC enhancer starr_11615 Neighboring gene WASP family, member 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132725518-132725684 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:132730221-132730450 Neighboring gene STARR-seq mESC enhancer starr_11616 Neighboring gene microRNA 7017

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Ahdc1 is a potent regulator of obesity and energy metabolism. Li L, et al. Am J Physiol Endocrinol Metab, 2023 Nov 1. PMID 37819197
  2. Gibbin mesodermal regulation patterns epithelial development. Collier A, et al. Nature, 2022 Jun. PMID 35585237, Free PMC Article
  3. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Quintero-Rivera F, et al. Hum Mol Genet, 2015 Apr 15. PMID 25574029, Free PMC Article
  4. Efficient conditional and promoter-specific in vivo expression of cDNAs of choice by taking advantage of recombinase-mediated cassette exchange using FlEx gene traps. Schebelle L, et al. Nucleic Acids Res, 2010 May. PMID 20139417, Free PMC Article
  5. Post-entrapment genome engineering: first exon size does not affect the expression of fusion transcripts generated by gene entrapment. Osipovich AB, et al. Genome Res, 2005 Mar. PMID 15741512, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ahdc1 is a potent regulator of obesity and energy metabolism.
    Title: Ahdc1 is a potent regulator of obesity and energy metabolism.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC29331

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
  
enables DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables promoter-enhancer loop anchoring activity ISO
Inferred from Sequence Orthology
more info
  
enables promoter-enhancer loop anchoring activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mesoderm formation ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skin morphogenesis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
transcription factor Gibbin
Names
AT-hook DNA-binding motif-containing protein 1
a.T hook DNA-binding motif-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001404130.1 → NP_001391059.1  transcription factor Gibbin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL627184
    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Related
    ENSMUSP00000101535.2, ENSMUST00000105915.8

  2. NM_001404131.1 → NP_001391060.1  transcription factor Gibbin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL627184
    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7

  3. NM_001404132.1 → NP_001391061.1  transcription factor Gibbin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL627184
    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7

  4. NM_001404133.1 → NP_001391062.1  transcription factor Gibbin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL627184
    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7

  5. NM_146155.3 → NP_666267.3  transcription factor Gibbin isoform 1

    See identical proteins and their annotated locations for NP_666267.3

    Status: VALIDATED

    Source sequence(s)
    AK149347, AL627184, BC060231
    Consensus CDS
    CCDS38900.1
    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Related
    ENSMUSP00000101536.2, ENSMUST00000105916.8
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    132738797..132805421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011250231.2 → XP_011248533.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_011248533.1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

  2. XM_006538739.2 → XP_006538802.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_006538802.1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

  3. XM_006538734.2 → XP_006538797.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_006538797.1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

  4. XM_006538742.2 → XP_006538805.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_006538805.1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

  5. XM_030253464.2 → XP_030109324.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

  6. XM_006538736.4 → XP_006538799.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_006538799.1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)

  7. XM_036164065.1 → XP_036019958.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    Related
    ENSMUSP00000101534.2, ENSMUST00000105914.2
    Conserved Domains (2) summary
    PHA03247
    Location:857 → 1069
    PHA03247; large tegument protein UL36; Provisional
    pfam15735
    Location:591 → 639
    DUF4683; Domain of unknown function (DUF4683)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PAL7.1 GenPept UniProtKB/Swiss-Prot:Q6PAL7

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