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

    Gene ID: 230793, updated on 23-Mar-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 activity. Is expressed in brain; embryo; and limb. 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, Apr 2022]
    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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    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
    • 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. Gibbin mesodermal regulation patterns epithelial development. Collier A, et al. Nature, 2022 Jun. PMID 35585237, Free PMC Article
    2. 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
    3. 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
    4. 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
    5. Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes. Ostapcuk V, et al. Nature, 2018 May. PMID 29795351

    See all (25) 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    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
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within 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
    		  
    acts_upstream_of_or_within multicellular organism development 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
    		  

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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