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

    Gene ID: 230793, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 19.5), ovary adult (RPKM 13.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001404130.1NP_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_001404131.1NP_001391060.1  transcription factor Gibbin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL627184
      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    3. NM_001404132.1NP_001391061.1  transcription factor Gibbin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL627184
      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    4. NM_001404133.1NP_001391062.1  transcription factor Gibbin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL627184
      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
    5. NM_146155.3NP_666267.3  transcription factor Gibbin isoform 1

      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:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      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_011250231.2XP_011248533.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
      Conserved Domains (2) summary
      PHA03247
      Location:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)
    2. XM_006538739.2XP_006538802.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
      Conserved Domains (2) summary
      PHA03247
      Location:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)
    3. XM_006538734.2XP_006538797.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
      Conserved Domains (2) summary
      PHA03247
      Location:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)
    4. XM_006538742.2XP_006538805.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
      Conserved Domains (2) summary
      PHA03247
      Location:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)
    5. XM_030253464.2XP_030109324.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
      Conserved Domains (2) summary
      PHA03247
      Location:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)
    6. XM_006538736.4XP_006538799.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5U5N7, Q6PAL7, Q8C4Y6, Q8VCU7
      Conserved Domains (2) summary
      PHA03247
      Location:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)
    7. XM_036164065.1XP_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:8571069
      PHA03247; large tegument protein UL36; Provisional
      pfam15735
      Location:591639
      DUF4683; Domain of unknown function (DUF4683)