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    AHDC1 AT-hook DNA binding motif containing 1 [ Homo sapiens (human) ]

    Gene ID: 27245, updated on 10-Dec-2024

    Summary

    Official Symbol
    AHDC1provided by HGNC
    Official Full Name
    AT-hook DNA binding motif containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25230
    See related
    Ensembl:ENSG00000126705 MIM:615790; AllianceGenome:HGNC:25230
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRD25; XIGIS
    Summary
    This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 6.6), endometrium (RPKM 6.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AHDC1 in Genome Data Viewer
    Location:
    1p36.11-p35.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27534245..27604227, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27375551..27445533, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27860756..27930655, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 549 Neighboring gene WASP family member 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27756559-27757532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27816920-27817464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27817465-27818009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27830147-27830734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27830735-27831320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27831321-27831907 Neighboring gene uncharacterized LOC105376892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27849319-27849901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27851813-27852451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27855359-27856073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27864051-27864652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869009-27869527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869528-27870045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27881926-27882481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27889385-27890112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27907956-27908485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27918399-27918972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27919547-27920120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27920121-27920694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922307-27922832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922833-27923358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27924447-27925402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27925403-27926360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27926361-27927316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27928027-27928623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 524 Neighboring gene Sharpr-MPRA regulatory region 12291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27939571-27940071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27941009-27941556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27950023-27950844 Neighboring gene Sharpr-MPRA regulatory region 6936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27958413-27958913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 564 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 565 Neighboring gene uncharacterized LOC729973

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-02-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables promoter-enhancer loop anchoring activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor Gibbin
    Names
    AT-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.

    Genomic

    1. NG_034158.1 RefSeqGene

      Range
      4351..74250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001029882.3NP_001025053.1  transcription factor Gibbin

      See identical proteins and their annotated locations for NP_001025053.1

      Status: REVIEWED

      Source sequence(s)
      AL031729, BC002677, BC064935, BM989685
      Consensus CDS
      CCDS30652.1
      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Related
      ENSP00000363123.2, ENST00000374011.6
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    2. NM_001371928.1NP_001358857.1  transcription factor Gibbin

      Status: REVIEWED

      Source sequence(s)
      AL031729
      Consensus CDS
      CCDS30652.1
      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Related
      ENSP00000501218.1, ENST00000673934.1
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      27534245..27604227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418019.1XP_047273975.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    2. XM_047418022.1XP_047273978.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    3. XM_047418017.1XP_047273973.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Related
      ENSP00000494394.1, ENST00000642416.1
    4. XM_011541255.2XP_011539557.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_011539557.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    5. XM_047418013.1XP_047273969.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    6. XM_047418021.1XP_047273977.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    7. XM_047418011.1XP_047273967.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    8. XM_047418014.1XP_047273970.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    9. XM_047418018.1XP_047273974.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    10. XM_005245851.4XP_005245908.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_005245908.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Related
      ENSP00000495072.1, ENST00000642245.1
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    11. XM_047418012.1XP_047273968.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    12. XM_047418016.1XP_047273972.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    13. XM_005245852.4XP_005245909.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_005245909.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    14. XM_005245849.4XP_005245906.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_005245906.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    15. XM_011541256.3XP_011539558.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_011539558.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    16. XM_005245850.4XP_005245907.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_005245907.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    17. XM_047418020.1XP_047273976.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    18. XM_011541257.3XP_011539559.1  transcription factor Gibbin isoform X1

      See identical proteins and their annotated locations for XP_011539559.1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
      Conserved Domains (2) summary
      PRK12323
      Location:8561052
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15735
      Location:594642
      DUF4683; Domain of unknown function (DUF4683)
    19. XM_047418023.1XP_047273979.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    20. XM_047418010.1XP_047273966.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    21. XM_047418015.1XP_047273971.1  transcription factor Gibbin isoform X1

      UniProtKB/Swiss-Prot
      Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

    RNA

    1. XR_007059184.1 RNA Sequence

    2. XR_007059182.1 RNA Sequence

    3. XR_007059183.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      27375551..27445533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336031.1XP_054192006.1  transcription factor Gibbin isoform X1

    2. XM_054336035.1XP_054192010.1  transcription factor Gibbin isoform X1

    3. XM_054336029.1XP_054192004.1  transcription factor Gibbin isoform X1

    4. XM_054336018.1XP_054191993.1  transcription factor Gibbin isoform X1

    5. XM_054336024.1XP_054191999.1  transcription factor Gibbin isoform X1

    6. XM_054336034.1XP_054192009.1  transcription factor Gibbin isoform X1

    7. XM_054336022.1XP_054191997.1  transcription factor Gibbin isoform X1

    8. XM_054336025.1XP_054192000.1  transcription factor Gibbin isoform X1

    9. XM_054336030.1XP_054192005.1  transcription factor Gibbin isoform X1

    10. XM_054336017.1XP_054191992.1  transcription factor Gibbin isoform X1

    11. XM_054336033.1XP_054192008.1  transcription factor Gibbin isoform X1

    12. XM_054336027.1XP_054192002.1  transcription factor Gibbin isoform X1

    13. XM_054336028.1XP_054192003.1  transcription factor Gibbin isoform X1

    14. XM_054336020.1XP_054191995.1  transcription factor Gibbin isoform X1

    15. XM_054336023.1XP_054191998.1  transcription factor Gibbin isoform X1

    16. XM_054336019.1XP_054191994.1  transcription factor Gibbin isoform X1

    17. XM_054336032.1XP_054192007.1  transcription factor Gibbin isoform X1

    18. XM_054336036.1XP_054192011.1  transcription factor Gibbin isoform X1

    19. XM_054336021.1XP_054191996.1  transcription factor Gibbin isoform X1

    20. XM_054336026.1XP_054192001.1  transcription factor Gibbin isoform X1

    RNA

    1. XR_008486000.1 RNA Sequence

    2. XR_008485998.1 RNA Sequence

    3. XR_008485999.1 RNA Sequence