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

Gene ID: 27245, updated on 4-Nov-2018

Summary

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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; Vega:OTTHUMG00000003398
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
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
mouse all

Genomic context

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See AHDC1 in Genome Data Viewer
Location:
1p36.11-p35.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (27534245..27604178, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27860756..27930463, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene WAS protein family member 2 Neighboring gene uncharacterized LOC105376892 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase Neighboring gene uncharacterized LOC729973

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Jun 15 11:32:44 2016

Bibliography

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Related articles in PubMed

  1. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome. García-Acero M, et al. Mol Syndromol, 2017 Nov. PMID 29230160, Free PMC Article
  2. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Yang H, et al. Cold Spring Harb Mol Case Stud, 2015 Oct. PMID 27148574, Free PMC Article
  3. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Xia F, et al. Am J Hum Genet, 2014 May 1. PMID 24791903, Free PMC Article
  4. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nozawa RS, et al. Nat Cell Biol, 2010 Jul. PMID 20562864
  5. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. Wong KA, et al. PLoS One, 2012. PMID 22558309, Free PMC Article

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. this study hasidentified AHDC1 de novo truncating mutations that most likely cause syndromic expressive language delay, hypotonia, and sleep apnea.
    Title: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Xia-Gibbs syndrome
MedGen: C4014419 OMIM: 615829 GeneReviews: Not available
Compare labs

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from BioSystems

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  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
AT-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.

Genomic

  1. NG_034158.1 RefSeqGene

    Range
    5001..74250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029882.3 → NP_001025053.1  AT-hook DNA-binding motif-containing protein 1

    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
    Related
    ENSP00000363123.2, ENST00000374011.6
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    27534245..27604178 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541255.1 → XP_011539557.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011539557.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  2. XM_024446461.1 → XP_024302229.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    Related
    ENSP00000247087.4, ENST00000247087.10
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  3. XM_005245851.3 → XP_005245908.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245908.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Related
    ENSP00000495072.1, ENST00000642245.1
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  4. XM_005245852.3 → XP_005245909.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245909.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Related
    OTTHUMP00000003476, OTTHUMT00000009523
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  5. XM_005245848.3 → XP_005245905.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245905.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  6. XM_005245849.3 → XP_005245906.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245906.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  7. XM_011541256.2 → XP_011539558.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011539558.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  8. XM_005245850.3 → XP_005245907.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005245907.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  9. XM_011541257.2 → XP_011539559.1  AT-hook DNA-binding motif-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011539559.1

    UniProtKB/Swiss-Prot
    Q5TGY3
    Conserved Domains (2) summary
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)
    cl26386
    Location:856 → 1052
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RNA

  1. XR_946609.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TGY3.1 GenPept UniProtKB/Swiss-Prot:Q5TGY3

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