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

Gene ID: 27245, updated on 5-Sep-2021

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
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
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Genomic context

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See AHDC1 in Genome Data Viewer
Location:
1p36.11-p35.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (27534245..27604178, complement)
105.20201022 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 WASP family member 2 Neighboring gene uncharacterized LOC105376892 Neighboring gene Sharpr-MPRA regulatory region 12291 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase

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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1. Faergeman SL, et al. Eur J Med Genet, 2021 Sep. PMID 34229113
  2. Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea. Yang S, et al. Biomed Res Int, 2019. PMID 31737670, Free PMC Article
  3. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. Cheng X, et al. Mol Genet Genomic Med, 2019 Apr. PMID 30729726, Free PMC Article
  4. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. Wang Q, et al. Eur J Med Genet, 2020 Jan. PMID 30615951
  5. 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

See all (39) citations in PubMed

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
    Title: Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
  2. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
    Title: Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
  3. we unveiled that LINC01133 may function as a ceRNA for miR-4784 to advance AHDC1 expression, intensifying CC cell malignant phenotypes and EMT process, which may demonstrate the implied value of LINC01133 as a therapeutic target for CC patients.
    Title: LINC01133 promotes the progression of cervical cancer by sponging miR-4784 to up-regulate AHDC1.
  4. Three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals.
    Title: Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
  5. De novo heterozygous variants in AHDC1 gene were identified in two patients with partial growth hormone deficiency.
    Title: Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
  6. 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

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
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

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
    4351..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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  2. NM_001371928.1 → NP_001358857.1  AT-hook DNA-binding motif-containing protein 1

    Status: REVIEWED

    Source sequence(s)
    AL031729
    Related
    ENSP00000501218.1, ENST00000673934.1
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  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
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

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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