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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
Title: AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
Gibbin mesodermal regulation patterns epithelial development.
Title: Gibbin mesodermal regulation patterns epithelial development.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Title: Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
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.
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.
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.
Three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals.
Title: Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
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.
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.

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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
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MedGen: C4014419 OMIM: 615829 GeneReviews: Xia-Gibbs Syndrome	not available

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1421 (e-PCR)
- UniSTS:149617

A009C01 (e-PCR)
- UniSTS:2953

SHGC-33185 (e-PCR)
- UniSTS:81051

AL034084 (e-PCR)
- UniSTS:93865

G32400 (e-PCR)
- UniSTS:116987

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

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Preferred Names: transcription factor Gibbin

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

NG_034158.1 RefSeqGene

Range

4351..74250

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001029882.3 → NP_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:856 → 1052

PRK12323; DNA polymerase III subunit gamma/tau

pfam15735
Location:594 → 642

DUF4683; Domain of unknown function (DUF4683)
NM_001371928.1 → NP_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:856 → 1052

PRK12323; DNA polymerase III subunit gamma/tau

pfam15735
Location:594 → 642

DUF4683; Domain of unknown function (DUF4683)