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] See more...

Aliases for AHDC1 Gene

Aliases for AHDC1 Gene

  • AT-Hook DNA Binding Motif Containing 1 2 3 5
  • AT-Hook DNA-Binding Motif-Containing Protein 1 3 4
  • AT Hook, DNA Binding Motif, Containing 1 2
  • MRD25 3

External Ids for AHDC1 Gene

Previous GeneCards Identifiers for AHDC1 Gene

  • GC01M027733
  • GC01M027860
  • GC01M026116

Summaries for AHDC1 Gene

Entrez Gene Summary for AHDC1 Gene

  • 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]

GeneCards Summary for AHDC1 Gene

AHDC1 (AT-Hook DNA Binding Motif Containing 1) is a Protein Coding gene. Diseases associated with AHDC1 include Xia-Gibbs Syndrome and Sleep Apnea. Among its related pathways are Mesodermal Commitment Pathway.

Additional gene information for AHDC1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AHDC1 Gene

Genomics for AHDC1 Gene

GeneHancer (GH) Regulatory Elements for AHDC1 Gene

Promoters and enhancers for AHDC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHDC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AHDC1 gene promoter:
  • AREB6
  • c-Ets-1
  • GATA-2
  • LUN-1
  • Nkx5-1
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1

Genomic Locations for AHDC1 Gene

Genomic Locations for AHDC1 Gene
chr1:27,534,035-27,604,431
(GRCh38/hg38)
Size:
70,397 bases
Orientation:
Minus strand
chr1:27,860,546-27,930,942
(GRCh37/hg19)
Size:
70,397 bases
Orientation:
Minus strand

Genomic View for AHDC1 Gene

Genes around AHDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHDC1 Gene

Proteins for AHDC1 Gene

  • Protein details for AHDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TGY3-AHDC1_HUMAN
    Recommended name:
    AT-hook DNA-binding motif-containing protein 1
    Protein Accession:
    Q5TGY3
    Secondary Accessions:
    • Q5TGY4
    • Q6PJK1
    • Q6ZUQ6
    • Q99769
    • Q9NUF5

    Protein attributes for AHDC1 Gene

    Size:
    1603 amino acids
    Molecular mass:
    168349 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB50205.1; Type=Frameshift; Positions=1331; Evidence={ECO:0000305}; Sequence=BAC86163.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for AHDC1 Gene

Post-translational modifications for AHDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AHDC1 Gene

Domains & Families for AHDC1 Gene

Gene Families for AHDC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AHDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHDC1 Gene

GenScript: Design optimal peptide antigens:
  • AT-hook DNA-binding motif-containing protein 1 (AHDC1_HUMAN)
genes like me logo Genes that share domains with AHDC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AHDC1 Gene

Function for AHDC1 Gene

Phenotypes From GWAS Catalog for AHDC1 Gene

Gene Ontology (GO) - Molecular Function for AHDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with AHDC1: view
genes like me logo Genes that share phenotypes with AHDC1: view

Human Phenotype Ontology for AHDC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AHDC1 Gene

Localization for AHDC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHDC1 gene
Compartment Confidence
nucleus 3
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AHDC1 Gene

Pathways & Interactions for AHDC1 Gene

PathCards logo

SuperPathways for AHDC1 Gene

genes like me logo Genes that share pathways with AHDC1: view

Pathways by source for AHDC1 Gene

2 BioSystems pathways for AHDC1 Gene

Gene Ontology (GO) - Biological Process for AHDC1 Gene

None

No data available for SIGNOR curated interactions for AHDC1 Gene

Drugs & Compounds for AHDC1 Gene

No Compound Related Data Available

Transcripts for AHDC1 Gene

mRNA/cDNA for AHDC1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AHDC1 Gene

No ASD Table

Relevant External Links for AHDC1 Gene

GeneLoc Exon Structure for
AHDC1
ECgene alternative splicing isoforms for
AHDC1

Expression for AHDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AHDC1 Gene

Protein differential expression in normal tissues from HIPED for AHDC1 Gene

This gene is overexpressed in Liver (39.7), Heart (12.2), and Adipocyte (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AHDC1 Gene



Protein tissue co-expression partners for AHDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AHDC1 Gene:

AHDC1

SOURCE GeneReport for Unigene cluster for AHDC1 Gene:

Hs.469280

Evidence on tissue expression from TISSUES for AHDC1 Gene

  • Nervous system(4.3)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AHDC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • vocal cord
Thorax:
  • lung
  • trachea
General:
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with AHDC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AHDC1 Gene

Orthologs for AHDC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AHDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHDC1 33 32
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AHDC1 33 32
  • 91.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AHDC1 33 32
  • 90.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ahdc1 17 33 32
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Ahdc1 32
  • 87.86 (n)
oppossum
(Monodelphis domestica)
Mammalia AHDC1 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHDC1 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859023 32
  • 75.05 (n)
lizard
(Anolis carolinensis)
Reptilia AHDC1 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahdc1 32
  • 59.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14696 32
zebrafish
(Danio rerio)
Actinopterygii ahdc1 33
  • 36 (a)
OneToOne
Species where no ortholog for AHDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AHDC1 Gene

ENSEMBL:
Gene Tree for AHDC1 (if available)
TreeFam:
Gene Tree for AHDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AHDC1: view image

Paralogs for AHDC1 Gene

No data available for Paralogs for AHDC1 Gene

Variants for AHDC1 Gene

Sequence variations from dbSNP and Humsavar for AHDC1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1135401761 pathogenic, Xia-Gibbs syndrome 27,548,302(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1135401946 uncertain-significance, Xia-Gibbs syndrome 27,551,779(-) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1165205177 likely-pathogenic, Xia-Gibbs syndrome 27,550,054(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1553158393 pathogenic, Xia-Gibbs syndrome 27,548,619(-) G/C coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1553158517 likely-pathogenic, Xia-Gibbs syndrome 27,548,947(-) CACA/CA coding_sequence_variant, inframe_indel, non_coding_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for AHDC1 Gene

Variant ID Type Subtype PubMed ID
dgv14n27 CNV loss 19166990
dgv219n54 CNV loss 21841781
dgv220n54 CNV loss 21841781
esv28987 CNV loss 19812545
esv3375492 CNV duplication 20981092
esv3585560 CNV loss 21293372
esv6834 CNV gain 19470904
nsv1014991 CNV gain 25217958
nsv1110128 CNV duplication 24896259
nsv460917 CNV loss 19166990
nsv476781 CNV novel sequence insertion 20440878
nsv508700 CNV deletion 20534489
nsv520790 CNV loss 19592680
nsv522842 CNV gain 19592680
nsv950343 CNV deletion 24416366

Variation tolerance for AHDC1 Gene

Residual Variation Intolerance Score: 1.59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AHDC1 Gene

Human Gene Mutation Database (HGMD)
AHDC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHDC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHDC1 Gene

Disorders for AHDC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AHDC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
xia-gibbs syndrome
  • mental retardation, autosomal dominant 25; mrd25
sleep apnea
  • sleep apnea syndromes
alacrima, achalasia, and mental retardation syndrome
  • aamr
abdominal obesity-metabolic syndrome 3
  • aoms3
hypotonia
- elite association - COSMIC cancer census association via MalaCards
Search AHDC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AHDC1_HUMAN
  • Mental retardation, autosomal dominant 25 (MRD25) [MIM:615829]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD25 additional features include mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination. {ECO:0000269 PubMed:24791903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AHDC1

genes like me logo Genes that share disorders with AHDC1: view

No data available for Genatlas for AHDC1 Gene

Publications for AHDC1 Gene

  1. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 4 56
  2. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (PMID: 24791903) Xia F … Gibbs RA (American journal of human genetics 2014) 3 4 56
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 56
  4. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. (PMID: 30729726) Cheng X … Shen Y (Molecular genetics & genomic medicine 2019) 3 56
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 56

Products for AHDC1 Gene

Sources for AHDC1 Gene