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Aliases for AHDC1 Gene

Aliases for AHDC1 Gene

  • AT Hook, DNA Binding Motif, Containing 1 2 3
  • 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 ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHDC1 Gene

Genomics for AHDC1 Gene

Regulatory Elements for AHDC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AHDC1 Gene

Chromosome:
1
Start:
27,534,035 bp from pter
End:
27,604,431 bp from pter
Size:
70,397 bases
Orientation:
Minus strand

Genomic View for AHDC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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}; Sequence=CAI19618.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for AHDC1 Gene

Proteomics data for AHDC1 Gene at MOPED

Post-translational modifications for AHDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AHDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AHDC1 Gene

Domains & Families for AHDC1 Gene

Protein Domains for AHDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TGY3

UniProtKB/Swiss-Prot:

AHDC1_HUMAN :
  • Contains 2 A.T hook DNA-binding domains.
Domain:
  • Contains 2 A.T hook DNA-binding domains.
genes like me logo Genes that share domains with AHDC1: view

No data available for Gene Families for AHDC1 Gene

Function 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

Phenotypes for AHDC1 Gene

GenomeRNAi human phenotypes for AHDC1:
genes like me logo Genes that share phenotypes with AHDC1: view

Animal Model Products

miRNA for AHDC1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AHDC1

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for AHDC1 Gene COMPARTMENTS Subcellular localization image for AHDC1 gene
Compartment Confidence
nucleus 2

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

Pathways & Interactions for AHDC1 Gene

SuperPathways for AHDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHDC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AHDC1 Gene

Drugs & Compounds for AHDC1 Gene

No Compound Related Data Available

Transcripts for AHDC1 Gene

Unigene Clusters for AHDC1 Gene

AT hook, DNA binding motif, containing 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AHDC1

Flow Cytometry 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 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, PaxDb, MOPED, and MaxQB for AHDC1 Gene



SOURCE GeneReport for Unigene cluster for AHDC1 Gene Hs.469280

genes like me logo Genes that share expression patterns with AHDC1: view

Protein tissue co-expression partners for AHDC1 Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
AHDC1 35
  • 99.4 (n)
  • 99.63 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia AHDC1 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahdc1 36
  • 95 (a)
OneToOne
Ahdc1 16
Ahdc1 35
  • 88.1 (n)
  • 95.17 (a)
oppossum
(Monodelphis domestica)
Mammalia AHDC1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHDC1 36
  • 97 (a)
OneToOne
AHDC1 35
  • 91.59 (n)
  • 96.67 (a)
cow
(Bos Taurus)
Mammalia AHDC1 36
  • 97 (a)
OneToOne
AHDC1 35
  • 90.75 (n)
  • 96.62 (a)
rat
(Rattus norvegicus)
Mammalia Ahdc1 35
  • 87.86 (n)
  • 94.6 (a)
chicken
(Gallus gallus)
Aves LOC100859023 35
  • 75.05 (n)
  • 73.21 (a)
lizard
(Anolis carolinensis)
Reptilia AHDC1 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14696 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ahdc1 35
  • 59.83 (n)
  • 60.61 (a)
zebrafish
(Danio rerio)
Actinopterygii ahdc1 36
  • 36 (a)
OneToOne
Species with no ortholog for AHDC1:
  • 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)

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 Sequence Context AA Info Type MAF
rs742464 -- 27,536,280(-) GGACC(C/T)TGGGG intron-variant
rs742465 -- 27,564,415(-) TCCTT(A/G)TGAGG intron-variant
rs761070 -- 27,564,047(-) CTATG(C/G)GGGTC intron-variant
rs999353 -- 27,598,166(-) GCTGC(C/T)ACTGA intron-variant
rs1292090 -- 27,559,433(-) aTGTG(C/T)ATGTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv203n71 CNV Loss 21882294
dgv14n27 CNV Loss 19166990
dgv205n71 CNV Loss 21882294
nsv460917 CNV Loss 19166990
nsv522842 CNV Gain 19592680
dgv206n71 CNV Loss 21882294
dgv207n71 CNV Loss 21882294
nsv520790 CNV Loss 19592680
esv6834 CNV Gain 19470904
nsv508700 CNV Loss 20534489
esv28987 CNV Loss 19812545

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)

Relevant External Links for AHDC1 Gene

HapMap Linkage Disequilibrium report
AHDC1
Human Gene Mutation Database (HGMD)
AHDC1

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

Disorders for AHDC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
xia-gibbs syndrome
  • mental retardation, autosomal dominant 25
ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
  • xia-gibbs syndrome
sleep apnea
  • sleep apnea syndromes
intellectual disability
conotruncal heart malformations
  • double-outlet right ventricle
- elite association
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.

Relevant External Links for AHDC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.A. (Genome Res. 1997) 2 67
  2. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (PMID: 24791903) Xia F. … Gibbs R.A. (Am. J. Hum. Genet. 2014) 67
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 67

Products for AHDC1 Gene

Sources for AHDC1 Gene

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