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Aliases for AHNAK Gene

Aliases for AHNAK Gene

  • AHNAK Nucleoprotein 2 3
  • Desmoyokin 2 3 4
  • Neuroblast Differentiation-Associated Protein AHNAK 3
  • AHNAK Nucleoprotein (Desmoyokin) 2
  • AHNAK-Related 3
  • PM227 4

External Ids for AHNAK Gene

Summaries for AHNAK Gene

GeneCards Summary for AHNAK Gene

AHNAK (AHNAK Nucleoprotein) is a Protein Coding gene. An important paralog of this gene is AHNAK2.

UniProtKB/Swiss-Prot for AHNAK Gene

  • May be required for neuronal cell differentiation

Gene Wiki entry for AHNAK Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHNAK Gene

Genomics for AHNAK Gene

Genomic Location for AHNAK Gene

62,433,542 bp from pter
62,556,235 bp from pter
122,694 bases
Minus strand

Genomic View for AHNAK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AHNAK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHNAK Gene

Regulatory Elements for AHNAK Gene

Proteins for AHNAK Gene

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

    Protein Symbol:
    Recommended name:
    Neuroblast differentiation-associated protein AHNAK
    Protein Accession:
    Secondary Accessions:
    • A1A586

    Protein attributes for AHNAK Gene

    5890 amino acids
    Molecular mass:
    629101 Da
    Quaternary structure:
    • Interacts with DYSF; the interaction is direct and Ca(2+)-independent.
    • Sequence=AAA69899.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AHNAK Gene

    Alternative splice isoforms for AHNAK Gene


neXtProt entry for AHNAK Gene

Proteomics data for AHNAK Gene at MOPED

Post-translational modifications for AHNAK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AHNAK Gene

No data available for DME Specific Peptides for AHNAK Gene

Domains for AHNAK Gene

Protein Domains for AHNAK Gene



  • Contains 1 PDZ (DHR) domain.:
    • Q09666
genes like me logo Genes that share domains with AHNAK: view

No data available for Gene Families for AHNAK Gene

Function for AHNAK Gene

Molecular function for AHNAK Gene

GENATLAS Biochemistry: unusually large protein (700kDa),expressed in several cell lineages,repressed in neuroblastoma,with homology with desmosomal plaque protein (desmoyokin) in bovine
UniProtKB/Swiss-Prot Function: May be required for neuronal cell differentiation

Gene Ontology (GO) - Molecular Function for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15607035
GO:0044548 S100 protein binding IPI 14699089
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0097493 structural molecule activity conferring elasticity ISS 21940993
genes like me logo Genes that share ontologies with AHNAK: view
genes like me logo Genes that share phenotypes with AHNAK: view

Animal Models for AHNAK Gene

MGI Knock Outs for AHNAK:

miRNA for AHNAK Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AHNAK Gene

Localization for AHNAK Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHNAK Gene

Subcellular locations from

Jensen Localization Image for AHNAK Gene COMPARTMENTS Subcellular localization image for AHNAK gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 1608957
GO:0005737 cytoplasm IDA 22057634
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol ISS 21940993
GO:0005886 plasma membrane IDA 21940993
genes like me logo Genes that share ontologies with AHNAK: view

Pathways for AHNAK Gene

SuperPathways for AHNAK Gene

No Data Available

Gene Ontology (GO) - Biological Process for AHNAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043484 regulation of RNA splicing ISS 21940993
GO:0051259 protein oligomerization ISS 21940993
GO:1901385 regulation of voltage-gated calcium channel activity IMP 22038483
genes like me logo Genes that share ontologies with AHNAK: view

No data available for Pathways by source for AHNAK Gene

Compounds for AHNAK Gene

(1) Novoseek inferred chemical compound relationships for AHNAK Gene

Compound -log(P) Hits PubMed IDs
calcium 27.6 8
genes like me logo Genes that share compounds with AHNAK: view

Transcripts for AHNAK Gene

Unigene Clusters for AHNAK Gene

AHNAK nucleoprotein:
Representative Sequences:

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

No ASD Table

Relevant External Links for AHNAK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AHNAK Gene

mRNA expression in normal human tissues for AHNAK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AHNAK Gene

SOURCE GeneReport for Unigene cluster for AHNAK Gene Hs.502756

genes like me logo Genes that share expressions with AHNAK: view

Orthologs for AHNAK Gene

This gene was present in the common ancestor of chordates.

Orthologs for AHNAK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AHNAK 36
  • 99.26 (n)
  • 98.76 (a)
  • 99 (a)
(Bos Taurus)
Mammalia AHNAK 36
  • 77.95 (n)
  • 76.24 (a)
  • 85 (a)
(Canis familiaris)
Mammalia AHNAK 36
  • 76.58 (n)
  • 74.32 (a)
  • 83 (a)
(Mus musculus)
Mammalia Ahnak 36
  • 78.53 (n)
  • 76.42 (a)
Ahnak 16
Ahnak 37
  • 83 (a)
(Monodelphis domestica)
Mammalia AHNAK 37
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia AHNAK 37
  • 71 (a)
(Rattus norvegicus)
Mammalia Ahnak 36
  • 80.9 (n)
  • 79.04 (a)
(Gallus gallus)
Aves AHNAK 37
  • 67 (a)
(Anolis carolinensis)
Reptilia AHNAK 37
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ahnak 36
  • 62.33 (n)
  • 54.63 (a)
(Danio rerio)
Actinopterygii ahnak 36
  • 60.3 (n)
  • 51.05 (a)
ahnak 37
  • 39 (a)
Species with no ortholog for AHNAK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 AHNAK Gene

Gene Tree for AHNAK (if available)
Gene Tree for AHNAK (if available)

Paralogs for AHNAK Gene

Paralogs for AHNAK Gene

genes like me logo Genes that share paralogs with AHNAK: view

Variants for AHNAK Gene

Sequence variations from dbSNP and Humsavar for AHNAK Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs4124 -- 62,487,799(-) CTGCT(A/G)TTTCT intron-variant
rs486903 -- 62,526,476(+) GGCAT(A/G)CTGAA reference, synonymous-codon, intron-variant
rs492751 -- 62,483,497(+) cgagg(C/T)gggcg intron-variant
rs499333 -- 62,522,698(+) ATCCA(A/C)GTCAG missense, reference, intron-variant
rs499537 -- 62,522,765(+) TTGGG(A/T)CCTTT reference, synonymous-codon, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832180 CNV Loss 17160897
esv2671635 CNV Deletion 23128226
nsv345 CNV Loss 18451855
nsv897621 CNV Loss 21882294
nsv346 CNV Insertion 18451855
esv2673066 CNV Deletion 23128226
esv2661140 CNV Deletion 23128226
esv2674790 CNV Deletion 23128226
nsv832182 CNV Gain+Loss 17160897
esv2661679 CNV Deletion 23128226
esv2744605 CNV Deletion 23290073
nsv347 CNV Loss 18451855

Relevant External Links for AHNAK Gene

HapMap Linkage Disequilibrium report

Disorders for AHNAK Gene

(1) University of Copenhagen DISEASES for AHNAK Gene

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

No data available for UniProtKB/Swiss-Prot for AHNAK Gene

Publications for AHNAK Gene

  1. A human gene (AHNAK) encoding an unusually large protein with a 1.2- microns polyionic rod structure. (PMID: 1608957) Shtivelman E. … Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  2. A radiation hybrid map of 506 STS markers spanning human chromosome 11. (PMID: 7987395) James M.R. … Vignal A. (Nat. Genet. 1994) 2 3
  3. AHNAK-mediated activation of phospholipase C-gamma1 through protein kinase C. (PMID: 15033986) Lee I.H. … Bae Y.S. (J. Biol. Chem. 2004) 3 23
  4. AHNAK interacts with the DNA ligase IV-XRCC4 complex and stimulates DNA ligase IV-mediated double-stranded ligation. (PMID: 15177040) Stiff T. … Kysela B. (DNA Repair (Amst.) 2004) 3 23
  5. The carboxyl-terminal region of ahnak provides a link between cardiac L-type Ca2+ channels and the actin-based cytoskeleton. (PMID: 12153988) Hohaus A. … Haase H. (FASEB J. 2002) 2 3

Products for AHNAK Gene

Sources for AHNAK Gene

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