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Aliases for AHNAK Gene

Aliases for AHNAK Gene

  • AHNAK Nucleoprotein 2 3 5
  • Desmoyokin 2 3 4
  • Neuroblast Differentiation-Associated Protein AHNAK 3
  • AHNAK Nucleoprotein (Desmoyokin) 2
  • AHNAK-Related 3
  • AHNAKRS 3
  • PM227 4

External Ids for AHNAK Gene

Previous GeneCards Identifiers for AHNAK Gene

  • GC11U990003
  • GC11M063859
  • GC11M062535
  • GC11M062059
  • GC11M062040
  • GC11M062202
  • GC11M058529

Summaries for AHNAK Gene

GeneCards Summary for AHNAK Gene

AHNAK (AHNAK Nucleoprotein) is a Protein Coding gene. Diseases associated with AHNAK include Skeletal Muscle Regeneration. GO annotations related to this gene include poly(A) RNA binding and structural molecule activity conferring elasticity. 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

Regulatory Elements for AHNAK Gene

Enhancers for AHNAK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around AHNAK on UCSC Golden Path with GeneCards custom track

Genomic Location for AHNAK Gene

Chromosome:
11
Start:
62,433,542 bp from pter
End:
62,556,235 bp from pter
Size:
122,694 bases
Orientation:
Minus strand

Genomic View for AHNAK Gene

Genes around AHNAK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AHNAK Gene

Proteins for AHNAK Gene

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

    Protein Symbol:
    Q09666-AHNK_HUMAN
    Recommended name:
    Neuroblast differentiation-associated protein AHNAK
    Protein Accession:
    Q09666
    Secondary Accessions:
    • A1A586

    Protein attributes for AHNAK Gene

    Size:
    5890 amino acids
    Molecular mass:
    629101 Da
    Quaternary structure:
    • Interacts with DYSF; the interaction is direct and Ca(2+)-independent.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for AHNAK Gene

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 & Families for AHNAK Gene

Gene Families for AHNAK Gene

Protein Domains for AHNAK Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q09666

UniProtKB/Swiss-Prot:

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

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 IEA,ISS 21940993
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
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:

Animal Model Products

CRISPR Products

miRNA for AHNAK Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AHNAK Gene

Localization for AHNAK Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHNAK Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AHNAK Gene COMPARTMENTS Subcellular localization image for AHNAK gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5

Gene Ontology (GO) - Cellular Components for AHNAK Gene

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

Pathways & Interactions 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 IEA,ISS 21940993
GO:0051259 protein oligomerization IEA,ISS 21940993
GO:0098609 cell-cell adhesion IEA --
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 and SIGNOR curated interactions for AHNAK Gene

Drugs & Compounds for AHNAK Gene

(1) Drugs for AHNAK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AHNAK: view

Transcripts for AHNAK Gene

Unigene Clusters for AHNAK Gene

AHNAK nucleoprotein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for AHNAK Gene

GeneLoc Exon Structure for
AHNAK
ECgene alternative splicing isoforms for
AHNAK

Expression for AHNAK Gene

mRNA expression in normal human tissues for AHNAK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AHNAK Gene

This gene is overexpressed in Bone marrow stromal cell (13.9).

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



Protein tissue co-expression partners for AHNAK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AHNAK Gene:

AHNAK

SOURCE GeneReport for Unigene cluster for AHNAK Gene:

Hs.502756
genes like me logo Genes that share expression patterns with AHNAK: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AHNAK Gene

Orthologs for AHNAK Gene

This gene was present in the common ancestor of chordates.

Orthologs for AHNAK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AHNAK 34
  • 77.95 (n)
  • 76.24 (a)
AHNAK 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHNAK 34
  • 76.58 (n)
  • 74.32 (a)
AHNAK 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahnak 34
  • 78.53 (n)
  • 76.42 (a)
Ahnak 16
Ahnak 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AHNAK 34
  • 99.26 (n)
  • 98.76 (a)
AHNAK 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahnak 34
  • 80.9 (n)
  • 79.04 (a)
oppossum
(Monodelphis domestica)
Mammalia AHNAK 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHNAK 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHNAK 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHNAK 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahnak 34
  • 62.33 (n)
  • 54.63 (a)
zebrafish
(Danio rerio)
Actinopterygii ahnak 34
  • 60.3 (n)
  • 51.05 (a)
ahnak 35
  • 39 (a)
OneToMany
Species where no ortholog for AHNAK was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for AHNAK (if available)
TreeFam:
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
rs664761 - 62,531,532(-) ATTCT(A/C/G/T)CCTTT intron-variant, reference, missense
rs1298288 - 62,528,077(+) GGGGG(C/T)CTTGA intron-variant, reference, missense
rs11824660 - 62,527,101(+) ACTTA(A/G)GGCCT intron-variant, reference, missense
rs566144 - 62,525,410(+) CACTT(G/T)GGGAC intron-variant, reference, missense
rs11231129 - 62,524,849(+) TGGAA(C/T)ATCAA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv203e214 CNV gain 21293372
esv2661140 CNV deletion 23128226
esv2661679 CNV deletion 23128226
esv2671635 CNV deletion 23128226
esv2673066 CNV deletion 23128226
esv2674790 CNV deletion 23128226
esv2744605 CNV deletion 23290073
esv3448450 CNV insertion 20981092
esv3547881 CNV deletion 23714750
esv3584599 CNV gain 24956385
esv3626607 CNV loss 21293372
esv3626608 CNV loss 21293372
esv3626609 CNV loss 21293372
nsv1119884 CNV deletion 24896259
nsv345 CNV deletion 18451855
nsv346 CNV insertion 18451855
nsv347 CNV deletion 18451855
nsv832180 CNV loss 17160897
nsv832182 CNV gain+loss 17160897

Variation tolerance for AHNAK Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.74; 96.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHNAK Gene

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

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

Disorders for AHNAK Gene

MalaCards: The human disease database

(1) MalaCards diseases for AHNAK Gene - From: GeneCards

Disorder Aliases PubMed IDs
skeletal muscle regeneration
  • hereditary inclusion body myopathy
- elite association - COSMIC cancer census association via MalaCards
Search AHNAK in MalaCards View complete list of genes associated with diseases

Relevant External Links for AHNAK

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHNAK
genes like me logo Genes that share disorders with AHNAK: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 65
  2. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (PMID: 18334579) Huang Y. … van der Maarel S.M. (Hum. Mol. Genet. 2008) 3 22 65
  3. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. (PMID: 17185750) Huang Y. … van der Maarel S.M. (FASEB J. 2007) 3 4 65
  4. AHNAK-mediated activation of phospholipase C-gamma1 through protein kinase C. (PMID: 15033986) Lee I.H. … Bae Y.S. (J. Biol. Chem. 2004) 3 22 65
  5. 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 22 65

Products for AHNAK Gene

Sources for AHNAK Gene

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