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Aliases for AHNAK Gene

Aliases for AHNAK Gene

  • AHNAK Nucleoprotein 2 3
  • Desmoyokin 2 3 4
  • 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. 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

Epigenetics Products

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

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

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

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

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

Antibody Products

No data available for DME Specific Peptides for AHNAK Gene

Domains & 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

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:

Animal Model Products

miRNA for AHNAK Gene

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 4
endosome 1

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 & Interactions for AHNAK Gene

SuperPathways for AHNAK Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 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
Calcium Nutra 0
genes like me logo Genes that share compounds with AHNAK: view

Transcripts for AHNAK Gene

Unigene Clusters for AHNAK Gene

AHNAK nucleoprotein:
Representative Sequences:

Inhibitory RNA Products

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

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, PaxDb, MOPED, and MaxQB for AHNAK Gene



SOURCE GeneReport for Unigene cluster for AHNAK Gene Hs.502756

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

Protein tissue co-expression partners for AHNAK Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 77.95 (n)
  • 76.24 (a)
AHNAK 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHNAK 35
  • 76.58 (n)
  • 74.32 (a)
AHNAK 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ahnak 35
  • 78.53 (n)
  • 76.42 (a)
Ahnak 16
Ahnak 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AHNAK 35
  • 99.26 (n)
  • 98.76 (a)
AHNAK 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ahnak 35
  • 80.9 (n)
  • 79.04 (a)
oppossum
(Monodelphis domestica)
Mammalia AHNAK 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHNAK 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHNAK 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHNAK 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahnak 35
  • 62.33 (n)
  • 54.63 (a)
zebrafish
(Danio rerio)
Actinopterygii ahnak 35
  • 60.3 (n)
  • 51.05 (a)
ahnak 36
  • 39 (a)
OneToMany
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

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 MAF
rs11231133 -- 62,540,204(+) CCCAA(C/T)GCAGC intron-variant
rs11231134 -- 62,542,000(+) TTTTA(C/T)AAACC intron-variant
rs11231135 -- 62,543,261(+) CCTTA(A/C)CTACA intron-variant
rs11231137 -- 62,548,227(+) GCCTC(A/G)CCACA upstream-variant-2KB
rs11231138 -- 62,548,723(+) ACAGT(C/G)CCTCT upstream-variant-2KB

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

Variation tolerance for AHNAK Gene

Residual Variation Intolerance Score: 97.22% 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

HapMap Linkage Disequilibrium report
AHNAK

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

Disorders for AHNAK Gene

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 MalaCards , UniProtKB/Swiss-Prot and Genatlas for AHNAK Gene

Publications for AHNAK Gene

  1. Pseudopodial actin dynamics control epithelial-mesenchymal transition in metastatic cancer cells. (PMID: 20388789) Shankar J. … Nabi I.R. (Cancer Res. 2010) 23 67
  2. Biological activities and molecular interactions of the C-terminal residue of thrombospondin-4, an epitome of acidic amphipathic peptides. (PMID: 20006665) Congote L.F. … Kriazhev L. (Peptides 2010) 23 67
  3. Requirement for AHNAK1-mediated calcium signaling during T lymphocyte cytolysis. (PMID: 19497879) Matza D. … Flavell R.A. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67
  4. Evidence that CT694 is a novel Chlamydia trachomatis T3S substrate capable of functioning during invasion or early cycle development. (PMID: 19460098) Hower S. … Fields K.A. (Mol. Microbiol. 2009) 23 67
  5. The C type natriuretic peptide receptor tethers AHNAK1 at the plasma membrane to potentiate arachidonic acid-induced calcium mobilization. (PMID: 19710363) Alli A.A. … Gower W.R. (Am. J. Physiol., Cell Physiol. 2009) 23 67

Products for AHNAK Gene

Sources for AHNAK Gene

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