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The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
AHNAK (AHNAK Nucleoprotein) is a Protein Coding gene. Diseases associated with AHNAK include Miyoshi Muscular Dystrophy and Neuroblastoma. Among its related pathways are Phospholipase-C Pathway and Salmonella infection (KEGG). Gene Ontology (GO) annotations related to this gene include structural molecule activity conferring elasticity. An important paralog of this gene is AHNAK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IEA,IPI | 15607035 |
GO:0042802 | identical protein binding | IPI | -- |
GO:0044548 | S100 protein binding | IPI | 14699089 |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,NAS | 1608957 |
GO:0005737 | cytoplasm | IBA,IDA | 22057634 |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005829 | cytosol | IEA,ISS | 21940993 |
GO:0005886 | plasma membrane | IDA | 21940993 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Salmonella infection (KEGG) | ||
2 | Phospholipase-C Pathway |
Phospholipase-C Pathway
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0043484 | regulation of RNA splicing | IEA,ISS | 21940993 |
GO:1901385 | regulation of voltage-gated calcium channel activity | IMP | 22038483 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AHNAK 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ahnak 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ahnak 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AHNAK 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AHNAK 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AHNAK 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AHNAK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AHNAK 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AHNAK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ahnak 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ahnak 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111551528 | Benign: not provided | 62,517,320(-) |
C/T NM_001620.3(AHNAK):c.17097G>A (p.Glu5699=) |
SYNONYMOUS_VARIANT,INTRON | |
rs112663036 | Benign: not provided | 62,518,099(-) |
C/T NM_001620.3(AHNAK):c.16318G>A (p.Val5440Met) |
MISSENSE_VARIANT,INTRON | |
rs114078400 | Benign: not provided | 62,529,848(-) |
A/G NM_001620.3(AHNAK):c.4569T>C (p.Phe1523=) |
SYNONYMOUS_VARIANT,INTRON | |
rs114187073 | Benign: not provided | 62,533,241(-) |
C/T NM_001620.3(AHNAK):c.1176G>A (p.Gln392=) |
SYNONYMOUS_VARIANT,INTRON | |
rs114233286 | Benign: not provided | 62,529,938(-) |
A/G NM_001620.3(AHNAK):c.4479T>C (p.Asp1493=) |
SYNONYMOUS_VARIANT,INTRON |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
miyoshi muscular dystrophy |
|
|
neuroblastoma |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2b |
|
|
hirschsprung disease 1 |
|
|