AHNAK - AHNAK nucleoprotein Gene

Homo sapiens

Also known as PM227; AHNAK1; AHNAKRS

Gene ID: 79026 | Gene type: protein coding

About AHNAK

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,433,544-62,546,806 (from NCBI)

This gene has 8 transcripts (splice variants), 169 orthologues and 2 paralogues. Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues.

Summary

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 Products(4)

mRNA	Protein	Name
NM_001346445.2	NP_001333374.1	neuroblast differentiation-associated protein AHNAK isoform 1
NM_001346446.2	NP_001333375.1	neuroblast differentiation-associated protein AHNAK isoform 1
NM_001620.3	NP_001611.1	neuroblast differentiation-associated protein AHNAK isoform 1
NM_024060.4	NP_076965.2	neuroblast differentiation-associated protein AHNAK isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables S100 protein binding	IPI IPI: Inferred from physical interaction	14699089	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21940993	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15607035	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	22038483	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	21940993	GOA
located in cell-cell contact zone	IDA IDA: Inferred from direct assay	21940993	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22057634	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	22057634	GOA
colocalizes with membrane raft	IDA IDA: Inferred from direct assay	14699089	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	3126079	GOA
part of plasma membrane protein complex	IPI IPI: Inferred from physical interaction	23275167	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	22057634	GOA
located in vesicle	IDA IDA: Inferred from direct assay	21940993	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

neuroblast differentiation-associated protein AHNAK

AHNAK-related

AHNAK Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	AHNAK	Q09666	EGFR	Homo sapiens	P00533	Ub Reconstruction	20029029
Intra	AHNAK	Q09666	S100A10	Homo sapiens	P60903	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Megacolon

Dilatation Of Colon

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b	Lgmd3
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency	Limb-Girdle Muscular Dystrophy Type 3
Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00481	AHNAK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00482	AHNAK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AHNAK	VGNC	VGNC:99540
Rattus norvegicus	AHNAK	RGD	RGD:619779
Mus musculus	AHNAK	MGD	MGI:1316648
Bos taurus	AHNAK	VGNC	VGNC:25754
Canis familiaris	AHNAK	VGNC	VGNC:37728

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