2. Gene
  3. AHNAK - AHNAK nucleoprotein Gene

AHNAK - AHNAK nucleoprotein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

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