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AHNAK AHNAK nucleoprotein [ Homo sapiens (human) ]

Gene ID: 79026, updated on 8-Aug-2021

Summary

Official Symbol
AHNAKprovided by HGNC
Official Full Name
AHNAK nucleoproteinprovided by HGNC
Primary source
HGNC:HGNC:347
See related
Ensembl:ENSG00000124942 MIM:103390
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PM227; AHNAKRS
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]
Expression
Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues See more
Orthologs
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Genomic context

See AHNAK in Genome Data Viewer
Location:
11q12.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (62433544..62546806, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62201016..62314278, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene asparaginase and isoaspartyl peptidase 1 Neighboring gene uncharacterized LOC107984335 Neighboring gene uncharacterized LOC102723765 Neighboring gene secretoglobin family 1A member 1 Neighboring gene eukaryotic translation elongation factor 1 gamma Neighboring gene microRNA 6747 Neighboring gene terminal uridylyl transferase 1, U6 snRNA-specific

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated neuroblast differentiation-associated protein AHNAK is incorporated into HIV-1 Gag virus-like particles PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5395

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables S100 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity conferring elasticity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in regulation of RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of RNA splicing ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in T-tubule NAS
Non-traceable Author Statement
more info
PubMed 
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell-cell contact zone IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in costamere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in costamere ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion HDA PubMed 
located_in lysosomal membrane HDA PubMed 
located_in membrane HDA PubMed 
colocalizes_with membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma NAS
Non-traceable Author Statement
more info
PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neuroblast differentiation-associated protein AHNAK
Names
AHNAK-related
desmoyokin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051822.1 RefSeqGene

    Range
    5055..35959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346445.2NP_001333374.1  neuroblast differentiation-associated protein AHNAK isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
    Source sequence(s)
    AP001363, BP358907
    Consensus CDS
    CCDS31584.1
    UniProtKB/Swiss-Prot
    Q09666
  2. NM_001346446.2NP_001333375.1  neuroblast differentiation-associated protein AHNAK isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
    Source sequence(s)
    AP001363, BP359022
    Consensus CDS
    CCDS31584.1
    UniProtKB/Swiss-Prot
    Q09666
  3. NM_001620.3NP_001611.1  neuroblast differentiation-associated protein AHNAK isoform 1

    See identical proteins and their annotated locations for NP_001611.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as L-AHNAK) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK300376, AP001363, BE873999
    Consensus CDS
    CCDS31584.1
    UniProtKB/Swiss-Prot
    Q09666
    UniProtKB/TrEMBL
    B4DTV0
    Related
    ENSP00000367263.4, ENST00000378024.9
    Conserved Domains (2) summary
    COG2911
    Location:47265622
    TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
    cl00117
    Location:2290
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
  4. NM_024060.4NP_076965.2  neuroblast differentiation-associated protein AHNAK isoform 2

    See identical proteins and their annotated locations for NP_076965.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as S-AHNAK) uses alternate 3' exons, compared to variant 1, resulting in a shorter isoform (2) with a unique C-terminus compared to isoform 1.
    Source sequence(s)
    BC000926, BC128460, CN482151
    Consensus CDS
    CCDS44625.1
    UniProtKB/Swiss-Prot
    Q09666
    UniProtKB/TrEMBL
    Q9BVU3
    Related
    ENSP00000257247.7, ENST00000257247.11
    Conserved Domains (1) summary
    cl00117
    Location:2290
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    62433544..62546806 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018270.1XP_016873759.1  neuroblast differentiation-associated protein AHNAK isoform X1

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