AHNAK AHNAK nucleoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: AHNAKprovided by HGNC
Official Full Name: AHNAK nucleoproteinprovided by HGNC
Primary source: HGNC:HGNC:347
See related: Ensembl:ENSG00000124942 MIM:103390; AllianceGenome:HGNC:347
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; AHNAK1; 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: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62433544..62546806, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62422994..62537374, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62201016..62314278, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of AHNAK expression associated with the pathogenesis of chronic obstructive pulmonary disease by bioinformatic analysis.
Title: Identification of AHNAK expression associated with the pathogenesis of chronic obstructive pulmonary disease by bioinformatic analysis.
Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy.
Title: Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy.
AHNAK suppresses ovarian cancer progression through the Wnt/beta-catenin signaling pathway.
Title: AHNAK suppresses ovarian cancer progression through the Wnt/β-catenin signaling pathway.
Downregulation of Circ_0088196 Contributes to the Development of Trophoblastic Cells through miR-133b Sponging Function to Affect the AHNAK Expression.
Title: Downregulation of Circ_0088196 Contributes to the Development of Trophoblastic Cells through miR-133b Sponging Function to Affect the AHNAK Expression.
CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.
Title: CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.
Identification of distinct genomic features reveals frequent somatic AHNAK and PTEN mutations predominantly in primary malignant melanoma presenting in the ureter.
Title: Identification of distinct genomic features reveals frequent somatic AHNAK and PTEN mutations predominantly in primary malignant melanoma presenting in the ureter.
Annexin A2 and Ahnak control cortical NuMA-dynein localization and mitotic spindle orientation.
Title: Annexin A2 and Ahnak control cortical NuMA-dynein localization and mitotic spindle orientation.
Interaction between TMEFF1 and AHNAK proteins in ovarian cancer cells: Implications for clinical prognosis.
Title: Interaction between TMEFF1 and AHNAK proteins in ovarian cancer cells: Implications for clinical prognosis.
Identification of pannexin 1-regulated genes, interactome, and pathways in rhabdomyosarcoma and its tumor inhibitory interaction with AHNAK.
Title: Identification of pannexin 1-regulated genes, interactome, and pathways in rhabdomyosarcoma and its tumor inhibitory interaction with AHNAK.
Peptide Derived from AHNAK Inhibits Cell Migration and Proliferation in Hirschsprung's Disease by Targeting the ERK1/2 Pathway.
Title: Peptide Derived from AHNAK Inhibits Cell Migration and Proliferation in Hirschsprung's Disease by Targeting the ERK1/2 Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-15247 (e-PCR)
- UniSTS:18235

D11S2237E (e-PCR)
- UniSTS:151405

AHNAK (e-PCR)
- UniSTS:71820

RH66240 (e-PCR)
- UniSTS:48831

Myf5 (e-PCR), detects polymorphism
- UniSTS:507078

RH17740 (e-PCR)
- UniSTS:21979

RH46547 (e-PCR)
- UniSTS:21222

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables S100 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	HDA more info	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 positive regulation of plasma membrane repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
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
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
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 more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	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
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
part_of plasma membrane protein complex	IPI Inferred from Physical Interaction 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

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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

NG_051822.1 RefSeqGene

Range

5055..35959

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346445.2 → NP_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

A1A586, Q09666

Conserved Domains (2) summary

COG2911
Location:4726 → 5622

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

cl00117
Location:22 → 90

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. ...
NM_001346446.2 → NP_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

A1A586, Q09666

Conserved Domains (2) summary

COG2911
Location:4726 → 5622

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

cl00117
Location:22 → 90

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. ...
NM_001620.3 → NP_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

A1A586, Q09666

Related

ENSP00000367263.4, ENST00000378024.9

Conserved Domains (2) summary

COG2911
Location:4726 → 5622

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

cl00117
Location:22 → 90

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. ...
NM_024060.4 → NP_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/TrEMBL

Q9BVU3

Related

ENSP00000257247.7, ENST00000257247.11

Conserved Domains (1) summary

cl00117
Location:22 → 90

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62433544..62546806 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018270.2 → XP_016873759.1 neuroblast differentiation-associated protein AHNAK isoform X2
XM_047427577.1 → XP_047283533.1 neuroblast differentiation-associated protein AHNAK isoform X1

UniProtKB/Swiss-Prot

A1A586, Q09666
XM_047427575.1 → XP_047283531.1 neuroblast differentiation-associated protein AHNAK isoform X1

UniProtKB/Swiss-Prot

A1A586, Q09666
XM_047427576.1 → XP_047283532.1 neuroblast differentiation-associated protein AHNAK isoform X1

UniProtKB/Swiss-Prot

A1A586, Q09666
XM_047427574.1 → XP_047283530.1 neuroblast differentiation-associated protein AHNAK isoform X1

UniProtKB/Swiss-Prot

A1A586, Q09666
XM_047427573.1 → XP_047283529.1 neuroblast differentiation-associated protein AHNAK isoform X1

UniProtKB/Swiss-Prot

A1A586, Q09666

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

62422994..62537374 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369920.1 → XP_054225895.1 neuroblast differentiation-associated protein AHNAK isoform X3
XM_054369919.1 → XP_054225894.1 neuroblast differentiation-associated protein AHNAK isoform X3
XM_054369918.1 → XP_054225893.1 neuroblast differentiation-associated protein AHNAK isoform X2
XM_054369911.1 → XP_054225886.1 neuroblast differentiation-associated protein AHNAK isoform X1
XM_054369917.1 → XP_054225892.1 neuroblast differentiation-associated protein AHNAK isoform X1
XM_054369915.1 → XP_054225890.1 neuroblast differentiation-associated protein AHNAK isoform X1
XM_054369913.1 → XP_054225888.1 neuroblast differentiation-associated protein AHNAK isoform X1
XM_054369916.1 → XP_054225891.1 neuroblast differentiation-associated protein AHNAK isoform X1
XM_054369914.1 → XP_054225889.1 neuroblast differentiation-associated protein AHNAK isoform X1
XM_054369912.1 → XP_054225887.1 neuroblast differentiation-associated protein AHNAK isoform X1