INA internexin neuronal intermediate filament protein alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: INAprovided by HGNC
Official Full Name: internexin neuronal intermediate filament protein alphaprovided by HGNC
Primary source: HGNC:HGNC:6057
See related: Ensembl:ENSG00000148798 MIM:605338; AllianceGenome:HGNC:6057
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: NEF5; NF66; NF-66; TXBP-1
Summary: Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]
Expression: Biased expression in brain (RPKM 37.1) and adrenal (RPKM 7.8) See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (103277138..103290346)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (104165761..104178983)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (105036895..105050103)

Chromosome 10 - NC_000010.11 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 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?

Epigenetic Inactivation of alpha-Internexin Accelerates Microtubule Polymerization in Colorectal Cancer.
Title: Epigenetic Inactivation of α-Internexin Accelerates Microtubule Polymerization in Colorectal Cancer.
reduced/loss of expression of alpha-internexin was closely related to tumors with aggressiveness and patient's adverse prognosis
Title: Loss of expression and prognosis value of alpha-internexin in gastroenteropancreatic neuroendocrine neoplasm.
The proteins UCH-L1 and alpha-internexin could be independent prognostic biomarkers of pancreatic neuroendocrine tumors.
Title: Prognostic relevance of UCH-L1 and α-internexin in pancreatic neuroendocrine tumors.
Data suggest GRINL1A (GCOM1)-NMDA receptor-internexin-alpha (INA) interaction pathway may be relevant to neuroprotection.
Title: The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.
It is a neuronal marker, and has been indicated as an immunohistochemical surrogate of chromosome 1p/19q co-deletion in oligodendroglial tumors.
Title: Coexpression of cyclin D1 and alpha-internexin in oligodendroglial tumors.
Gonadotropinomas, null cell pituitary adenomas, and thyrotropinomas exhibit high levels of intracellular INA protein indicating neuronal transdifferentiation.
Title: Expression pattern of neuronal intermediate filament α-internexin in anterior pituitary gland and related tumors.
It is a supportive diagnostic marker for oligodendroglial tumors with the 1p/19q co-deletion.
Title: Alpha-internexin and altered CIC expression as a supportive diagnostic marker for oligodendroglial tumors with the 1p/19q co-deletion.
alpha-Internexin was expressed in 53% of 350 pancreatic neuroendocrine tumors. Reduced expression of alpha-internexin was significantly associated with advanced stage metastases, recurrence and shorter overall survival.
Title: α-Internexin: a novel biomarker for pancreatic neuroendocrine tumor aggressiveness.
High INA expression is associated with grade II gliomas.
Title: Molecular genetics of adult grade II gliomas: towards a comprehensive tumor classification system.
INA may provide additional biologic information relevant to delineation of both pancreatic neuroendocrine neoplasms (NEN) tumor phenotypes and clinical behavior.
Title: The clinical implications and biologic relevance of neurofilament expression in gastroenteropancreatic neuroendocrine neoplasms.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies susceptibility loci for migraine without aura. 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
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify internexin neuronal intermediate filament protein alpha unit (INA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify internexin neuronal intermediate filament protein alpha unit (INA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify internexin neuronal intermediate filament protein alpha unit (INA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify internexin neuronal intermediate filament protein alpha unit (INA), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	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

D10S1468 (e-PCR)
- UniSTS:55328

D10S1329E (e-PCR)
- UniSTS:26664

SHGC-63470 (e-PCR)
- UniSTS:55132

WI-14107 (e-PCR)
- UniSTS:68977

RH66270 (e-PCR)
- UniSTS:34547

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables structural constituent of postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurofilament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: alpha-internexin

Names: 66 kDa neurofilament protein; alpha-Inx; neurofilament 5 (66kD); neurofilament-66, tax-binding protein

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_012318.1 RefSeqGene

Range

4976..18184

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032727.4 → NP_116116.1 alpha-internexin

See identical proteins and their annotated locations for NP_116116.1

Status: REVIEWED

Source sequence(s)

AL591408, BC006359

Consensus CDS

CCDS7545.1

UniProtKB/Swiss-Prot

B1AQK0, Q16352, Q9BRC5

Related

ENSP00000358865.4, ENST00000369849.9

Conserved Domains (2) summary

pfam00038
Location:93 → 406

Filament; Intermediate filament protein

pfam04732
Location:10 → 92

Filament_head; Intermediate filament head (DNA binding) region