HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HNRNPA1provided by HGNC
Official Full Name: heterogeneous nuclear ribonucleoprotein A1provided by HGNC
Primary source: HGNC:HGNC:5031
See related: Ensembl:ENSG00000135486 MIM:164017; AllianceGenome:HGNC:5031
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: MPD3; UP 1; ALS19; ALS20; HNRPA1; IBMPFD3; HNRPA1L3; hnRNP A1; hnRNP-A1
Summary: This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]
Expression: Ubiquitous expression in ovary (RPKM 647.6), bone marrow (RPKM 364.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54280726..54287087)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (54247303..54253664)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (54674510..54680871)

Chromosome 12 - NC_000012.12 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?

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Title: Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Downregulation of HNRNPA1 induced neoantigen generation via regulating alternative splicing.
Title: Downregulation of HNRNPA1 induced neoantigen generation via regulating alternative splicing.
circLIFR-007 reduces liver metastasis via promoting hnRNPA1 nuclear export and YAP phosphorylation in breast cancer.
Title: circLIFR-007 reduces liver metastasis via promoting hnRNPA1 nuclear export and YAP phosphorylation in breast cancer.
A mutation in the low-complexity domain of splicing factor hnRNPA1 linked to amyotrophic lateral sclerosis disrupts distinct neuronal RNA splicing networks.
Title: A mutation in the low-complexity domain of splicing factor hnRNPA1 linked to amyotrophic lateral sclerosis disrupts distinct neuronal RNA splicing networks.
MAGOH promotes gastric cancer progression via hnRNPA1 expression inhibition-mediated RONDelta160/PI3K/AKT signaling pathway activation.
Title: MAGOH promotes gastric cancer progression via hnRNPA1 expression inhibition-mediated RONΔ160/PI3K/AKT signaling pathway activation.
hnRNP A1 dysfunction alters RNA splicing and drives neurodegeneration in multiple sclerosis (MS).
Title: hnRNP A1 dysfunction alters RNA splicing and drives neurodegeneration in multiple sclerosis (MS).
N6-methyladenosine modification of OIP5-AS1 promotes glycolysis, tumorigenesis, and metastasis of gastric cancer by inhibiting Trim21-mediated hnRNPA1 ubiquitination and degradation.
Title: N6-methyladenosine modification of OIP5-AS1 promotes glycolysis, tumorigenesis, and metastasis of gastric cancer by inhibiting Trim21-mediated hnRNPA1 ubiquitination and degradation.
The mechanism of UP1 binding and unfolding of human telomeric DNA G-quadruplex.
Title: The mechanism of UP1 binding and unfolding of human telomeric DNA G-quadruplex.
HnRNP A1 Suppresses the Odontogenic Differentiation and the Inclusion of RUNX2 Exon 5 of Dental Mesenchymal Cells.
Title: HnRNP A1 Suppresses the Odontogenic Differentiation and the Inclusion of RUNX2 Exon 5 of Dental Mesenchymal Cells.
A comprehensive understanding of hnRNP A1 role in cancer: new perspectives on binding with noncoding RNA.
Title: A comprehensive understanding of hnRNP A1 role in cancer: new perspectives on binding with noncoding RNA.

Submit: New GeneRIF Correction See all GeneRIFs (183)

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

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 20 MedGen: C3715156 OMIM: 615426 GeneReviews: Amyotrophic Lateral Sclerosis Overview	not available
Finnish upper limb-onset distal myopathy MedGen: C1864706 OMIM: 610099 GeneReviews: Not available	not available
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MedGen: C3809469 OMIM: 615424 GeneReviews: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia	not available
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MedGen: C1833662 GeneReviews: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia	not available

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 heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	env	Depletion of hnRNP A1 and A2 increase expression of viral structural proteins Gag, Env, and gp120	PubMed
Envelope surface glycoprotein gp160, precursor	env	Depletion of hnRNP A1 and A2 increase expression of viral structural proteins Gag, Env, and gp120	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), 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 heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), 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 heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	gag	Depletion of hnRNP A1 and A2 increase expression of viral structural proteins Gag, Env, and gp120	PubMed
Rev	rev	HIV-1 Rev interacting protein, heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with HNRNPA1 is increased by RRE	PubMed
	rev	HIV-1 Rev interacts with the heterogeneous nuclear ribonucleoproteins (hnRNP) A1. The amino acids 9-14 in Rev and the arginine residues within the RGG box (amino acids 191-238) of hnRNP A1 are required for the interaction between Rev and hnRNP A1	PubMed
	rev	hnRNP A1 modulates Rev expression by controlling HIV-1 mRNA splicing	PubMed
	rev	hnRNP A1 binds to cis-acting repressive (CRS) sequences in HIV-1 RNA suggesting a role for this binding in influencing Rev function	PubMed
	rev	hnRNP A1 binds to an instability (INS) element in the p17gag gene of HIV-1 RNA causing synergistic stimulation of Rev-dependent nuclear export of unspliced HIV-1 mRNA	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1) at amino acid residues 181-182 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486965

D12S1994 (e-PCR)
- UniSTS:59498

NoName (e-PCR)
- UniSTS:490122

SHGC-2501 (e-PCR)
- UniSTS:90083

PMC137566P1 (e-PCR)
- UniSTS:270842

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	EXP Inferred from Experiment more info	PubMed
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables pre-mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded RNA binding	IC Inferred by Curator more info	PubMed
enables telomeric repeat-containing RNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IC Inferred by Curator more info	PubMed
involved_in cellular response to glucose starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to sodium arsenite	IDA Inferred from Direct Assay more info	PubMed
involved_in import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear export	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: heterogeneous nuclear ribonucleoprotein A1

Names: epididymis secretory sperm binding protein; helix-destabilizing protein; heterogeneous nuclear ribonucleoprotein A1B protein; heterogeneous nuclear ribonucleoprotein B2 protein; heterogeneous nuclear ribonucleoprotein core protein A1; hnRNP core protein A1-like 3; nuclear ribonucleoprotein particle A1 protein; putative heterogeneous nuclear ribonucleoprotein A1-like 3; single-strand DNA-binding protein UP1; single-strand RNA-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_033830.1 RefSeqGene

Range

5023..11384

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002136.4 → NP_002127.1 heterogeneous nuclear ribonucleoprotein A1 isoform a

See identical proteins and their annotated locations for NP_002127.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as A1) encodes isoform a.

Source sequence(s)

AC078778, BC052296, CD705336

Consensus CDS

CCDS41793.1

UniProtKB/TrEMBL

A0A024RB53, Q6IPF2

Related

ENSP00000448617.1, ENST00000546500.5

Conserved Domains (3) summary

pfam11627
Location:255 → 292

HnRNPA1; Nuclear factor hnRNPA1

cd12582
Location:105 → 184

RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

cd12761
Location:12 → 92

RRM1_hnRNPA1; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) and similar proteins
NM_031157.4 → NP_112420.1 heterogeneous nuclear ribonucleoprotein A1 isoform b

See identical proteins and their annotated locations for NP_112420.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as A1B) contains an alternate in-frame exon compared to variant 1, resulting in a longer protein (isoform b) than isoform 1.

Source sequence(s)

AC078778, BC052296, BC070315, BU541100, CD705336

Consensus CDS

CCDS44909.1

UniProtKB/Swiss-Prot

A8K4Z8, P09651, Q3MIB7, Q6PJZ7

UniProtKB/TrEMBL

Q6IPF2

Related

ENSP00000341826.7, ENST00000340913.11

Conserved Domains (3) summary

pfam11627
Location:307 → 344

HnRNPA1; Nuclear factor hnRNPA1

cd12582
Location:105 → 184

RRM2_hnRNPA3; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein A3 (hnRNP A3) and similar proteins

cd12761
Location:12 → 92

RRM1_hnRNPA1; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) and similar proteins

RNA

NR_135167.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon and contains two alternate 3' terminal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC070315, CD705336