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 ... See more...

Aliases for HNRNPA1 Gene

Aliases for HNRNPA1 Gene

  • Heterogeneous Nuclear Ribonucleoprotein A1 2 3 4 5
  • Single-Strand RNA-Binding Protein 3 4
  • Helix-Destabilizing Protein 3 4
  • HnRNP A1 3 4
  • HNRPA1 3 4
  • Putative Heterogeneous Nuclear Ribonucleoprotein A1-Like 3 3
  • Heterogeneous Nuclear Ribonucleoprotein Core Protein A1 3
  • Heterogeneous Nuclear Ribonucleoprotein A1B Protein 3
  • Heterogeneous Nuclear Ribonucleoprotein B2 Protein 3
  • Nuclear Ribonucleoprotein Particle A1 Protein 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Single-Strand DNA-Binding Protein UP1 3
  • HnRNP Core Protein A1-Like 3 3
  • HnRNP Core Protein A1 4
  • HNRPA1L3 3
  • HnRNP-A1 3
  • IBMPFD3 3
  • ALS19 3
  • ALS20 3
  • UP 1 3

External Ids for HNRNPA1 Gene

Previous HGNC Symbols for HNRNPA1 Gene

  • HNRPA1

Previous GeneCards Identifiers for HNRNPA1 Gene

  • GC12P052961
  • GC12P054674
  • GC12P051713

Summaries for HNRNPA1 Gene

Entrez Gene Summary for HNRNPA1 Gene

  • 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]

GeneCards Summary for HNRNPA1 Gene

HNRNPA1 (Heterogeneous Nuclear Ribonucleoprotein A1) is a Protein Coding gene. Diseases associated with HNRNPA1 include Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 and Amyotrophic Lateral Sclerosis 20. Among its related pathways are Telomere Extension by Telomerase and Signaling by FGFR2. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPA1L2.

UniProtKB/Swiss-Prot Summary for HNRNPA1 Gene

  • Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection (PubMed:17371836). May bind to specific miRNA hairpins (PubMed:28431233).
  • (Microbial infection) May play a role in HCV RNA replication.

Gene Wiki entry for HNRNPA1 Gene

Additional gene information for HNRNPA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HNRNPA1 Gene

Genomics for HNRNPA1 Gene

GeneHancer (GH) Regulatory Elements for HNRNPA1 Gene

Promoters and enhancers for HNRNPA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HNRNPA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HNRNPA1 gene promoter:
  • AML1a
  • C/EBPalpha
  • E2F-2

Genomic Locations for HNRNPA1 Gene

Genomic Locations for HNRNPA1 Gene
chr12:54,280,193-54,287,088
(GRCh38/hg38)
Size:
6,896 bases
Orientation:
Plus strand
chr12:54,673,977-54,680,872
(GRCh37/hg19)
Size:
6,896 bases
Orientation:
Plus strand

Genomic View for HNRNPA1 Gene

Genes around HNRNPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNRNPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPA1 Gene

Proteins for HNRNPA1 Gene

  • Protein details for HNRNPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09651-ROA1_HUMAN
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein A1
    Protein Accession:
    P09651
    Secondary Accessions:
    • A8K4Z8
    • Q3MIB7
    • Q6PJZ7

    Protein attributes for HNRNPA1 Gene

    Size:
    372 amino acids
    Molecular mass:
    38747 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (PubMed:17289661). Interacts with SEPT6 (PubMed:17229681). Interacts with C9orf72 (PubMed:24549040). Interacts with KHDRBS1 (PubMed:17371836). Interacts with UBQLN2 (PubMed:25616961).
    • (Microbial infection) Interacts with HCV NS5B and with the 5'-UTR and 3'-UTR of HCV RNA.

    Three dimensional structures from OCA and Proteopedia for HNRNPA1 Gene

    Alternative splice isoforms for HNRNPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HNRNPA1 Gene

Post-translational modifications for HNRNPA1 Gene

  • Arg-194, Arg-206 and Arg-225 are dimethylated, probably to asymmetric dimethylarginine.
  • Sumoylated.
  • Ubiquitination at Lys3, Lys8, Lys78, and Lys350
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HNRNPA1 Gene

Domains & Families for HNRNPA1 Gene

Gene Families for HNRNPA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HNRNPA1 Gene

GenScript: Design optimal peptide antigens:
  • Heterogeneous nuclear ribonucleoprotein A1 (Q0VAC0_HUMAN)
  • HNRPA1 protein (Q3MI39_HUMAN)
  • Heterogeneous nuclear ribonucleoprotein A1 (Q6IPF2_HUMAN)
  • hnRNP core protein A1 (ROA1_HUMAN)
genes like me logo Genes that share domains with HNRNPA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HNRNPA1 Gene

Function for HNRNPA1 Gene

Molecular function for HNRNPA1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection (PubMed:17371836). May bind to specific miRNA hairpins (PubMed:28431233).
UniProtKB/Swiss-Prot Function:
(Microbial infection) May play a role in HCV RNA replication.

Phenotypes From GWAS Catalog for HNRNPA1 Gene

Gene Ontology (GO) - Molecular Function for HNRNPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003697 single-stranded DNA binding IDA 8521471
GO:0003723 RNA binding IBA,IEA 21873635
GO:0003727 single-stranded RNA binding IC 8521471
GO:0003729 mRNA binding IBA 21873635
genes like me logo Genes that share ontologies with HNRNPA1: view
genes like me logo Genes that share phenotypes with HNRNPA1: view

Human Phenotype Ontology for HNRNPA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for HNRNPA1 Gene

miRTarBase miRNAs that target HNRNPA1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HNRNPA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPA1 Gene

Localization for HNRNPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPA1 Gene

Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles continuously between the nucleus and the cytoplasm along with mRNA. Component of ribonucleosomes (PubMed:17289661). {ECO:0000269 PubMed:17289661, ECO:0000269 PubMed:27694260}.
Cytoplasm. Note=(Microbial infection) In the course of viral infection, colocalizes with HCV NS5B at speckles in the cytoplasm in a HCV-replication dependent manner. {ECO:0000269 PubMed:17229681}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNRNPA1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HNRNPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 23935072
GO:0005654 nucleoplasm IDA,TAS --
GO:0005681 spliceosomal complex IDA 9731529
GO:0005737 cytoplasm IDA 8521471
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with HNRNPA1: view

Pathways & Interactions for HNRNPA1 Gene

genes like me logo Genes that share pathways with HNRNPA1: view

Pathways by source for HNRNPA1 Gene

1 Qiagen pathway for HNRNPA1 Gene
  • Telomere Extension by Telomerase
1 Cell Signaling Technology pathway for HNRNPA1 Gene

SIGNOR curated interactions for HNRNPA1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for HNRNPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IMP 25689357
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0006405 RNA export from nucleus IC 8521471
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with HNRNPA1: view

Drugs & Compounds for HNRNPA1 Gene

(1) Drugs for HNRNPA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HNRNPA1: view

Transcripts for HNRNPA1 Gene

mRNA/cDNA for HNRNPA1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HNRNPA1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPA1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13
SP1:
SP2:
SP3:
SP4: - - -
SP5:
SP6: -
SP7: - - - - - - - -
SP8:
SP9: - -

Relevant External Links for HNRNPA1 Gene

GeneLoc Exon Structure for
HNRNPA1
ECgene alternative splicing isoforms for
HNRNPA1

Expression for HNRNPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HNRNPA1 Gene

Protein differential expression in normal tissues from HIPED for HNRNPA1 Gene

This gene is overexpressed in Fetal gut (6.7) and Fetal ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HNRNPA1 Gene



Protein tissue co-expression partners for HNRNPA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HNRNPA1 Gene:

HNRNPA1

SOURCE GeneReport for Unigene cluster for HNRNPA1 Gene:

Hs.546261

Evidence on tissue expression from TISSUES for HNRNPA1 Gene

  • Nervous system(5)
  • Eye(4.9)
  • Kidney(4.9)
  • Liver(4.9)
  • Lung(4.9)
  • Blood(4.8)
  • Intestine(4.7)
  • Skin(4.3)
  • Bone marrow(4)
  • Pancreas(4)
  • Muscle(3.9)
  • Heart(3.6)
  • Stomach(3.5)
  • Bone(3)
  • Spleen(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with HNRNPA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HNRNPA1 Gene

Orthologs for HNRNPA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNRNPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HNRNPA1 33
  • 100 (a)
OneToOne
HNRPA1LK1 32
  • 99.58 (n)
mouse
(Mus musculus)
Mammalia Hnrnpa1 33
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 95 (a)
ManyToMany
-- 33
  • 86 (a)
ManyToMany
-- 33
  • 82 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia HNRNPA1 33 32
  • 94.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hnrnpa1 32
  • 92.4 (n)
dog
(Canis familiaris)
Mammalia -- 33
  • 91 (a)
ManyToMany
-- 33
  • 88 (a)
ManyToMany
-- 33
  • 88 (a)
ManyToMany
-- 33
  • 86 (a)
ManyToMany
-- 33
  • 81 (a)
ManyToMany
-- 33
  • 81 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100859627 32
  • 76.72 (n)
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 87 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia hnrpa1-prov 32
zebrafish
(Danio rerio)
Actinopterygii Dr.708 32
Species where no ortholog for HNRNPA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HNRNPA1 Gene

ENSEMBL:
Gene Tree for HNRNPA1 (if available)
TreeFam:
Gene Tree for HNRNPA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HNRNPA1: view image

Paralogs for HNRNPA1 Gene

(44) SIMAP similar genes for HNRNPA1 Gene using alignment to 7 proteins:

  • ROA1_HUMAN
  • F8VTQ5_HUMAN
  • F8VYN5_HUMAN
  • F8VZ49_HUMAN
  • F8W646_HUMAN
  • F8W6I7_HUMAN
  • H0YH80_HUMAN

Pseudogenes.org Pseudogenes for HNRNPA1 Gene

genes like me logo Genes that share paralogs with HNRNPA1: view

Variants for HNRNPA1 Gene

Sequence variations from dbSNP and Humsavar for HNRNPA1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs3206707 likely-benign, Relapsing remitting multiple sclerosis 54,284,305(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs3207617 likely-pathogenic, Relapsing remitting multiple sclerosis 54,283,899(+) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs397518452 pathogenic, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424] 54,283,845(+) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs397518453 pathogenic, Amyotrophic lateral sclerosis 20, Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] 54,283,844(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs397518454 pathogenic, Amyotrophic lateral sclerosis 20, Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] 54,283,860(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HNRNPA1 Gene

Variant ID Type Subtype PubMed ID
esv25123 CNV loss 19812545
nsv1049160 CNV gain 25217958
nsv832420 CNV loss 17160897
nsv976627 CNV duplication 23825009

Variation tolerance for HNRNPA1 Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNRNPA1 Gene

Human Gene Mutation Database (HGMD)
HNRNPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPA1 Gene

Disorders for HNRNPA1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HNRNPA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

ROA1_HUMAN
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269 PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:23455423, ECO:0000269 PubMed:27694260}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HNRNPA1

genes like me logo Genes that share disorders with HNRNPA1: view

No data available for Genatlas for HNRNPA1 Gene

Publications for HNRNPA1 Gene