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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
Chromosome 12 Β· 12q13.13
NCBI Gene: 3178Ensembl: ENSG00000135486.20HGNC: HGNC:5031UniProt: A0A024RB53
602PubMed Papers
23Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranespliceosomal complexcatalytic step 2 spliceosomeribonucleoprotein complexamyotrophic lateral sclerosischronic progressive multiple sclerosisinclusion body myopathy with Paget disease of bone and frontotemporal dementiaFinnish upper limb-onset distal myopathy
✦AI Summary

HNRNPA1 is a multifunctional RNA-binding protein with critical roles in RNA metabolism and disease pathogenesis. Functionally, HNRNPA1 mediates pre-mRNA splicing and regulates miRNA packaging into exosomes 12. The protein contains a prion-like domain (PrLD) that enables liquid-liquid phase separation (LLPS) into biomolecular condensates, which facilitates stress granule assembly 3. This phase separation mechanism is shared with other RBPs implicated in neurodegeneration 4. Pathogenic mutations in HNRNPA1's PrLD enhance fibril formation and accelerate disease-related polymerization, driving pathological inclusions in multiple tissues 5. Disease associations include amyotrophic lateral sclerosis (ALS), inclusion body myopathy, and frontotemporal dementia, diseases characterized by RBP aggregation. HNRNPA1 also interacts directly with phosphorylated tau in Alzheimer's disease brains, suggesting involvement in tauopathies 6. Clinically, HNRNPA1-mediated exosomal miRNA export contributes to cancer progression and chemotherapy resistance by regulating tumor microenvironment signaling 127. The protein's role in LLPS-driven pathological aggregation establishes it as a key therapeutic target for multiple neurodegenerative diseases.

Sources cited
1
HNRNPA1 undergoes liquid-liquid phase separation mediated by low complexity domains, facilitating stress granule assembly
PMID: 26406374
2
Pathogenic mutations in HNRNPA1's prion-like domain cause ALS, inclusion body myopathy, and frontotemporal dementia by accelerating fibril formation
PMID: 23455423
3
HNRNPA1 liquid-liquid phase separation is analogous to tau, FUS, and TDP43 in neurodegenerative disease pathogenesis
PMID: 29472250
4
HNRNPA1 mediates miR-23a-3p packaging into macrophage-derived exosomes, promoting HCC metastasis
PMID: 37904170
5
HNRNPA1 mediates miR-522 packing into exosomes; USP7 stabilizes HNRNPA1 to regulate cancer cell ferroptosis and chemotherapy resistance
PMID: 32106859
6
HNRNPA1 regulates miR-106a-5p transport into exosomes, promoting colorectal cancer liver metastasis via M2 macrophage polarization
PMID: 39385295
7
HNRNPA1 directly interacts with phosphorylated tau in Alzheimer's disease neurofibrillary tangles
PMID: 32812023
Disease Associationsβ“˜23
amyotrophic lateral sclerosisOpen Targets
0.64Moderate
chronic progressive multiple sclerosisOpen Targets
0.51Moderate
inclusion body myopathy with Paget disease of bone and frontotemporal dementiaOpen Targets
0.51Moderate
Finnish upper limb-onset distal myopathyOpen Targets
0.48Moderate
amyotrophic lateral sclerosis type 20Open Targets
0.43Moderate
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3Open Targets
0.42Moderate
dengue diseaseOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
relapsing-remitting multiple sclerosisOpen Targets
0.34Weak
distal myopathyOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.18Weak
hepatocellular carcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
gastric cancerOpen Targets
0.10Weak
cancerOpen Targets
0.10Weak
deep vein thrombosisOpen Targets
0.10Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
myeloid sarcomaOpen Targets
0.10Suggestive
Amyotrophic lateral sclerosis 20UniProt
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3UniProt
Myopathy, distal, 3UniProt
Pathogenic Variants21
NM_031157.4(HNRNPA1):c.1113_*2delinsTAA (p.Arg371_Ter373delinsSerXaa)Likely pathogenic
Distal myopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 371
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)Likely pathogenic
not provided|Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
β˜…β˜†β˜†β˜†2020β†’ Residue 314
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn)Likely pathogenic
not provided|Amyotrophic lateral sclerosis type 20
β˜…β˜†β˜†β˜†2019β†’ Residue 314
NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala)Likely pathogenic
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
β˜…β˜†β˜†β˜†2018β†’ Residue 340
NM_031157.4(HNRNPA1):c.1064-63_*4+37delPathogenic
Finnish upper limb-onset distal myopathy
β˜†β˜†β˜†β˜†2023
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu)Likely pathogenic
Relapsing remitting multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 328
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 329
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser)Likely pathogenic
Relapsing remitting multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 332
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 336
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 337
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 347
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 348
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 351
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 353
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 353
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 327
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp)Likely pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 317
NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu)Pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 325
NM_031157.4(HNRNPA1):c.973T>G (p.Phe325Val)Pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 325
NM_031157.4(HNRNPA1):c.997T>C (p.Phe333Leu)Pathogenic
Chronic progressive multiple sclerosis
β˜†β˜†β˜†β˜†β†’ Residue 333
View on ClinVar β†—
Related Genes
HNRNPA2B1Protein interaction100%DROSHAProtein interaction100%PURAProtein interaction100%ATXN2Protein interaction100%TIA1Protein interaction100%TIAL1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
80%
Brain
53%
Lung
36%
Liver
21%
Heart
20%
Gene Interaction Network
Click a node to explore
HNRNPA1HNRNPA2B1DROSHAPURAATXN2TIA1TIAL1
PROTEIN STRUCTURE
Preparing viewer…
PDB5ZGL Β· 0.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.36]
RankingsWhere HNRNPA1 stands among ~20K protein-coding genes
  • #392of 20,598
    Most Researched602 Β· top 5%
  • #2,123of 5,498
    Most Pathogenic Variants21
  • #1,587of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedHNRNPA1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Tau protein liquid-liquid phase separation can initiate tau aggregation.
PMID: 29472250
EMBO J Β· 2018
1.00
2
M2 macrophage-secreted exosomes promote metastasis and increase vascular permeability in hepatocellular carcinoma.
PMID: 37904170
Cell Commun Signal Β· 2023
0.90
3
Profiling PRMT methylome reveals roles of hnRNPA1 arginine methylation in RNA splicing and cell growth.
PMID: 33782401
Nat Commun Β· 2021
0.82
4
LTA4H improves the tumor microenvironment and prevents HCC progression via targeting the HNRNPA1/LTBP1/TGF-Ξ² axis.
PMID: 40056904
Cell Rep Med Β· 2025
0.80
5
CAF secreted miR-522 suppresses ferroptosis and promotes acquired chemo-resistance in gastric cancer.
PMID: 32106859
Mol Cancer Β· 2020
0.80