Gene Gene information from NCBI Gene database.
Entrez ID 3178
Gene name Heterogeneous nuclear ribonucleoprotein A1
Gene symbol HNRNPA1
Synonyms (NCBI Gene)
ALS19ALS20HNRPA1HNRPA1L3IBMPFD3MPD3UP 1hnRNP A1hnRNP-A1
Chromosome 12
Chromosome location 12q13.13
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
SNPs SNP information provided by dbSNP.
20
SNP ID Visualize variation Clinical significance Consequence
rs3207617 A>G,T Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs397518452 A>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs397518453 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs397518454 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs483353022 T>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1064
miRTarBase ID miRNA Experiments Reference
MIRT024037 hsa-miR-1-3p Proteomics 18668040
MIRT028678 hsa-miR-30a-5p Proteomics 18668040
MIRT031226 hsa-miR-19b-3p Sequencing 20371350
MIRT050353 hsa-miR-25-3p CLASH 23622248
MIRT048737 hsa-miR-96-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYC Activation 20010808
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 25689357
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529, 11991638
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164017 5031 ENSG00000135486
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09651
Protein name Heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) (Helix-destabilizing protein) (Single-strand RNA-binding protein) (hnRNP core protein A1) [Cleaved into: Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed]
Protein function Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection (PubMed:17371836). Plays a role in the splicing of pyruvate kinase PKM by binding rep
PDB 1HA1 , 1L3K , 1PGZ , 1PO6 , 1U1K , 1U1L , 1U1M , 1U1N , 1U1O , 1U1P , 1U1Q , 1U1R , 1UP1 , 2H4M , 2LYV , 2UP1 , 4YOE , 5MPG , 5MPL , 5ZGD , 5ZGL , 6BXX , 6DCL , 6J60 , 7BX7 , 7ZJ2 , 8IK7 , 8IKB , 8IKP , 8IKS , 8RZV , 8X0N , 9F1S , 9F4D , 9F4G , 9F4H , 9F4J , 9F4K , 9F4L , 9F4N , 9F4O , 9F4P , 9F4Q , 9F4R , 9F4S , 9F4T , 9F4U , 9F4V , 9F4W , 9F4X , 9F4Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 16 85 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 107 176 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF11627 HnRNPA1 307 344 Nuclear factor hnRNPA1 Family
Sequence
MSKSESPKEPEQLRKLFIGGLSFETTDESLRSHFEQWGTLTDCVVMRDPNTKRSRGFGFV
TYATVEEVDAAMNARPHKVDGRVVE
PKRAVSREDSQRPGAHLTVKKIFVGGIKEDTEEHH
LRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVDKIVIQKYHTVNGHNCE
VRKA
LSKQEMASASSSQRGRSGSGNFGGGRGGGFGGNDNFGRGGNFSGRGGFGGSRGGGGYGGS
GDGYNGFGNDGGYGGGGPGYSGGSRGYGSGGQGYGNQGSGYGGSGSYDSYNNGGGGGFGG
GSGSNFGGGGSYNDFGNYNNQSSNFGPMKGGNFGGRSSGPYGGGGQYFAKPRNQGGYGGS
SSSSSYGSGRRF
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Amyotrophic lateral sclerosis
  FGFR2 alternative splicing
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyotrophic lateral sclerosis type 20 Likely pathogenic rs397518453 RCV000055650
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic progressive multiple sclerosis Likely pathogenic; Pathogenic rs483353022, rs483353023, rs483353028, rs483353029, rs483353030, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038 RCV000122441
RCV000122442
RCV000122443
RCV000122444
RCV000122445
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal myopathy Likely pathogenic rs2540586309 RCV004585040
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Finnish upper limb-onset distal myopathy Pathogenic rs2540585995 RCV003320502
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 20 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISTAL MUSCULAR DYSTROPHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 1406633
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 25176346
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26581508
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 32915499 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25689357, 31162550 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23247072, 23827524, 24612671, 24866055, 25616961, 27414033, 27694260, 28000042, 28282387, 28980860, 29033165, 29131108, 29425503, 29562314, 30279180
View all (2 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis ORPHANET_DG 23455423
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24866055, 27414033, 28282387, 29562314, 30279180, 32616036, 32731393, 33311513, 34291734, 36982587, 40097075 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations