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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
56
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis type 20 Likely pathogenic rs397518453 RCV000055650
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
RCV000122447
RCV000122449
RCV000122450
RCV000122451
RCV000122452
RCV000122453
RCV000122454
RCV000122456
RCV000122457
Distal myopathy Likely pathogenic rs2540586309 RCV004585040
Finnish upper limb-onset distal myopathy Pathogenic rs2540585995 RCV003320502
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HNRNPA1-related disorder Uncertain significance; Likely benign; Benign rs759577941, rs2540585415, rs374887260, rs954853403, rs1944189666, rs199853948, rs931122932, rs2540581749, rs758841468, rs778142236, rs527268169, rs772641297, rs536130883, rs182586860, rs539863165 RCV003973769
RCV003406266
RCV003404542
RCV004754993
RCV004755031
RCV003894533
RCV003893885
RCV003979489
RCV003899497
RCV003934017
RCV003934533
RCV003951880
RCV003961899
RCV003930418
RCV003908376
HNRNPA1-related multisystem proteinopathy Uncertain significance rs1944223180 RCV001090144
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Uncertain significance rs1944198670 RCV003994745
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 27414033, 33311513
Adrenocortical Carcinoma Associate 32915499
Alzheimer Disease Associate 25689357, 31162550
Amyotrophic Lateral Sclerosis Associate 24866055, 27414033, 28282387, 29562314, 30279180, 32616036, 32731393, 33311513, 34291734, 36982587, 40097075
Amyotrophic lateral sclerosis 1 Associate 33311513
Arthritis Psoriatic Associate 15191548
Autoimmune Diseases Associate 11984596
beta Thalassemia Associate 28303002
Breast Neoplasms Associate 26791953, 27935425, 34961772, 37402999
Carcinogenesis Associate 26919236, 27984373, 28443473, 34071140, 34933911