HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3178
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPA1
Synonyms (NCBI Gene) Gene synonyms aliases
ALS19, ALS20, HNRPA1, HNRPA1L3, IBMPFD3, MPD3, UP 1, hnRNP A1, hnRNP-A1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
MYC Activation 20010808
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164017 5031 ENSG00000135486
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
TYATVEEVDAAMNARPHKVDGRVVEPKRAVSREDSQRPGAHLTVKKIFVGGIKEDTEEHH
LRDYFEQYGKIEVIEIMTDRGSGKKRGFAFVTFDDHDSVDKIVIQKYHTVNGHNCEVRKA
LSKQEMASASSSQRGRSGSGNFGGGRGGGFGGNDNFGRGGNFSGRGGFGGSRGGGGYGGS
GDGYNGFGNDGGYGGGGPGYSGGSRGYGSGGQGYGNQGSGYGGSGSYDSYNNGGGGGFGG
GSGSNFGGGGSYNDFGNYNNQSSNFGPMKGGNFGGRSSGPYGGGGQYFAKPRNQGGYGGS
SSSSSYGSGRRF
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Spliceosome
Amyotrophic lateral sclerosis 		  FGFR2 alternative splicing
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple Sclerosis Chronic progressive multiple sclerosis, Relapsing remitting multiple sclerosis rs483353039, rs483353029, rs483353038, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353022, rs483353035, rs483353023, rs483353036, rs483353028 N/A
Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 rs1592173638, rs397518452 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 20, amyotrophic lateral sclerosis N/A N/A GenCC
Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia N/A N/A GenCC
Show/Hide Text Mining Associations (73)
Associations from Text Mining Disease 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