Human Gene HNRNPA1 (ENST00000340913.11_5) from GENCODE V47lift37
  Description: heterogeneous nuclear ribonucleoprotein A1, transcript variant 2 (from RefSeq NM_031157.4)
Gencode Transcript: ENST00000340913.11_5
Gencode Gene: ENSG00000135486.19_15
Transcript (Including UTRs)
   Position: hg19 chr12:54,674,510-54,680,871 Size: 6,362 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr12:54,674,592-54,678,097 Size: 3,506 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:54,674,510-54,680,871)mRNA (may differ from genome)Protein (372 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ROA1_HUMAN
DESCRIPTION: RecName: Full=Heterogeneous nuclear ribonucleoprotein A1; Short=hnRNP A1; AltName: Full=Helix-destabilizing protein; AltName: Full=Single-strand RNA-binding protein; AltName: Full=hnRNP core protein A1;
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. May play a role in HCV RNA replication.
SUBUNIT: Identified in the spliceosome C complex. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with SEPT6. Interacts with HCV NS5B and with the 5'-UTR and 3'-UTR of HCV RNA.
SUBCELLULAR LOCATION: 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. In the course of viral infection, colocalizes with HCV NS5B at speckles in the cytoplasm in a HCV-replication dependent manner.
PTM: Arg-194, Arg-206 and Arg-225 are dimethylated, probably to asymmetric dimethylarginine.
PTM: Sumoylated.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HNRNPA1
Diseases sorted by gene-association score: inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3* (1350), amyotrophic lateral sclerosis 20* (1247), hnrnpa1-related amyotrophic lateral sclerosis* (500), secondary progressive multiple sclerosis* (400), amyotrophic lateral sclerosis 1* (82), lateral sclerosis (19), oculopharyngeal muscular dystrophy (10), comedo carcinoma (8), human t-cell leukemia virus type 2 (7), dementia (5), spinal cord disease (4), myopathy (4), spinal muscular atrophy (2), dementia, frontotemporal (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 174.71 RPKM in Ovary
Total median expression: 3095.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.3082-0.138 Picture PostScript Text
3' UTR -671.602543-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF11627 - Nuclear factor hnRNPA1
PF16367 - RNA recognition motif

SCOP Domains:
50249 - Nucleic acid-binding proteins
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1HA1 - X-ray MuPIT 1L3K - X-ray MuPIT 1PGZ - X-ray MuPIT 1PO6 - X-ray MuPIT 1U1K - X-ray MuPIT 1U1L - X-ray MuPIT 1U1M - X-ray MuPIT 1U1N - X-ray MuPIT 1U1O - X-ray MuPIT 1U1P - X-ray MuPIT 1U1Q - X-ray MuPIT 1U1R - X-ray MuPIT 1UP1 - X-ray 2H4M - X-ray MuPIT 2UP1 - X-ray


ModBase Predicted Comparative 3D Structure on P09651
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003697 single-stranded DNA binding
GO:0003723 RNA binding
GO:0003727 single-stranded RNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0035198 miRNA binding
GO:0036002 pre-mRNA binding
GO:0042802 identical protein binding
GO:0061752 telomeric repeat-containing RNA binding
GO:0098505 G-rich strand telomeric DNA binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0008380 RNA splicing
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0016032 viral process
GO:0016070 RNA metabolic process
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0032212 positive regulation of telomere maintenance via telomerase
GO:0042149 cellular response to glucose starvation
GO:0051028 mRNA transport
GO:0051168 nuclear export
GO:0051170 nuclear import
GO:1903936 cellular response to sodium arsenite

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0070062 extracellular exosome
GO:0071013 catalytic step 2 spliceosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  DL492473 - Novel nucleic acids.
DL492474 - Novel nucleic acids.
AK298176 - Homo sapiens cDNA FLJ51587 complete cds, highly similar to Heterogeneous nuclear ribonucleoprotein A1.
BC009600 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:14692 IMAGE:4134638), complete cds.
GQ900890 - Homo sapiens clone HEL-T-2 epididymis secretory sperm binding protein mRNA, complete cds.
AK303303 - Homo sapiens cDNA FLJ51586 complete cds, moderately similar to Heterogeneous nuclear ribonucleoprotein A1.
AK308679 - Homo sapiens cDNA, FLJ98720.
AK129814 - Homo sapiens cDNA FLJ26303 fis, clone DMC07819, highly similar to HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1.
X06747 - Human hnRNP core protein A1.
BC070315 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:88317 IMAGE:4101267), complete cds.
D28353 - Homo sapiens mRNA for hnRNP A1, 5'UTR region.
AK291113 - Homo sapiens cDNA FLJ75550 complete cds, highly similar to Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRPA1), transcript variant 1, mRNA.
DL490948 - Novel nucleic acids.
BC071945 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:88632 IMAGE:5475712), complete cds.
BC078165 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone IMAGE:6179438), with apparent retained intron.
BC121133 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:150453 IMAGE:40120894), complete cds.
BC073162 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:87898 IMAGE:6154972), complete cds.
BC074502 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:65152 IMAGE:3455742), complete cds.
BC002355 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:8473 IMAGE:2821751), complete cds.
BC033714 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:45574 IMAGE:4420039), complete cds.
BC052296 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:59854 IMAGE:6297642), complete cds.
BC020442 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone IMAGE:3447644).
BC103707 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:102835 IMAGE:6154800), complete cds.
X79536 - H.sapiens mRNA for hnRNPcore protein A1.
BC012158 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone MGC:20389 IMAGE:4564655), complete cds.
JD024469 - Sequence 5493 from Patent EP1572962.
U00947 - Human clone C4E 3.2 (CAC)n/(GTG)n repeat-containing mRNA.
JD023373 - Sequence 4397 from Patent EP1572962.
JD025096 - Sequence 6120 from Patent EP1572962.
JD027160 - Sequence 8184 from Patent EP1572962.
AB463728 - Synthetic construct DNA, clone: pF1KB8121, Homo sapiens HNRNPA1 gene for heterogeneous nuclear ribonucleoprotein A1, without stop codon, in Flexi system.
KJ891371 - Synthetic construct Homo sapiens clone ccsbBroadEn_00765 HNRNPA1 gene, encodes complete protein.
CU677924 - Synthetic construct Homo sapiens gateway clone IMAGE:100018904 5' read HNRPA1 mRNA.
JD025270 - Sequence 6294 from Patent EP1572962.
JD030800 - Sequence 11824 from Patent EP1572962.
JD032418 - Sequence 13442 from Patent EP1572962.
BC004945 - Homo sapiens, clone IMAGE:3615335, mRNA, partial cds.
AX960498 - Sequence 7 from Patent WO03102185.
JD022392 - Sequence 3416 from Patent EP1572962.
JD026016 - Sequence 7040 from Patent EP1572962.
DQ579214 - Homo sapiens piRNA piR-47326, complete sequence.
JD035595 - Sequence 16619 from Patent EP1572962.
JD027800 - Sequence 8824 from Patent EP1572962.
X04347 - Human liver mRNA fragment DNA binding protein UPI homologue (C-terminus).
HW916135 - JP 2015503356-A/12: SYSTEM AND METHOD OF DETECTING RNAS ALTERED BY CANCER IN PERIPHERAL BLOOD.
BC104236 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone IMAGE:40033043), partial cds.
BC104237 - Homo sapiens heterogeneous nuclear ribonucleoprotein A1, mRNA (cDNA clone IMAGE:40033044), partial cds.
LF346286 - JP 2014500723-A/153789: Polycomb-Associated Non-Coding RNAs.
BC035253 - Homo sapiens, Similar to heterogeneous nuclear ribonucleoprotein A1, clone IMAGE:4754686, mRNA.
LF346287 - JP 2014500723-A/153790: Polycomb-Associated Non-Coding RNAs.
JD176203 - Sequence 157227 from Patent EP1572962.
AX960506 - Sequence 15 from Patent WO03102185.
JD377552 - Sequence 358576 from Patent EP1572962.
LF346289 - JP 2014500723-A/153792: Polycomb-Associated Non-Coding RNAs.
JD196172 - Sequence 177196 from Patent EP1572962.
JD370615 - Sequence 351639 from Patent EP1572962.
JD178131 - Sequence 159155 from Patent EP1572962.
JD462246 - Sequence 443270 from Patent EP1572962.
JD344496 - Sequence 325520 from Patent EP1572962.
JD026937 - Sequence 7961 from Patent EP1572962.
JD030853 - Sequence 11877 from Patent EP1572962.
MA581863 - JP 2018138019-A/153789: Polycomb-Associated Non-Coding RNAs.
MA581864 - JP 2018138019-A/153790: Polycomb-Associated Non-Coding RNAs.
MA581866 - JP 2018138019-A/153792: Polycomb-Associated Non-Coding RNAs.
MB422070 - JP 2019162102-A/12: SYSTEM AND METHOD OF DETECTING RNAS ALTERED BY CANCER IN PERIPHERAL BLOOD.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P09651 (Reactome details) participates in the following event(s):

R-HSA-72103 Formation of pre-mRNPs
R-HSA-6803523 PTB and hnRNPA1 bind FGFR2 pre-mRNA to repress IIIb splicing and promote formation of FGFR2c mRNA
R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-6803529 FGFR2 alternative splicing
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-8953854 Metabolism of RNA
R-HSA-5654738 Signaling by FGFR2
R-HSA-72172 mRNA Splicing
R-HSA-190236 Signaling by FGFR
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4Z8, ENST00000340913.1, ENST00000340913.10, ENST00000340913.2, ENST00000340913.3, ENST00000340913.4, ENST00000340913.5, ENST00000340913.6, ENST00000340913.7, ENST00000340913.8, ENST00000340913.9, HNRPA1, NM_031157, P09651, Q3MIB7, Q6PJZ7, ROA1_HUMAN, uc317vvq.1, uc317vvq.2
UCSC ID: ENST00000340913.11_5
RefSeq Accession: NM_031157.4
Protein: P09651 (aka ROA1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HNRNPA1:
als-overview (Amyotrophic Lateral Sclerosis Overview)
ibmpfd (Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.