HNRNPA1 (Heterogeneous Nuclear Ribonucleoprotein A1)
A key RNA-binding protein involved in mRNA processing, transport, and metabolism; mutations are linked to multisystem proteinopathy and amyotrophic lateral sclerosis.
Gene Information Card
| Symbol | HNRNPA1 |
|---|---|
| Full Name | heterogeneous nuclear ribonucleoprotein A1 |
| Gene Type | protein coding |
| Chromosomal Location | 12q13.1 |
| NCBI Gene ID | 3178 ncbi.nlm.nih.gov/gene/3178 |
| Ensembl ID | ENSG00000135486 |
| UniProt ID | P09651 |
| OMIM ID | 164017 |
| HGNC ID | 5031 |
| Aliases | hnRNP A1, HNRPA1, hnRNPA1, ALS20 |
Description
HNRNPA1 encodes heterogeneous nuclear ribonucleoprotein A1, a member of the hnRNP family. This protein is involved in pre-mRNA processing, mRNA transport, and alternative splicing. It contains two RNA recognition motifs and a glycine-rich domain. Mutations in HNRNPA1 are associated with amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Missense mutations in the prion-like domain cause aberrant protein aggregation and toxicity. | ClinVar, OMIM |
| Multisystem proteinopathy (MSP) | Mutations in the prion-like domain lead to cytoplasmic inclusions and disrupt RNA metabolism. | OMIM, PubMed |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (IBMPFD) | Similar prion-like domain mutations cause protein aggregation in muscle and brain. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 39.2 | High |
| Spleen | 35.1 | High |
| Testis | 32.8 | High |
| Brain | 28.5 | Medium |
| Liver | 25.4 | Medium |
| Heart | 22.3 | Medium |
| Kidney | 20.1 | Medium |
| Pancreas | 15.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 45.2 | Lung carcinoma |
| HeLa | 38.7 | Cervical adenocarcinoma |
| K562 | 33.4 | Leukemia |
| MCF7 | 29.8 | Breast adenocarcinoma |
| HepG2 | 26.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp262Val (c.785A>T) | Missense | Rare | Gain of toxic function; promotes aggregation |
| p.Asp262Asn (c.784G>A) | Missense | Rare | Gain of toxic function; promotes aggregation |
| p.Pro288Ser (c.862C>T) | Missense | Rare | Gain of toxic function; promotes aggregation |
| p.Leu277Phe (c.829C>T) | Missense | Rare | Gain of toxic function; promotes aggregation |
Mutation functional classification
Loss of Function (LOF)
Not well established; most mutations are dominant and cause gain of toxic function.
Gain of Function (GOF)
Mutations in the prion-like domain enhance aggregation propensity, leading to cytoplasmic inclusions and neurotoxicity.
Dominant Negative (DN)
Possible; mutant protein may interfere with wild-type hnRNP A1 function in RNA processing.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • protein binding | • nucleotide binding |
| • nucleic acid binding | • mRNA processing |
| • mRNA splicing | • regulation of alternative mRNA splicing |
| • mRNA transport | • nucleus |
| • cytoplasm | • stress granule |
Pathways
• mRNA Splicing - Major Pathway
• Transport of Mature mRNA to Cytoplasm
• Regulation of mRNA Stability by Proteins that Bind AU-Rich Elements
Protein Summary
HNRNPA1 is a 320-amino acid protein with two N-terminal RNA recognition motifs (RRMs) and a C-terminal glycine-rich domain. It binds to RNA and is involved in pre-mRNA splicing, mRNA export, and translational regulation. Under stress conditions, it can translocate to the cytoplasm and participate in stress granule formation. Mutations in the prion-like domain cause protein aggregation, leading to neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPA1L2 Knockout HEK293 Cell Line | EDJ-KQ3606 | Human | 144983 | Details Get a Quote |
| HNRNPA1L3 Knockout HEK293 Cell Line | EDJ-KQ13765 | Human | 642659 | Details Get a Quote |
| HNRNPA1L2 Knockout HCT 116 Cell Line | EDJ-KQ24148 | Human | 144983 | Details Get a Quote |
| HNRNPA1 Knockout HCT 116 Cell Line | EDJ-KQ18361 | Human | 3178 | Details Get a Quote |
| HNRNPA1L2 Knockout A-549 Cell Line | EDJ-KQ25520 | Human | 144983 | Details Get a Quote |
| HNRNPA1L2 Knockout HeLa Cell Line | EDJ-KQ25522 | Human | 144983 | Details Get a Quote |
| HNRNPA1L3 Knockout HeLa Cell Line | EDJ-KQ42288 | Human | 642659 | Details Get a Quote |
| HNRNPA1L3 Knockout A-549 Cell Line | EDJ-KQ43549 | Human | 642659 | Details Get a Quote |
| HNRNPA1L3 Knockout HCT 116 Cell Line | EDJ-KQ43550 | Human | 642659 | Details Get a Quote |
| HNRNPA1 Knockout HEK293 Cell Line | EDJ-KQ50356 | Human | 3178 | Details Get a Quote |
| HNRNPA1 Knockout HeLa Cell Line | EDJ-KQ53541 | Human | 3178 | Details Get a Quote |
| HNRNPA1 Knockout A-549 Cell Line | EDJ-KQ62012 | Human | 3178 | Details Get a Quote |
