HNRNPH1
Summary: This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601035 Ensembl IDEnsembl:ENSG00000169045 HGNC IDHGNC:HGNC:5041 PHARMGKB IDPA162391284 Map Location5q35.3 | |||||
GO terms in HNRNPH1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IC | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006396 | RNA processing |
| BP | TAS | GO:0008543 | fibroblast growth factor receptor signaling pathway |
| BP | TAS | GO:0016070 | RNA metabolic process |
| BP | IDA | GO:0043484 | regulation of RNA splicing |
Gene expression in normal tissue: HNRNPH1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HNRNPH1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-190236 | Signaling by FGFR |
| reactome | R-HSA-5654738 | Signaling by FGFR2 |
| reactome | R-HSA-6803529 | FGFR2 alternative splicing |
| reactome | R-HSA-72163 | mRNA Splicing - Major Pathway |
| reactome | R-HSA-72172 | mRNA Splicing |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HNRNPH1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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