HNRNPH1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
HNRNPH1
Official Name
heterogeneous nuclear ribonucleoprotein H1 [Source:HGNC Symbol;Acc:HGNC:5041]
Ensembl ID
ENSG00000169045
Bio databases IDs NCBI: 3187 Ensembl: ENSG00000169045
Aliases heterogeneous nuclear ribonucleoprotein H1
Synonyms AC270306.4, AI642080, E430005G16Rik, heterogeneous nuclear ribonucleoprotein H1, Hnrh1, hnRNP H, HNRPH, HNRPH1, NEDCDS
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HNRNPH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA recognition motif (RRM) superfamily
  • low complexity domain
  • RNA recognition motif
  • enzyme binding
  • protein binding
  • identical protein binding
  • RNPHF zinc finger
  • RNA binding
  • poly(U) binding protein

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Parkinson disease
  • hereditary disorder
  • neoplasia
  • survival
  • neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
  • conventional mantle cell lymphoma
  • Bain type X-linked syndromic mental retardation
  • head and neck cancer
  • Duke stage B2 colon carcinoma
  • colon epithelial cancer
regulated by
role in cell
  • apoptosis
  • expression in
  • decitabine sensitivity
  • cell cycle progression

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • catalytic step 2 spliceosome
  • cytosol
  • nuclear pores
  • inner nuclear membrane
  • nucleoplasm
  • nucleoli
  • chromatin
  • postsynaptic density
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HNRNPH1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of RNA splicing
  • RNA processing
  • nuclear mRNA splicing, via spliceosome

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • catalytic step 2 spliceosome
  • membrane
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • RNA binding
  • protein binding
  • poly(U) RNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.