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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
Chromosome 5 Β· 5q35.3
NCBI Gene: 3187Ensembl: ENSG00000169045.19HGNC: HGNC:5041UniProt: A0A384MEJ3
416PubMed Papers
1Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
catalytic step 2 spliceosomeregulation of RNA splicingnucleoplasmnucleusNeurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
✦AI Summary

HNRNPH1 is a multifunctional RNA-binding protein that regulates post-transcriptional processes through binding to guanine-rich RNA sequences, including G-quadruplex structures 1. As a component of heterogeneous nuclear ribonucleoprotein complexes, HNRNPH1 mediates pre-mRNA alternative splicing, mRNA stability, translation, and subcellular localization 1. It regulates neuroprotective gene expression via poison exon exclusion mechanisms; specifically, HNRNPH1 mediates cold-dependent exon skipping of the RBM3 neuroprotective factor through thermosensitive G-rich motif interactions 2. HNRNPH1 orchestrates splicing with other factors like BCAS2 and SRSF3 to regulate DNA repair genes during meiosis 3. In disease pathogenesis, rare deleterious mutations in HNRNPH1 cause neurodevelopmental disorders characterized by craniofacial dysmorphism and skeletal defects 4. HNRNPH1 expression correlates with clinical prognosis in aggressive medulloblastoma group 3, where it functions as a transcriptional determinant in regulatory networks driving MYC-mediated oncogenesis 5. In colorectal cancer, PTK6-mediated phosphorylation of HNRNPH1 promotes liquid-liquid phase separation, forming biomolecular condensates that trigger NBR1 splicing-switching to activate autophagy and suppress apoptosis 6. HNRNPH1 also represents a novel recurrent driver in mantle cell lymphoma 7 and functions in extracellular vesicle RNA packaging 8, establishing it as a context-dependent regulator with significant therapeutic potential.

Sources cited
1
HNRNPH1 is a multifunctional RNA-binding protein binding guanine-rich RNA sequences including G-quadruplexes, regulating alternative splicing, mRNA stability, translation, and subcellular localization
PMID: 40507967
2
HNRNPH1 regulates RBM3 neuroprotective protein expression through mediating cold-dependent poison exon skipping via thermosensitive G-rich motif interactions
PMID: 37248947
3
HNRNPH1 orchestrates alternative splicing with BCAS2 and SRSF3 to regulate DNA repair and meiotic genes
PMID: 39520542
4
Rare deleterious mutations in HNRNPH1 cause neurodevelopmental disorders with craniofacial dysmorphism and skeletal defects
PMID: 33874999
5
HNRNPH1 is a transcriptional determinant in aggressive medulloblastoma group 3, correlating with clinical prognosis and driving MYC-mediated oncogenesis
PMID: 36450980
6
PTK6-mediated phosphorylation of HNRNPH1 promotes liquid-liquid phase separation to trigger NBR1 splicing and activate autophagy in colorectal cancer
PMID: 40103198
7
HNRNPH1 is identified as a novel recurrent driver gene in mantle cell lymphoma
PMID: 32584970
8
HNRNPH1 is part of the hnRNP family implicated in extracellular vesicle RNA packaging and sorting
PMID: 33391635
Disease Associationsβ“˜1
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsUniProt
Pathogenic Variants9
NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 206
NM_001257293.2(HNRNPH1):c.1216_1220del (p.Ser406fs)Likely pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
β˜…β˜†β˜†β˜†2024β†’ Residue 406
NM_001257293.2(HNRNPH1):c.224_227del (p.Arg75fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 75
NM_001257293.2(HNRNPH1):c.956T>A (p.Ile319Asn)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 319
NM_001257293.2(HNRNPH1):c.595C>T (p.Arg199Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 199
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)Likely pathogenic
Intellectual disability, X-linked, syndromic, Bain type
β˜…β˜†β˜†β˜†2019β†’ Residue 114
NM_001257293.2(HNRNPH1):c.1240_1243dup (p.Gln415fs)Pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
β˜†β˜†β˜†β˜†2023β†’ Residue 415
NM_001257293.2(HNRNPH1):c.617G>A (p.Arg206Gln)Pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
β˜†β˜†β˜†β˜†2022β†’ Residue 206
NM_001257293.2(HNRNPH1):c.618dup (p.Pro207fs)Pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
β˜†β˜†β˜†β˜†2022β†’ Residue 207
View on ClinVar β†—
Related Genes
ILF3Protein interaction100%PTBP1Protein interaction99%HNRNPFProtein interaction99%NCLProtein interaction99%PSME3Protein interaction99%SAP18Protein interaction99%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
HNRNPH1ILF3PTBP1HNRNPFNCLPSME3SAP18
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZUG Β· 1.07 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere HNRNPH1 stands among ~20K protein-coding genes
  • #684of 20,598
    Most Researched416 Β· top 5%
  • #2,907of 5,498
    Most Pathogenic Variants9
Genes detectedHNRNPH1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Human fetal cerebellar cell atlas informs medulloblastoma origin and oncogenesis.
PMID: 36450980
Nature Β· 2022
1.00
2
PTK6 drives HNRNPH1 phase separation to activate autophagy and suppress apoptosis in colorectal cancer.
PMID: 40103198
Autophagy Β· 2025
0.90
3
HNRNPH1 stabilizes FLOT2 mRNA in a non-canonical m6A-dependent manner to promote malignant progression in nasopharyngeal carcinoma.
PMID: 39570559
Cell Oncol (Dordr) Β· 2024
0.80
4
RNA packaging into extracellular vesicles: An orchestra of RNA-binding proteins?
PMID: 33391635
J Extracell Vesicles Β· 2020
0.80
5
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
PMID: 33874999
Genome Med Β· 2021
0.70