HNRNPH1

Chr 5q35.3

heterogeneous nuclear ribonucleoprotein H1

Aliases:: hnRNPH
MANE:: ENST00000393432.9

OMIM: 601035 ↗NCBI: 3187 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HNRNPH1 · P31943

v62025-08-01

Predicted Aligned Error matrix for HNRNPH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.9/ 100

Low

449 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)50%
Low(50–70)11%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
0.67
dengue disease
0.46
hereditary disease
0.41
neurodevelopmental disorder
0.37
syndromic intellectual disability
0.37
intellectual disability, X-linked, syndromic, Bain type
0.27
vertebral column disorder
0.14
arthropathy
0.13
corneal ulcer
0.13
neoplasm
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Heterogeneous nuclear ribonucleoprotein H

This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG)