HNRNPH1 Chromosome 5
Heterogeneous nuclear ribonucleoprotein H1
Upload your DNA to see your personal genotypes for variants in HNRNPH1.
What This Gene Does
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]
Gene Info
Gene Group
"RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000169045
Associated Conditions (6)
Intellectual disability
X-linked
syndromic
Bain type
Inborn genetic diseases
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Key Variants
RS1772040461
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS2127636119
Likely pathogenic
Health Risk
RS1770718566
Pathogenic
Inborn genetic diseases, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Inborn genetic diseases
Health Risk
RS2532547259
Pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Health Risk
RS2532663080
Pathogenic
Health Risk
RS2532711449
Pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Health Risk
RS2532711553
Pathogenic
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1772040461 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2127636119 | Health Risk | Likely pathogenic | — |
| RS1770718566 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Inborn genetic diseases |
| RS2532547259 | Health Risk | Pathogenic | Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects |
| RS2532663080 | Health Risk | Pathogenic | — |
| RS2532711449 | Health Risk | Pathogenic | Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects |
| RS2532711553 | Health Risk | Pathogenic | Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects |