Gene
hnrnph1
- ID
- ZDB-GENE-040426-1856
- Name
- heterogeneous nuclear ribonucleoprotein H1
- Symbol
- hnrnph1 Nomenclature History
- Previous Names
-
- zgc:77712
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm. Human ortholog(s) of this gene implicated in Sjogren's syndrome and syndromic X-linked intellectual disability. Orthologous to several human genes including HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77712 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 620083 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000504 | RNA recognition motif domain |
Domain | IPR012996 | Zinc finger, CHHC-type |
Family | IPR050666 | Epithelial Splicing Regulatory |
Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
Domain Details Per Protein
Protein | Length | Epithelial Splicing Regulatory | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily | RNA recognition motif domain | Zinc finger, CHHC-type |
---|---|---|---|---|---|---|
UniProtKB:Q6P0V0
|
403 | |||||
UniProtKB:A0A8M9QKJ1
|
375 | |||||
UniProtKB:A0A8M2BGX3
|
240 | |||||
UniProtKB:A0A8M2BGZ6
|
377 | |||||
UniProtKB:A0A0R4IZE3
|
402 | |||||
UniProtKB:A0A8M2BGV0
|
400 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
hnrnph1-201
(1)
|
Ensembl | 2,011 nt | ||
mRNA |
hnrnph1-202
(1)
|
Ensembl | 1,956 nt |
Interactions and Pathways
No data available
Plasmids
No data available