Gene
nherf1a
- ID
- ZDB-GENE-031006-7
- Name
- NHERF family PDZ scaffold protein 1a
- Symbol
- nherf1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have molecular adaptor activity. Involved in several processes, including otic vesicle development; protein localization to membrane; and sodium ion homeostasis. Predicted to localize to endomembrane system and membrane. Used to study ciliopathy. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Is expressed in several structures, including anterior neural keel; central nervous system; mesoderm; neural tube; and pronephros. Orthologous to human SLC9A3R1 (SLC9A3 regulator 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb895 (36 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypophosphatemic nephrolithiasis/osteoporosis 2 | Alliance | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | EBP50, C-terminal | Na+/H+ exchange regulatory cofactor | Na(+)/H(+) exchange regulatory cofactor NHERF-1/2 | PDZ domain | PDZ superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6P2U7
|
384 | |||||
|
UniProtKB:Q7ZVX1
|
386 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc9a3r1a-201
(1)
|
Ensembl | 2,033 nt | ||
| ncRNA |
slc9a3r1-002
(1)
|
Ensembl | 901 nt |
Interactions and Pathways
No data available
Plasmids
No data available