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Gene

slc9a3r1a

ID
ZDB-GENE-031006-7
Name
SLC9A3 regulator 1a
Symbol
slc9a3r1a Nomenclature History
Previous Names
  • cb895 (1)
  • nherf1 (1)
  • slc9a3 (1)
  • slc9a3r1
  • slc9a3r2
  • wu:fd20a02
  • zgc:55541
  • zgc:77629
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to enable protein-membrane adaptor activity and signaling receptor binding activity. Acts upstream of or within several processes, including otic vesicle development; protein localization to membrane; and sodium ion homeostasis. Predicted to be located in several cellular components, including filopodium; microvillus; and ruffle. Predicted to be active in apical plasma membrane. Is expressed in several structures, including anterior neural keel; central nervous system; mesoderm; neural tube; and pronephros. Used to study ciliopathy and sensorineural hearing loss. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human SLC9A3R1 (SLC9A3 regulator 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
15 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc9a3r1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hypophosphatemic nephrolithiasis/osteoporosis 2 Alliance Nephrolithiasis/osteoporosis, hypophosphatemic, 2 612287
Associated With slc9a3r1a Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Domain IPR015098 EBP50, C-terminal
Family IPR017300 Na(+)/H(+) exchange regulatory cofactor NHERF-1/2
Family IPR031199 Na(+)/H(+) exchange regulatory cofactor NHERF-1
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Protein Length EBP50, C-terminal Na(+)/H(+) exchange regulatory cofactor NHERF-1 Na(+)/H(+) exchange regulatory cofactor NHERF-1/2 PDZ domain PDZ superfamily
UniProtKB:A0A2R8Q534 372
UniProtKB:Q6P2U7 384
UniProtKB:Q7ZVX1 386
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations