Gene

nherf1a

ID

ZDB-GENE-031006-7

Name

NHERF family PDZ scaffold protein 1a

Symbol

nherf1a Nomenclature History

Previous Names

nherf1 (1)
cb895 (1)
slc9a3 (1)
slc9a3r1
slc9a3r1a (1)
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 NHERF1 (NHERF family PDZ scaffold protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

15 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb895 (36 images)

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 nherf1a 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 nherf1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
ciliopathy	AB + MO2-nherf1a	standard conditions	Treat et al., 2016
ciliopathy	AB + MO1-nherf1a	standard conditions	Treat et al., 2016
sensorineural hearing loss	nherf1a^ze001/+; s356tTg	standard conditions	Girotto et al., 2019

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	IPR051067	Na+/H+ exchange regulatory cofactor
Homologous_superfamily	IPR036034	PDZ superfamily