nherf1a NHERF family PDZ scaffold protein 1a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: nherf1aprovided by ZNC
Official Full Name: NHERF family PDZ scaffold protein 1aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-031006-7
See related: Ensembl:ENSDARG00000000068 AllianceGenome:ZFIN:ZDB-GENE-031006-7
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb895; nherf1; slc9a3; slc9a3r1; slc9a3r2; slc9a3r1a; zgc:55541; zgc:77629; wu:fd20a02
Summary: 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 ventricular system development. 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 12

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	12	NC_007123.7 (33484444..33537126)
105	previous assembly	GRCz10 (GCF_000002035.5)	12	NC_007123.6 (33383475..33436143)

Chromosome 12 - NC_007123.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results strongly support an important role for NHERF1 in the regulation of Planar Cell Polarity signaling and the development of functional motile cilia.
Title: The PDZ Protein Na+/H+ Exchanger Regulatory Factor-1 (NHERF1) Regulates Planar Cell Polarity and Motile Cilia Organization.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein-membrane adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within otic vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein targeting to membrane	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within receptor clustering	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sodium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microvillus	IEA Inferred from Electronic Annotation more info
located_in ruffle	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: Na(+)/H(+) exchange regulatory cofactor NHE-RF1a

Names: SLC9A3 regulator 1a; solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1; solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1a

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_212707.2 → NP_997872.2 Na(+)/H(+) exchange regulatory cofactor NHE-RF1a

Status: VALIDATED

Source sequence(s)

BC064290, EH434174

UniProtKB/TrEMBL

A0A8N7V0A5, Q6P2U7, Q7ZVX1

Related

ENSDARP00000000069.7, ENSDART00000000069.8

Conserved Domains (2) summary

cd00992
Location:159 → 238

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam09007
Location:242 → 384

EBP50_C; EBP50, C-terminal