Nherf1 MGI Mouse Gene Detail - MGI:1349482 - NHERF family PDZ scaffold protein 1

Symbol

Nherf1
Name

NHERF family PDZ scaffold protein 1
Synonyms

EBP-50, NHE-RF, NHERF1, Slc9a3r1, sodium-hydrogen exchanger regulatory factor

Feature Type

protein coding gene
IDs

MGI:1349482
NCBI Gene: 26941
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr11:115054167-115072007 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 80.65 cM, cytoband E2
Mapping Data

2 experiments

SNPs within 2kb

165 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1349482	protein coding gene	Chr11:115054138-115072009 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019373	protein coding gene	Chr11:119163774-119183179 (+)
A/J	MGP_AJ_G0019342	protein coding gene	Chr11:113964014-113982110 (+)
AKR/J	MGP_AKRJ_G0019312	protein coding gene	Chr11:117364158-117381981 (+)
BALB/cJ	MGP_BALBcJ_G0019316	protein coding gene	Chr11:114381897-114399819 (+)
C3H/HeJ	MGP_C3HHeJ_G0019122	protein coding gene	Chr11:117715595-117734855 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019766	protein coding gene	Chr11:122801792-122823454 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017389	protein coding gene	Chr11:111007827-111025314 (+)
CAST/EiJ	MGP_CASTEiJ_G0018677	protein coding gene	Chr11:119021969-119041243 (+)
CBA/J	MGP_CBAJ_G0019094	protein coding gene	Chr11:127648025-127668659 (+)
DBA/2J	MGP_DBA2J_G0019205	protein coding gene	Chr11:113404120-113421950 (+)
FVB/NJ	MGP_FVBNJ_G0019197	protein coding gene	Chr11:112874989-112892908 (+)
LP/J	MGP_LPJ_G0019275	protein coding gene	Chr11:119543109-119562280 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019230	protein coding gene	Chr11:126832645-126850483 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019804	protein coding gene	Chr11:118022458-118040291 (+)
PWK/PhJ	MGP_PWKPhJ_G0018441	protein coding gene	Chr11:114679843-114697744 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018234	protein coding gene	Chr11:117770058-117787964 (+)
WSB/EiJ	MGP_WSBEiJ_G0018729	protein coding gene	Chr11:117965348-117987319 (+)

Human Ortholog

NHERF1, NHERF family PDZ scaffold protein 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NHERF1, NHERF family PDZ scaffold protein 1
Synonyms

EBP50, NHERF, NHE-RF, NHERF-1, NPHLOP2, SLC9A3R1
Links

HGNC:11075

NCBI Gene ID: 9368

neXtProt AC: NX_O14745

UniProt: O14745
Chr Location

17q25.1; chr17:74748628-74769353 (+) GRCh38

MGI Vertebrate Homology

Nherf1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: NHERF1
Protein SuperFamily

EBP50
Gene Tree

Nherf1

Diseases

1 with human NHERF1 associations

				Human Disease	Mouse Models
				hypophosphatemic nephrolithiasis/osteoporosis 2 IDs hypophosphatemic nephrolithiasis/osteoporosis 2 DOID:0080078 MESH:C567362 OMIM:612287

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

18 phenotypes from 3 alleles in 5 genetic backgrounds
2 phenotypes from multigenic genotypes
39 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

14
Endonuclease-mediated

3
Gene trapped

6
Targeted

5
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells.

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All GO Annotations

121
GO References

26

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1062
Tissues

87
cDNA Data

116
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nherf1

ZFIN nherf1a

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All Sequences

43
RefSeq

4
UniProt

2
CCDS

CCDS36370.1

Ensembl

ENSMUSG00000020733 (Evidence)
NCBI Gene

26941

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020733	Ensembl Gene Model \| MGI Sequence Detail	17841	C57BL/6J	± kb
transcript	ENSMUST00000021077	Ensembl \| MGI Sequence Detail	1925	Not Applicable
polypeptide	ENSMUSP00000021077	Ensembl \| MGI Sequence Detail	355	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000001041 Na(+)/H(+) exchange regulatory cofactor NHE-RF1

(term hierarchy)
InterPro Domains

IPR015098 EBP50, C-terminal

IPR017300 Na(+)/H(+) exchange regulatory cofactor NHERF-1/2

IPR001478 PDZ domain

IPR036034 PDZ superfamily

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All nucleic 120

cDNA 117

Primer pair 3

Microarray probesets 5

Summaries

All 103

Developmental Gene Expression 14

Gene Ontology 26

Phenotypes 39
Earliest

J:57785 Weinman EJ, et al., Molecular cloning of the cDNA and promoter sequences for the mouse sodium-hydrogen exchanger regulatory factor. Biochim Biophys Acta. 1999 Oct 6;1447(1):71-6
Latest

J:331268 Ding Y, et al., A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene. Elife. 2022 Oct 18;11

TSS for Nherf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr105840	Chr11:115054159-115054174 (+)	0 bp
Tssr3727	Chr11:115054182-115054197 (+)	23 bp
Tssr105841	Chr11:115054200-115054209 (+)	38 bp
Tssr105842	Chr11:115054226-115054239 (+)	66 bp
Tssr105843	Chr11:115054243-115054245 (+)	77 bp
Tssr105844	Chr11:115054264-115054275 (+)	103 bp
Tssr105845	Chr11:115061736-115061745 (+)	7,574 bp
Tssr105846	Chr11:115070853-115070866 (+)	16,693 bp
Tssr105847	Chr11:115071135-115071146 (+)	16,974 bp
Tssr105848	Chr11:115071781-115071785 (+)	17,616 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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