Seroatlas · Human Serome Atlas

NHERF1

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

Also known as: EBP50, NHERF, NHRF1_HUMAN, SLC9A3R1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O14745
Gene
NHERF1
Ensembl
ENSG00000109062
Chromosome
17
Canonical length
358 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Plasma membrane,Centriolar satellite,Basal body,Cytosol,Calyx
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

358 residues, UniProt reviewed canonical sequence.

>O14745|NHERF1
     1  MSADAAAGAP LPRLCCLEKG PNGYGFHLHG EKGKLGQYIR LVEPGSPAEK AGLLAGDRLV
    61  EVNGENVEKE THQQVVSRIR AALNAVRLLV VDPETDEQLQ KLGVQVREEL LRAQEAPGQA
   121  EPPAAAEVQG AGNENEPREA DKSHPEQREL RPRLCTMKKG PSGYGFNLHS DKSKPGQFIR
   181  SVDPDSPAEA SGLRAQDRIV EVNGVCMEGK QHGDVVSAIR AGGDETKLLV VDRETDEFFK
   241  KCRVIPSQEH LNGPLPVPFT NGEIQKENSR EALAEAALES PRPALVRSAS SDTSEELNSQ
   301  DSPPKQDSTA PSSTSSSDPI LDFNISLAMA KERAHQKRSS KRAPQMDWSK KNELFSNL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NHERF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
348 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 348 nTPM
  • liver: 261 nTPM
  • small intestine: 258 nTPM
  • duodenum: 243 nTPM
  • choroid plexus: 227 nTPM
  • kidney: 202 nTPM

Single-cell type

  • esophageal apical cells: 682 nCPM
  • esophageal suprabasal cells: 576 nCPM
  • enterocytes: 509 nCPM
  • respiratory secretory cells: 257 nCPM
  • esophageal basal cells: 256 nCPM
  • suprabasal keratinocytes: 252 nCPM

Immune cell

  • basophil: 584 nTPM
  • eosinophil: 442 nTPM
  • gdT-cell: 422 nTPM
  • memory CD8 T-cell: 360 nTPM
  • total PBMC: 346 nTPM
  • neutrophil: 320 nTPM

Brain region

  • choroid plexus: 143 nTPM
  • cerebral cortex: 126 nTPM
  • cerebellum: 96 nTPM
  • white matter: 94 nTPM
  • thalamus: 91 nTPM
  • basal ganglia: 90 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NHERF1.

Disease | AllUniProt

Conditions NHERF1 is implicated in, by any mechanism.

  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) MIM:612287

Disease | ImmuneIEDB

Conditions an epitope on NHERF1 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.16
gnomAD pLI
0
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NHERF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NHERF1 as an antibody target. Whether an autoantibody or antibody against NHERF1 could matter depends on whether native NHERF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NHERF1 is annotated at the cell surface, where native NHERF1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label NHERF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NHERF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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