Seroatlas · Human Serome Atlas

GPHN

Gephyrin

Also known as: GEPH_HUMAN, KIAA1385

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

Protein identityUniProt · HPA

UniProt accession
Q9NQX3
Gene
GPHN
Ensembl
ENSG00000171723
Chromosome
14
Canonical length
736 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol
Quaternary structure
Homotrimer

OverviewNCBI Gene

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

736 residues, UniProt reviewed canonical sequence.

>Q9NQX3|GPHN
     1  MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP
    61  DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL
   121  NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH
   181  DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI
   241  AAKIPDSIIS RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL
   301  RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG MGRVLAQDVY
   361  AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT QTVMPGQVMR VTTGAPIPCG
   421  ADAVVQVEDT ELIRESDDGT EELEVRILVQ ARPGQDIRPI GHDIKRGECV LAKGTHMGPS
   481  EIGLLATVGV TEVEVNKFPV VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP
   541  TINLGIVGDN PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF
   601  MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL DPRPTIIKAR
   661  LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL MSMRSANGLL MLPPKTEQYV
   721  ELHKGEVVDV MVIGRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GPHN 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)
0.34
Highest tissue expression
62 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 62 nTPM
  • liver: 58 nTPM
  • basal ganglia: 42 nTPM
  • cerebral cortex: 41 nTPM
  • hippocampal formation: 39 nTPM
  • amygdala: 37 nTPM

Single-cell type

  • podocytes: 1,785 nCPM
  • cone photoreceptor cells: 1,577 nCPM
  • breast lactating cells: 1,510 nCPM
  • proximal tubule cells: 1,433 nCPM
  • renal collecting duct intercalated cells: 1,415 nCPM
  • brain inhibitory neurons: 1,277 nCPM

Immune cell

  • MAIT T-cell: 3.2 nTPM
  • T-reg: 3 nTPM
  • memory CD4 T-cell: 2.5 nTPM
  • gdT-cell: 2 nTPM
  • naive B-cell: 1.9 nTPM
  • memory CD8 T-cell: 1.7 nTPM

Brain region

  • cerebellum: 78 nTPM
  • cerebral cortex: 67 nTPM
  • white matter: 58 nTPM
  • hypothalamus: 55 nTPM
  • basal ganglia: 52 nTPM
  • midbrain: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GPHN.

Disease | AllUniProt

Conditions GPHN is implicated in, by any mechanism.

  • Molybdenum cofactor deficiency C (MOCODC) MIM:615501

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 873 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | AutoantibodyPubMed

Conditions in which antibodies against GPHN are reported. Each links to that disease's full target list.

ReferencesPubMed · IEDB

Publications for GPHN from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

5 publications

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.18
gnomAD pLI
1
gnomAD missense Z
3.44
DepMap mean gene effect
0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 GPHN 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 GPHN as an antibody target. Whether an autoantibody or antibody against GPHN could matter depends on whether native GPHN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GPHN is annotated at the cell surface, where native GPHN 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 GPHN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GPHN. 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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