Seroatlas · Human Serome Atlas

OPHN1

Oligophrenin-1

Also known as: ARHGAP41, MRX60, OPHN1_HUMAN, OPN1

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

Protein identityUniProt · HPA

UniProt accession
O60890
Gene
OPHN1
Ensembl
ENSG00000079482
Chromosome
X
Canonical length
802 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane

OverviewNCBI Gene

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

802 residues, UniProt reviewed canonical sequence.

>O60890|OPHN1
     1  MGHPPLEFSD CYLDSPDFRE RLKCYEQELE RTNKFIKDVI KDGNALISAM RNYSSAVQKF
    61  SQTLQSFQFD FIGDTLTDDE INIAESFKEF AELLNEVENE RMMMVHNASD LLIKPLENFR
   121  KEQIGFTKER KKKFEKDGER FYSLLDRHLH LSSKKKESQL QEADLQVDKE RHNFFESSLD
   181  YVYQIQEVQE SKKFNIVEPV LAFLHSLFIS NSLTVELTQD FLPYKQQLQL SLQNTRNHFS
   241  STREEMEELK KRMKEAPQTC KLPGQPTIEG YLYTQEKWAL GISWVKYYCQ YEKETKTLTM
   301  TPMEQKPGAK QGPLDLTLKY CVRRKTESID KRFCFDIETN ERPGTITLQA LSEANRRLWM
   361  EAMDGKEPIY HSPITKQQEM ELNEVGFKFV RKCINIIETK GIKTEGLYRT VGSNIQVQKL
   421  LNAFFDPKCP GDVDFHNSDW DIKTITSSLK FYLRNLSEPV MTYRLHKELV SAAKSDNLDY
   481  RLGAIHSLVY KLPEKNREML ELLIRHLVNV CEHSKENLMT PSNMGVIFGP TLMRAQEDTV
   541  AAMMNIKFQN IVVEILIEHF GKIYLGPPEE SAAPPVPPPR VTARRHKPIT ISKRLLRERT
   601  VFYTSSLDES EDEIQHQTPN GTITSSIEPP KPPQHPKLPI QRSGETDPGR KSPSRPILDG
   661  KLEPCPEVDV GKLVSRLQDG GTKITPKATN GPMPGSGPTK TPSFHIKRPA PRPLAHHKEG
   721  DADSFSKVRP PGEKPTIIRP PVRPPDPPCR AATPQKPEPK PDIVAGNAGE ITSSVVASRT
   781  RFFETASRKT GSSQGRLPGD ES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OPHN1 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
12 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 12 nTPM
  • amygdala: 10 nTPM
  • basal ganglia: 10 nTPM
  • retina: 9.6 nTPM
  • prostate: 9.4 nTPM
  • cervix: 6.9 nTPM

Single-cell type

  • oligodendrocyte progenitor cells: 1,264 nCPM
  • syncytiotrophoblasts: 849 nCPM
  • astrocytes: 797 nCPM
  • fibro-adipogenic progenitors: 538 nCPM
  • prostatic glandular cells: 521 nCPM
  • distal convoluted tubule cells: 424 nCPM

Immune cell

  • neutrophil: 4.1 nTPM
  • plasmacytoid DC: 1.4 nTPM
  • classical monocyte: 0.9 nTPM
  • basophil: 0.8 nTPM
  • naive B-cell: 0.6 nTPM
  • non-classical monocyte: 0.4 nTPM

Brain region

  • amygdala: 86 nTPM
  • cerebral cortex: 81 nTPM
  • basal ganglia: 78 nTPM
  • hypothalamus: 76 nTPM
  • hippocampal formation: 76 nTPM
  • midbrain: 71 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OPHN1.

Disease | AllUniProt

Conditions OPHN1 is implicated in, by any mechanism.

  • Intellectual developmental disorder, X-linked, syndromic, Billuart type (MRXSBL) MIM:300486

Disease | GeneticClinVar

84 pathogenic / likely-pathogenic of 631 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.16
gnomAD pLI
1
gnomAD missense Z
2.59
DepMap mean gene effect
0.07
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 OPHN1 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 OPHN1 as an antibody target. Whether an autoantibody or antibody against OPHN1 could matter depends on whether native OPHN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OPHN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OPHN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/OPHN1. 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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