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OPHN1

GENERAL INFORMATION

Gene name

 OPHN1

Gene description

 Oligophrenin 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General ctyoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA002919
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 OPHN1 (HGNC Symbol)

Synonyms

 ARHGAP41, MRX60, OPN1

Description

 Oligophrenin 1 (HGNC Symbol)

Entrez gene summary

 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 mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

Chromosome

 X

Cytoband

 q12

Chromosome location (bp)

 68042344 - 68433913

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000079482 (version 83.38)

Entrez gene

 4983

UniProt

 O60890 (UniProt - Evidence at protein level)

neXtProt

 NX_O60890

Antibodypedia

 OPHN1 antibodies

PROTEIN BROWSER
OPHN1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OPHN1-001
ENSP00000347710
ENST00000355520
O60890 [Direct mapping]
Oligophrenin-1
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Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005543 [phospholipid binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006930 [substrate-dependent cell migration, cell extension]
GO:0007165 [signal transduction]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007399 [nervous system development]
GO:0007411 [axon guidance]
GO:0015629 [actin cytoskeleton]
GO:0030036 [actin cytoskeleton organization]
GO:0030054 [cell junction]
GO:0030100 [regulation of endocytosis]
GO:0030425 [dendrite]
GO:0035255 [ionotropic glutamate receptor binding]
GO:0043195 [terminal bouton]
GO:0043197 [dendritic spine]
GO:0043547 [positive regulation of GTPase activity]
GO:0048488 [synaptic vesicle endocytosis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051966 [regulation of synaptic transmission, glutamatergic]
GO:1901799 [negative regulation of proteasomal protein catabolic process]
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 802 aa
91.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.