CHN1

Protein identityUniProt · HPA

UniProt accession

P15882

Gene

CHN1

Ensembl

ENSG00000128656

Chromosome

2

Canonical length

459 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

Canonical amino-acid sequenceUniProt

459 residues, UniProt reviewed canonical sequence.

>P15882|CHN1
     1  MALTLFDTDE YRPPVWKSYL YQLQQEAPHP RRITCTCEVE NRPKYYGREF HGMISREAAD
    61  QLLIVAEGSY LIRESQRQPG TYTLALRFGS QTRNFRLYYD GKHFVGEKRF ESIHDLVTDG
   121  LITLYIETKA AEYIAKMTIN PIYEHVGYTT LNREPAYKKH MPVLKETHDE RDSTGQDGVS
   181  EKRLTSLVRR ATLKENEQIP KYEKIHNFKV HTFRGPHWCE YCANFMWGLI AQGVKCADCG
   241  LNVHKQCSKM VPNDCKPDLK HVKKVYSCDL TTLVKAHTTK RPMVVDMCIR EIESRGLNSE
   301  GLYRVSGFSD LIEDVKMAFD RDGEKADISV NMYEDINIIT GALKLYFRDL PIPLITYDAY
   361  PKFIESAKIM DPDEQLETLH EALKLLPPAH CETLRYLMAH LKRVTLHEKE NLMNAENLGI
   421  VFGPTLMRSP ELDAMAALND IRYQRLVVEL LIKNEDILF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHN1 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)

0.31

Highest tissue expression

843 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHN1.

Disease | AllUniProt

Conditions CHN1 is implicated in, by any mechanism.

• Duane retraction syndrome 2 (DURS2) MIM:604356

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 153 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Duane retraction syndrome 2
• Autosomal dominant Robinow syndrome 2
• Oromandibular-limb hypogenesis spectrum

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)

0.57

gnomAD pLI

0.03

gnomAD missense Z

1.27

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ephrin receptor signaling pathway
• motor neuron axon guidance
• regulation of axonogenesis
• regulation of small GTPase mediated signal transduction

Molecular functions

• ephrin receptor binding
• GTPase activator activity
• zinc ion binding

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Rho GTPase-activating protein domain
• SH2 domain
• Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
• Rho GTPase activation protein
• Chimaerin
• Diacylglycerol/phorbol-ester binding
• Chimaerin, SH2 domain
• SH2 domain superfamily
• Chimaerin, RhoGAP domain
• C1-like domain superfamily
• Rho-type GTPase-activating protein
• SH2 domain
• Phorbol esters/diacylglycerol binding domain (C1 domain)
• RhoGAP domain

KeywordsUniProt

• Acetylation
• GTPase activation
• Metal-binding
• Neurogenesis
• Phosphoprotein
• SH2 domain
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of CHN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EPHA4