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Protein

N-chimaerin

Gene

CHN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri205 – 255Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST51

GO - Molecular functioni

  • ephrin receptor binding Source: Ensembl
  • GTPase activator activity Source: Reactome
  • metal ion binding Source: UniProtKB-KW
  • SH3/SH2 adaptor activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionGTPase activation
Biological processNeurogenesis
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle
SignaLinkiP15882
SIGNORiP15882

Names & Taxonomyi

Protein namesi
Recommended name:
N-chimaerin
Alternative name(s):
A-chimaerin
Alpha-chimerin
N-chimerin
Short name:
NC
Rho GTPase-activating protein 2
Gene namesi
Name:CHN1
Synonyms:ARHGAP2, CHN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000128656.13
HGNCiHGNC:1943 CHN1
MIMi118423 gene
neXtProtiNX_P15882

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Duane retraction syndrome 2 (DURS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision.
See also OMIM:604356
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04794020L → F in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912792EnsemblClinVar.1
Natural variantiVAR_047941126I → M in DURS2; behaves as a dominant gain-of -function allele that increases CHN1 activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs121912793EnsemblClinVar.1
Natural variantiVAR_047942143Y → H in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912794EnsemblClinVar.1
Natural variantiVAR_047943223A → V in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912795EnsemblClinVar.1
Natural variantiVAR_047944228G → S in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs121912796EnsemblClinVar.1
Natural variantiVAR_047945252P → Q in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912797EnsemblClinVar.1
Natural variantiVAR_047946313E → K in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs121912798EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1123
GeneReviewsiCHN1
MalaCardsiCHN1
MIMi604356 phenotype
OpenTargetsiENSG00000128656
Orphaneti233 Duane retraction syndrome
PharmGKBiPA26473

Polymorphism and mutation databases

BioMutaiCHN1
DMDMi21903393

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000566942 – 459N-chimaerinAdd BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei192PhosphothreonineCombined sources1
Modified residuei340PhosphothreonineBy similarity1

Post-translational modificationi

Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP15882
MaxQBiP15882
PaxDbiP15882
PeptideAtlasiP15882
PRIDEiP15882
ProteomicsDBi53234
53235 [P15882-2]
53236 [P15882-3]

PTM databases

iPTMnetiP15882
PhosphoSitePlusiP15882

Expressioni

Tissue specificityi

In neurons in brain regions that are involved in learning and memory processes.

Developmental stagei

Increases in amount during brain development coincident with synaptogenesis.

Gene expression databases

BgeeiENSG00000128656 Expressed in 219 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_CHN1
ExpressionAtlasiP15882 baseline and differential
GenevisibleiP15882 HS

Organism-specific databases

HPAiHPA036111

Interactioni

Subunit structurei

Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation.By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107547, 12 interactors
DIPiDIP-42177N
IntActiP15882, 8 interactors
MINTiP15882
STRINGi9606.ENSP00000386741

Structurei

Secondary structure

1459
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP15882
SMRiP15882
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15882

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 135SH2PROSITE-ProRule annotationAdd BLAST87
Domaini268 – 459Rho-GAPPROSITE-ProRule annotationAdd BLAST192

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri205 – 255Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST51

Keywords - Domaini

SH2 domain, Zinc-finger

Phylogenomic databases

eggNOGiKOG1453 Eukaryota
ENOG410YM3I LUCA
GeneTreeiENSGT00920000148945
HOGENOMiHOG000231926
HOVERGENiHBG080489
InParanoidiP15882
KOiK20630
OMAiREPAYQK
OrthoDBiEOG091G0834
PhylomeDBiP15882
TreeFamiTF342052

Family and domain databases

CDDicd00029 C1, 1 hit
cd04372 RhoGAP_chimaerin, 1 hit
cd10352 SH2_a2chimerin_b2chimerin, 1 hit
Gene3Di1.10.555.10, 1 hit
3.30.505.10, 1 hit
InterProiView protein in InterPro
IPR035840 Chimaerin_SH2
IPR017356 CHN1/CHN2
IPR020454 DAG/PE-bd
IPR002219 PE/DAG-bd
IPR008936 Rho_GTPase_activation_prot
IPR037860 RhoGAP_chimaerin
IPR000198 RhoGAP_dom
IPR000980 SH2
IPR036860 SH2_dom_sf
PfamiView protein in Pfam
PF00130 C1_1, 1 hit
PF00620 RhoGAP, 1 hit
PF00017 SH2, 1 hit
PIRSFiPIRSF038015 N-chimaerin, 1 hit
PRINTSiPR00008 DAGPEDOMAIN
SMARTiView protein in SMART
SM00109 C1, 1 hit
SM00324 RhoGAP, 1 hit
SM00252 SH2, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
SSF55550 SSF55550, 1 hit
PROSITEiView protein in PROSITE
PS50238 RHOGAP, 1 hit
PS50001 SH2, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.iShow all

Isoform Alpha-2 (identifier: P15882-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALTLFDTDE YRPPVWKSYL YQLQQEAPHP RRITCTCEVE NRPKYYGREF
60 70 80 90 100
HGMISREAAD QLLIVAEGSY LIRESQRQPG TYTLALRFGS QTRNFRLYYD
110 120 130 140 150
GKHFVGEKRF ESIHDLVTDG LITLYIETKA AEYIAKMTIN PIYEHVGYTT
160 170 180 190 200
LNREPAYKKH MPVLKETHDE RDSTGQDGVS EKRLTSLVRR ATLKENEQIP
210 220 230 240 250
KYEKIHNFKV HTFRGPHWCE YCANFMWGLI AQGVKCADCG LNVHKQCSKM
260 270 280 290 300
VPNDCKPDLK HVKKVYSCDL TTLVKAHTTK RPMVVDMCIR EIESRGLNSE
310 320 330 340 350
GLYRVSGFSD LIEDVKMAFD RDGEKADISV NMYEDINIIT GALKLYFRDL
360 370 380 390 400
PIPLITYDAY PKFIESAKIM DPDEQLETLH EALKLLPPAH CETLRYLMAH
410 420 430 440 450
LKRVTLHEKE NLMNAENLGI VFGPTLMRSP ELDAMAALND IRYQRLVVEL

LIKNEDILF
Length:459
Mass (Da):53,172
Last modified:July 11, 2002 - v3
Checksum:i04C4CC9BCC611389
GO
Isoform Alpha-1 (identifier: P15882-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-183: MALTLFDTDE...TGQDGVSEKR → MPSKESWSGR...QPLKLFAYSQ

Show »
Length:334
Mass (Da):38,196
Checksum:i2E5BF139A231D13C
GO
Isoform 3 (identifier: P15882-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     184-209: Missing.

Note: No experimental confirmation available.
Show »
Length:433
Mass (Da):50,034
Checksum:iEB3E22E1C704D1BF
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZ96B8ZZ96_HUMAN
N-chimaerin
CHN1
275Annotation score:
C9J3V9C9J3V9_HUMAN
N-chimaerin
CHN1
185Annotation score:
C9JR98C9JR98_HUMAN
N-chimaerin
CHN1
186Annotation score:
C9J1N1C9J1N1_HUMAN
N-chimaerin
CHN1
164Annotation score:
C9J3G1C9J3G1_HUMAN
N-chimaerin
CHN1
173Annotation score:
F8W6K2F8W6K2_HUMAN
N-chimaerin
CHN1
194Annotation score:
F8WCQ9F8WCQ9_HUMAN
N-chimaerin
CHN1
22Annotation score:
F8WAY4F8WAY4_HUMAN
N-chimaerin
CHN1
23Annotation score:

Sequence cautioni

The sequence CAA35769 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04794020L → F in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912792EnsemblClinVar.1
Natural variantiVAR_047941126I → M in DURS2; behaves as a dominant gain-of -function allele that increases CHN1 activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs121912793EnsemblClinVar.1
Natural variantiVAR_047942143Y → H in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912794EnsemblClinVar.1
Natural variantiVAR_047943223A → V in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912795EnsemblClinVar.1
Natural variantiVAR_047944228G → S in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs121912796EnsemblClinVar.1
Natural variantiVAR_047945252P → Q in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro; appears to enhance membrane translocation and CHN1 activity by destabilizing the closed conformation of CHN1 protein in response to phorbol 12-myristate 13-acetate (PMA). 1 PublicationCorresponds to variant dbSNP:rs121912797EnsemblClinVar.1
Natural variantiVAR_047946313E → K in DURS2; behaves as a dominant gain-of-function allele that increases CHN1 activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs121912798EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0016361 – 183MALTL…VSEKR → MPSKESWSGRKTNRAAVHKS KQEGRQQDLLIAALGMKLGS PKSSVTIWQPLKLFAYSQ in isoform Alpha-1. 2 PublicationsAdd BLAST183
Alternative sequenceiVSP_043297184 – 209Missing in isoform 3. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X51408 mRNA Translation: CAA35769.1 Different initiation.
Z22641 mRNA Translation: CAA80354.1
AK055060 mRNA Translation: BAG51458.1
AK289941 mRNA Translation: BAF82630.1
AK300890 mRNA Translation: BAG62531.1
AC007435 Genomic DNA No translation available.
AC018890 Genomic DNA Translation: AAY14688.1
AC020596 Genomic DNA Translation: AAY14940.1
CH471058 Genomic DNA Translation: EAX11117.1
CH471058 Genomic DNA Translation: EAX11118.1
CH471058 Genomic DNA Translation: EAX11119.1
BC011393 mRNA Translation: AAH11393.1
S75654 Genomic DNA Translation: AAB33506.1
CCDSiCCDS46454.1 [P15882-3]
CCDS46455.1 [P15882-1]
CCDS56147.1 [P15882-2]
PIRiA48090
I53329
RefSeqiNP_001020372.2, NM_001025201.3 [P15882-3]
NP_001193531.1, NM_001206602.1 [P15882-2]
NP_001813.1, NM_001822.5 [P15882-1]
UniGeneiHs.380138

Genome annotation databases

EnsembliENST00000295497; ENSP00000295497; ENSG00000128656 [P15882-2]
ENST00000409156; ENSP00000386470; ENSG00000128656 [P15882-3]
ENST00000409900; ENSP00000386741; ENSG00000128656 [P15882-1]
GeneIDi1123
KEGGihsa:1123
UCSCiuc002ujg.4 human [P15882-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X51408 mRNA Translation: CAA35769.1 Different initiation.
Z22641 mRNA Translation: CAA80354.1
AK055060 mRNA Translation: BAG51458.1
AK289941 mRNA Translation: BAF82630.1
AK300890 mRNA Translation: BAG62531.1
AC007435 Genomic DNA No translation available.
AC018890 Genomic DNA Translation: AAY14688.1
AC020596 Genomic DNA Translation: AAY14940.1
CH471058 Genomic DNA Translation: EAX11117.1
CH471058 Genomic DNA Translation: EAX11118.1
CH471058 Genomic DNA Translation: EAX11119.1
BC011393 mRNA Translation: AAH11393.1
S75654 Genomic DNA Translation: AAB33506.1
CCDSiCCDS46454.1 [P15882-3]
CCDS46455.1 [P15882-1]
CCDS56147.1 [P15882-2]
PIRiA48090
I53329
RefSeqiNP_001020372.2, NM_001025201.3 [P15882-3]
NP_001193531.1, NM_001206602.1 [P15882-2]
NP_001813.1, NM_001822.5 [P15882-1]
UniGeneiHs.380138

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OSAX-ray1.80A260-459[»]
3CXLX-ray2.60A15-459[»]
ProteinModelPortaliP15882
SMRiP15882
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107547, 12 interactors
DIPiDIP-42177N
IntActiP15882, 8 interactors
MINTiP15882
STRINGi9606.ENSP00000386741

PTM databases

iPTMnetiP15882
PhosphoSitePlusiP15882

Polymorphism and mutation databases

BioMutaiCHN1
DMDMi21903393

Proteomic databases

EPDiP15882
MaxQBiP15882
PaxDbiP15882
PeptideAtlasiP15882
PRIDEiP15882
ProteomicsDBi53234
53235 [P15882-2]
53236 [P15882-3]

Protocols and materials databases

DNASUi1123
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295497; ENSP00000295497; ENSG00000128656 [P15882-2]
ENST00000409156; ENSP00000386470; ENSG00000128656 [P15882-3]
ENST00000409900; ENSP00000386741; ENSG00000128656 [P15882-1]
GeneIDi1123
KEGGihsa:1123
UCSCiuc002ujg.4 human [P15882-1]

Organism-specific databases

CTDi1123
DisGeNETi1123
EuPathDBiHostDB:ENSG00000128656.13
GeneCardsiCHN1
GeneReviewsiCHN1
HGNCiHGNC:1943 CHN1
HPAiHPA036111
MalaCardsiCHN1
MIMi118423 gene
604356 phenotype
neXtProtiNX_P15882
OpenTargetsiENSG00000128656
Orphaneti233 Duane retraction syndrome
PharmGKBiPA26473
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1453 Eukaryota
ENOG410YM3I LUCA
GeneTreeiENSGT00920000148945
HOGENOMiHOG000231926
HOVERGENiHBG080489
InParanoidiP15882
KOiK20630
OMAiREPAYQK
OrthoDBiEOG091G0834
PhylomeDBiP15882
TreeFamiTF342052

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle
SignaLinkiP15882
SIGNORiP15882

Miscellaneous databases

ChiTaRSiCHN1 human
EvolutionaryTraceiP15882
GenomeRNAii1123
PROiPR:P15882
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128656 Expressed in 219 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_CHN1
ExpressionAtlasiP15882 baseline and differential
GenevisibleiP15882 HS

Family and domain databases

CDDicd00029 C1, 1 hit
cd04372 RhoGAP_chimaerin, 1 hit
cd10352 SH2_a2chimerin_b2chimerin, 1 hit
Gene3Di1.10.555.10, 1 hit
3.30.505.10, 1 hit
InterProiView protein in InterPro
IPR035840 Chimaerin_SH2
IPR017356 CHN1/CHN2
IPR020454 DAG/PE-bd
IPR002219 PE/DAG-bd
IPR008936 Rho_GTPase_activation_prot
IPR037860 RhoGAP_chimaerin
IPR000198 RhoGAP_dom
IPR000980 SH2
IPR036860 SH2_dom_sf
PfamiView protein in Pfam
PF00130 C1_1, 1 hit
PF00620 RhoGAP, 1 hit
PF00017 SH2, 1 hit
PIRSFiPIRSF038015 N-chimaerin, 1 hit
PRINTSiPR00008 DAGPEDOMAIN
SMARTiView protein in SMART
SM00109 C1, 1 hit
SM00324 RhoGAP, 1 hit
SM00252 SH2, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
SSF55550 SSF55550, 1 hit
PROSITEiView protein in PROSITE
PS50238 RHOGAP, 1 hit
PS50001 SH2, 1 hit
PS00479 ZF_DAG_PE_1, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCHIN_HUMAN
AccessioniPrimary (citable) accession number: P15882
Secondary accession number(s): A8K1M6
, B3KNU6, B4DV19, Q53SD6, Q53SH5, Q96FB0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: July 11, 2002
Last modified: September 12, 2018
This is version 194 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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