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CHN1 chimerin 1 [ Homo sapiens (human) ]

Gene ID: 1123, updated on 8-Jul-2018
Official Symbol
CHN1provided by HGNC
Official Full Name
chimerin 1provided by HGNC
Primary source
HGNC:HGNC:1943
See related
Ensembl:ENSG00000128656 MIM:118423; Vega:OTTHUMG00000154225
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NC; CHN; DURS2; ARHGAP2; RHOGAP2
Summary
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]
Expression
Biased expression in brain (RPKM 113.6), placenta (RPKM 8.8) and 1 other tissue See more
Orthologs
See CHN1 in Genome Data Viewer
Location:
2q31.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (174799314..175005379, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175664042..175870671, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 1 subunit Neighboring gene uncharacterized LOC105373750 Neighboring gene RNA, U6 small nuclear 1290, pseudogene Neighboring gene RNA, U6 small nuclear 763, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein chimerin 1 (CHN1) in cells PubMed

Go to the HIV-1, Human Interaction Database

  • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RAC1 activity, organism-specific biosystem
    Regulation of RAC1 activity
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity TAS
Traceable Author Statement
more info
 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
ephrin receptor binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ephrin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
motor neuron axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
N-chimaerin
Names
A-chimaerin
Rho GTPase-activating protein 2
a2-chimaerin
alpha-chimerin
chimaerin 1
chimerin (chimaerin) 1
n-chimerin

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012642.1 RefSeqGene

    Range
    5190..211129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025201.3NP_001020372.2  N-chimaerin isoform 2

    See identical proteins and their annotated locations for NP_001020372.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK300890, BC011393, DB453430, DB548770
    Consensus CDS
    CCDS46454.1
    UniProtKB/Swiss-Prot
    P15882
    Related
    ENSP00000386470.3, OTTHUMP00000205335, ENST00000409156.7, OTTHUMT00000334455
    Conserved Domains (3) summary
    cd10352
    Location:42128
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:240433
    RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...
    pfam00130
    Location:183232
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  2. NM_001206602.1NP_001193531.1  N-chimaerin isoform 3

    See identical proteins and their annotated locations for NP_001193531.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate promoter, and is missing several exons from the 5' end compared to variant 1. This results in a shorter isoform (3, also known as alpha 1-chimerin) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK055060, BC011393, DA307367, DB548770
    Consensus CDS
    CCDS56147.1
    UniProtKB/Swiss-Prot
    P15882
    Related
    ENSP00000295497.7, OTTHUMP00000205334, ENST00000295497.11, OTTHUMT00000334454
    Conserved Domains (2) summary
    cd04372
    Location:141334
    RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...
    pfam00130
    Location:81133
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
  3. NM_001822.5NP_001813.1  N-chimaerin isoform 1

    See identical proteins and their annotated locations for NP_001813.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as alpha 2-chimerin).
    Source sequence(s)
    BC011393, DA516095, DB548770
    Consensus CDS
    CCDS46455.1
    UniProtKB/Swiss-Prot
    P15882
    Related
    ENSP00000386741.3, OTTHUMP00000205333, ENST00000409900.7, OTTHUMT00000334453
    Conserved Domains (3) summary
    cd10352
    Location:42128
    SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins
    cd04372
    Location:266459
    RhoGAP_chimaerin; RhoGAP_chimaerin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of chimaerins. Chimaerins are a family of phorbolester- and diacylglycerol-responsive GAPs specific for the Rho-like GTPase Rac. Chimaerins exist in two ...
    pfam00130
    Location:206258
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

RNA

  1. NR_038133.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs at the 5' end compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AB209788, DB453430, DB548770
    Related
    ENST00000488080.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    174799314..175005379 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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