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    CHN1 chimerin 1 [ Homo sapiens (human) ]

    Gene ID: 1123, updated on 7-May-2017
    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]
    Orthologs
    Location:
    2q31.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    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
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      175670072..175876103 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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