Description: Homo sapiens chimerin 1 (CHN1), transcript variant 1, mRNA. RefSeq Summary (NM_001822): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Transcript (Including UTRs) Position: hg19 chr2:175,664,042-175,869,981 Size: 205,940 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr2:175,664,844-175,869,640 Size: 204,797 Coding Exon Count: 13
ID:CHIN_HUMAN DESCRIPTION: RecName: Full=N-chimaerin; AltName: Full=A-chimaerin; AltName: Full=Alpha-chimerin; AltName: Full=N-chimerin; Short=NC; AltName: Full=Rho GTPase-activating protein 2; FUNCTION: 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. SUBUNIT: Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation (By similarity). TISSUE SPECIFICITY: In neurons in brain regions that are involved in learning and memory processes. DEVELOPMENTAL STAGE: Increases in amount during brain development coincident with synaptogenesis. PTM: Phosphorylated. Phosphorylation is EPHA4 kinase activity- dependent (By similarity). DISEASE: Defects in CHN1 are the cause of Duane retraction syndrome type 2 (DURS2) [MIM:604356]. Duane retraction syndrome is 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, and 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. SIMILARITY: Contains 1 phorbol-ester/DAG-type zinc finger. SIMILARITY: Contains 1 Rho-GAP domain. SIMILARITY: Contains 1 SH2 domain. SEQUENCE CAUTION: Sequence=CAA35769.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15882
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007165 signal transduction GO:0007399 nervous system development GO:0008045 motor neuron axon guidance GO:0009967 positive regulation of signal transduction GO:0035556 intracellular signal transduction GO:0043087 regulation of GTPase activity GO:0043547 positive regulation of GTPase activity GO:0048013 ephrin receptor signaling pathway GO:0050770 regulation of axonogenesis GO:0051056 regulation of small GTPase mediated signal transduction
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