chn1 chimerin 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: chn1provided by ZNC
Official Full Name: chimerin 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1934
See related: Ensembl:ENSDARG00000101735 AllianceGenome:ZFIN:ZDB-GENE-040426-1934
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: chimaerin; zgc:56160; zgc:92906; wu:fr89a09
Summary: Enables GTPase activator activity and phorbol ester receptor activity. Acts upstream of or within oculomotor nerve formation and positive regulation of GTPase activity. Is expressed in several structures, including central nervous system; digestive system; integument; pharyngeal arch; and testis. Human ortholog(s) of this gene implicated in Duane retraction syndrome. Orthologous to human CHN1 (chimerin 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 9

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (2393397..2484043)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (2531034..2562217)
105	previous assembly	GRCz10 (GCF_000002035.5)	Unplaced Scaffold	NW_008805554.1 (799..10834, complement)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
Title: Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
These findings demonstrate that a correct level of alpha2-chimaerin signaling is required for key oculomotor axon guidance decisions, and provide a zebrafish model for Duane Retraction Syndrome.
Title: α2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection.

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phorbol ester receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in motor neuron axon guidance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within oculomotor nerve formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: N-chimaerin

Names: alpha chimerin; chimerin (chimaerin) 1; z-chimaerin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_213000.1 → NP_998165.1 N-chimaerin

See identical proteins and their annotated locations for NP_998165.1

Status: PROVISIONAL

Source sequence(s)

BC047837

UniProtKB/TrEMBL

A0A0R4IBJ7, B2GQC2, Q7ZUT6

Related

ENSDARP00000130201.2, ENSDART00000172624.3

Conserved Domains (3) summary

cd10352
Location:42 → 128

SH2_a2chimerin_b2chimerin; Src homology 2 (SH2) domain found in alpha2-chimerin and beta2-chimerin proteins

cd04372
Location:266 → 459

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:206 → 258

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)