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FLASH GENE

Symbol

CHN1

contributors: mct - updated : 15-11-2016

HGNC name	chimerin (chimaerin) 1
HGNC id	1943

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pharynx       highly Endocrine neuroendocrine pituitary     highly Nervous brain hindbrain cerebellum   highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal SH2 domain
	a C terminal GAP domain and the phospho ester-binding region
	one zinc dependent phorbol-ester and DAG binding domain

HOMOLOGY

interspecies

homolog to c47d12.4

Homologene

FAMILY

CATEGORY

signaling neurotransmitter

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	GTPase-activating proteins that inactivate the GTP-hydrolase Rac1 in a diacylglycerol-dependent manner
	brain GTPase activating protein for the ras-related p21rac
	having a regulatory function in actin repolymerization
	has a critical developmental function in ocular motor axon pathfinding
	is implicated in axon guidance events downstream of ephrin receptor signaling
	is a key regulator of cortical neuronal migration and function
	may act as an intermediate to balance and interpret positive and negative guidance cues in the ocular motor system
	is potentially a unique integrator of guidance cues in motor neuron pathfinding
	a correct level of CHN1 signaling is required for key oculomotor axon guidance decisions
	acts during development to establish normal cognitive ability in adulthood
	is required for Eph receptor-class-specific spinal motor axon guidance and coordinate activation of antagonistic muscles
	CHN1 signaling in developmental stages contributes to determination of the morphological features of adult spines and establishment of normal cognitive ability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with CDK5
	CHN1 regulates bipolar transition and neuronal migration through modulating the activity of DPYSL2, a microtubule-associated protein
	is critical in the pathfinding of oculomotor neurons as a downstream component of the SEMA3A/PLXNA repellent signaling pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DURS2 , DEL2Q31

Susceptibility

Variant & Polymorphism

Candidate gene	for the downmodulation of Rac1 in T-lymphocytes
Marker
Therapy target

ANIMAL & CELL MODELS