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FLASH GENE

Symbol

GAN

contributors: mct/npt - updated : 09-07-2009

HGNC name	gigaxonin
HGNC id	4137

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	65.23 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

Map	cen - GCSH - KIAA0431 - D16S3098 - D16S505 - qter
Authors	Bomont (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 11 - 4544 isoform 1 - 597 - Bomont (2000)

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 esophagus       highly Nervous brain         Reproductive female system breast mammary gland   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal BTB/POZ domain (broad complex, tramtrack and bric a brac) domain
	six kelch repeats which are predicted to adopt a beta-propeller shape

HOMOLOGY

Homologene

FAMILY

BTB/Kelch family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament

basic FUNCTION	putative link between actin and intermediate filaments
	playing a role in neurofilament architecture
	controls protein degradation, and is essential for neuronal function and survival
	ubiquitin scaffolding protein that controls MAP1B-LC degradation
	play an important role in cytoskeletal functions and dynamics by directing ubiquitin-mediated degradations of cytoskeletal proteins (Yang 2007)
	playing an an essential role in neuronal maintenance (Cleveland 2009)
	controls vimentin organization through a tubulin chaperone-independent pathway (Cleveland 2009)

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

substrate adaptor for an E3 ubiquitin ligase, which affects proteasome-dependent degradation of microtubule-related proteins including MAP1B, MAP8 and the tubulin folding chaperone TBCB (Cleveland 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GAN

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS