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FLASH GENE

Symbol

KIFAP3

contributors: mct - updated : 07-09-2016

HGNC name	kinesin-associated protein 3
HGNC id	17060

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014970 20 - 2997 NP_055785 - 792 - 2009 19451621 NM_001204516 19 - 2879 NP_001191445 - 748 - 2009 19451621 NM_001204514 21 - 3175 NP_001191443 - 714 - 2009 19451621 NM_001204517 - - 4120 NP_001191446 - 752 - 2009 19451621

EXPRESSION

Type

widely

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 Nervous brain       highly   spinal cord         Reproductive female system uterus     highly   male system testis     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

nine Armadillo repeats

HOMOLOGY

Homologene

FAMILY

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,cytoplasm,cytoskeleton,microfilament
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	linker between CSPG6 and KIF3A/B in the nucleus
	IFT172 and KIFAP3 could regulate ciliary functions important for Hedgehog signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

complexing with CSPG6, SMC1L1 and kinesins

INTERACTION

DNA

RNA

small molecule

protein	Smg CDS protein through Armadillo repeats
	interaction with ATPase motor proteins
	TRIM60 most likely interacted with KIF3A-KIF3B independent of the adaptor kinesin-associated protein KIFAP3
	GLI1, GLI2, GLI3 interacts synergistically with KIFAP3 and KIF3A
	GLI1 interactions with KIF3A-KIF3B-KIFAP3 complexes are essential for proper GLI1 transcriptional activity
	PKP4 directly interacts with the KIF3/subunit KIF3B, and also interacts with the kinesin cargo adaptor protein KIFAP3 acting as a stabilizing linker between KIF3B and its KIFAP3 cargo binding entity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to sporadic amyotrophic lateral sclerosis (ALS)

Variant & Polymorphism SNP	associated with decreased KIFAP3 expression and increased survival in sporadic ALS
	SNP rs1541160 within the KIFAP3 gene is a potential modifier of the ALS phenotype

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS