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FLASH GENE

Symbol

KIF1A

contributors: mct/npt/shn - updated : 03-05-2015

HGNC name	kinesin family member 1A
HGNC id	888

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	106.44 kb     47 Exon(s)

regulatory sequence
text structure	conserved essential regulatory element in the kinesin-1 tail interacts directly and specifically with the enzymatically critical Switch I region of the head

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D2S125 - D2S395 - KIF1A - D2S140 - D2S2585 - qter

regionally located

previously mapped to 9q34

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004321 47 - 8843 NP_004312 - 1690 - 2004 15014437

EXPRESSION

Type

widely

constitutive of

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 nerve       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal globular domain
	a forkhead-associated (FHA) domain
	a motor domain
	an ATP and the microtubule binding sites
	a long alpa-helical coiled-coil region (CC2, stalk region), involved in dimerization
	a small C terminal domain, potentially involved in interaction with other proteins, vesicles or organelles

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to Kif1a, Mus musculus
	ortholog to Kif1a, Rattus norvegicus
	ortholog to kif1a, Danio rerio
	ortholog to KIF1A, Pan troglodytes

Homologene

FAMILY

kinesin 3 family

CATEGORY

motor/contractile , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	axonal synaptic vesicles

basic FUNCTION	axonal transporter of synaptic vesicles
	microtubule associated motor protein
	the fast anterograd transporter in axons
	involved in nuclear migration and neurogenesis, suggesting a cell cycle-dependent switch between distinct microtubule motors driving interkinetic nuclear migration
	remains associated with Dense-core vesicles (DCVs) during retrograde DCV transport, in hippocampal neurons
	is indispensable for BDNF-mediated hippocampal synaptogenesis and learning enhancement induced by enrichment
	plays prominent roles in axonal transport and synaptogenesis
	KIF1A or KIF1C must have an effect on the cycle of division before differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	anterograde motor protein that transports membranous organelles along axonal microtubules

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	Liprin-alpha/SYD-2
	intramolecular interaction in KIF1A between the forkhead-associated (FHA) domain and a coiled-coil domain (CC2)
	Herpes simplex virus type 2 membrane protein UL56
	DCX is essential for the function of KIF1a, a kinesin-3 motor protein that traffics synaptic vesicles
	DCLK1 guides KIF1A-mediated cargo transport to dendrites

cell & other

REGULATION

inhibited by

intramolecular interaction between the FHA domain and a coiled coil domain (CC2)

ASSOCIATED DISORDERS

corresponding disease(s)

DEL2Q37 , SPG30 , HSN2C , MRD9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by promoter methylation, associated with breast cancer and inversely associated with DNA repair capacity (DRC)

Susceptibility

Variant & Polymorphism

Candidate gene	for autism/behaviordisorder/eczema in the del2q37 syndrome
Marker
Therapy target

ANIMAL & CELL MODELS