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FLASH GENE

Symbol

KIF1C

contributors: mct/npt/shn - updated : 28-12-2018

HGNC name	kinesin family member 1C
HGNC id	6317

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPAX2 spastic ataxia 2
Location	17p13.2      Physical location : 4.901.242 - 4.931.693
Synonym name	cDNA sequence, expressed in brain, 80kDa, kinesin-like motor protein KIF1 c
	LTXS1 mouse homolog of
	kinesin-like protein KIF1C
Synonym symbol(s)	KIAA0706, LTXS1, SAX2, SPAX2, SPG58, ORCH3

DNA

TYPE	functioning gene
STRUCTURE	26.72 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
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	pter - D17S1828 - D17S1584 - KIF1C - D17S1810 - D17S1854 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006612 23 - 7935 NP_006603 135 1103 - - 9685376

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 Cardiovascular heart       highly Homo sapiens Adult NM_006612 Digestive liver       lowly Homo sapiens Adult NM_006612 Endocrine pancreas       moderately Homo sapiens Adult NM_006612 Nervous brain       lowly Homo sapiens Adult NM_006612 Reproductive female system placenta     moderately Homo sapiens Adult NM_006612 Respiratory lung       lowly Homo sapiens Adult NM_006612

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens Adult NM_006612

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a FHA domain
	N terminal motor domain
	PTPD-binding domain

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to murine Kif1c
	homolog to C.elegans M116.5

intraspecies

homolog to kinesin-like motor protein KIF1 c

Homologene

FAMILY

Kinesin-3 family

CATEGORY

motor/contractile , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytoskeleton,microtubule
text	Golgi apparatus and endoplasmic reticulum

basic FUNCTION	act as microtubule-based molecular motors involved in intracellular transport
	podosome regulation
	microtubule motor KIF1C contributes to persistent cell migration primarily through stabilization of an extended cell rear
	may likely be involved in transport around the Golgi apparatus rather than only Golgi-to-ER transport
	the kinesin KIF1C is known to regulate podosomes, actin-rich adhesion structures that remodel the extracellular matrix during physiological processes
	KIF1C is a player in the podosome-inducing signaling cascade
	KIF1C can protect Golgi membranes from fragmentation in cells lacking an intact microtubule network
	KIF1A or KIF1C must have an effect on the cycle of division before differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PTPD1
	transports RAB6A-vesicles and can influence Golgi complex organization
	RAB6A binding to the motor domain inhibits microtubule interaction and in cells, decreasing the amount of motile KIF1C

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPAX2

Susceptibility

to autoimmune orchitis

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	kif1C(-/-) mice are viable and showed no obvious abnormalities
	no significant difference in the distribution of the Golgi apparatus or in the transport from the Golgi apparatus to the endoplasmic reticulum in fibroblasts from kif1C(-/-) mice
	Expression of mutation constructs or small interfering RNA-/short hairpin RNA-based depletion of KIF1C resulted in decreased podosome dynamics and ultimately in podosome deficiency