Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

KIF5C

contributors: shn/npt/pgu - updated : 08-11-2015

HGNC name	kinesin family member 5C
HGNC id	6325

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDCBM2 cortical dysplasia, complex, with other brain malformations 2
Location	2q23.3      Physical location : 149.632.818 - 149.883.273
Synonym name	kinesin, heavy chain, neuron specific
Synonym symbol(s)	KINN, NKHC, NKHC2, NKHC-2, FLJ44735, KIAA0531, MGC111478, CDCBM2

DNA

TYPE	functioning gene
STRUCTURE	242.23 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D2S2335 - D2S2184 - KIF5C - D2S2324 - D2S2277 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004522.1 25 - 6927 NP_004513 100 957 - 1998 9628581

EXPRESSION

Type	restricted

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           nerve

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a kinesin motor catalytic domain
	a GRIF-1 binding domain
	a large globular N- terminal domain responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule)
	a central alpha-helical coiled coil domain mediating the heavy chain dimerization
	a phosphorylation site for CSNK2A1 mapped to AA 338 located in the non-motor domain (threonine 338, within the alpha-helical coiled-coil domain which is called the neck domain is the major phosphorylation site for CSNK2A1)
	a small globular C-terminal domain which interacts with other proteins, C-terminal EYFP-tagged KIF5C, non-motor domain

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	ortholog to Kif5c, Rattus norvegicus
	ortholog to Kif5c, Mus musculus
	ortholog to KIF5C, Pan troglodytes
	ortholog to CH211-157C24.3, Danio rerio

intraspecies

paralog to KIF5A and KIF5B

Homologene

FAMILY

kinesin-like protein family

CATEGORY

structural protein , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	function as adaptors in the anterograde trafficking of organelles to synapses
	maintenance of motor neurons
	microtubule-associated force-producing protein that may play a role in organelle transport
	motor proteins which transport specific cargoes along the microtubules
	complex of KIF5C, KLC1 and CRMP2 is involved in transporting tubulin heterodimers and oligomers to the tip of the growing axon
	imposes restrictions on the growth of the axon and does so at least in part by generating forces on the axonal microtubule array
	KIF5C is a new binding partner for CSNK2A2, CSNK2A1
	kinesin motor for apical trafficking of both raft-associated sucrase isomaltase and raft-independent neurotrophin receptor
	is involved in the passage of apical cargo molecules to a post-Golgi endosomal compartment, where further segregation into distinct vesicle populations proceeds

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

nervous system , cellular trafficking transport

PATHWAY

metabolism

signaling

a component

oligomer composed of two heavy chains and two light chains

INTERACTION

DNA

RNA

small molecule

protein	trafficking protein kinesin binding TRAK1, trafficking protein kinesin binding 2 (TRAK2) and kinesin light chain 3 (KLC3)
	substrate for CSNK2A1 (phosphorylated by CSNK2A1, phosphorylation that will influence the dimerization of KIF5C)
	kinesin light chain 1 (KlC1) and collapsin response mediator protein 2 (CRMP2)
	interacts with adjacent microtubules in the mitotic spindle
	endogenously bind the full-length variant of VHL (pVHL30) in primary kidney cells, and mediate its association to microtubules
	ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (PLP1), atlastin-1 (ATL1), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C

cell & other

associated with microtubules

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDCBM2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in sporadic amyotrophic lateral sclerosis, (SALS)and dependent of age

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS