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FLASH GENE

Symbol

KIF1B

contributors: mct/pgu - updated : 13-04-2017

HGNC name	kinesin family member 1B
HGNC id	16636

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT2A1 Charcot-Marie-Tooth disease, axonal, type 2A1
Location	1p36.22      Physical location : 10.270.763 - 10.441.659
Synonym name	kinesin superfamily protein KIF1B
	kinesin-like protein KIF1B
Synonym symbol(s)	KLP, KIAA0591, CMT2A, KIAA1448, KF1B, FLJ23699, HMSNII, MGC134844, NBLST1, CMT2

DNA

TYPE	functioning gene
STRUCTURE	170.89 kb     47 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015074 47 - 10585 NP_055889 199 1770 in a wide variety of tissues 2008 18334619 also called KIF1B beta or variant 1 mediate transport of axonal vesicles induced apoptotic cell death deletion in primary neuroblastomas significantly correlated with advanced stages may act as a haploinsufficient tumor suppressor, and its allelic loss may be involved in the pathogenesis of neuroblastoma and other cancers familial missense mutations in neuroblastomas and pheochromocytomas and acquired loss-of-function mutation in a medulloblastoma NM_183416 21 - 7680 NP_904325 - 1153 in several tissues , testis, muscle 2008 18334619 also called KIF1B alpha or variant 2 distinct from KIF1Bbeta in the C-terminal cargo-binding domain mediating distribution of mitochondria KIAA1279 is a new binding partner that is a regulator of its transport function and thus represents a new type of kinesin interacting protein variant 3 - - 8776 isoform 3 - 1388 - 2003 12888911 also called KIF1B beta2 an amino terminal KIF1B-type motor domain followed by a tail region highly similar to that of KIF1A causative gene of Charcot-Marie-Tooth disease type 2A mediating the transport of synaptic vesicles in neuronal cells

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         Nervous brain       highly   spinal cord       highly Reproductive female system ovary       Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage
cell lines	favorable neuroblastoma cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text	brain, kidney, skeletal muscle, pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one kinesin motor domain
	one FHA domain
	one pleckstrin homology (PH) domain at C terminus, lacking a motor domain

HOMOLOGY

interspecies

homolog to murine Kf1b

intraspecies

homolog to ATSV (KIF1A)

Homologene

FAMILY	kinesin-like protein family
	UNC104 subfamily
	Kinesin-3 family

CATEGORY

motor/contractile , tumor suppressor , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION	involved in transport of synaptic vesicle precursors, in the anterograde transport of mitochondria
	kinesin superfamily member involved in the transport of organelles and vesicles
	motor proteins implicated in anterograde transport of mitochondria and synaptic vesicle precursors
	STARD13 and KIF1B are thus central components of a signalling network that guides spindle positioning, cell-cell adhesion and mitotic fidelity

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

mitochondrial transport

text	neuronal differentiation and survival

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	bound to the specific region of KIF1B (813-916 aa), but not to other kinesin family members
	XAF1 is likely a downstream target of KIF1B beta

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2A1

related resource

Mutation Database of Inherited Peripheral Neuropathies KinMutBase: A registry of disease causing mutations in tyrosine kinase domains

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in favorable subset of primary neuroblastoma tumoral     --low   in unfavorable subset of primary neuroblastoma

Susceptibility

to multiple sclerosis to hepatitis B virus (HBV)-related hepatocellular carcinoma

Variant & Polymorphism SNP	variant rs10492972 (SNP located in intron 5) associated to multiple sclerosis
	intronic SNP (rs17401966) highly associated with HBV-related HCC (

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS