KIF1B (kinesin family member 1B)

2007-02-01 Affiliation

Identity

HGNC

KIF1B

LOCATION

1p36.22

LOCUSID

23095

ALIAS

CMT2,CMT2A,CMT2A1,HMSNII,KLP,NBLST1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23095
MIM: 605995
HGNC: 16636
Ensembl: ENSG00000054523

Variants:

dbSNP: 23095
ClinVar: 23095
TCGA: ENSG00000054523
COSMIC: KIF1B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000054523	ENST00000263934	O60333
ENSG00000054523	ENST00000377081	O60333
ENSG00000054523	ENST00000377083	O60333
ENSG00000054523	ENST00000377086	O60333
ENSG00000054523	ENST00000377093	O60333
ENSG00000054523	ENST00000620295	Q4R9M9
ENSG00000054523	ENST00000622724	A0A087WWA3
ENSG00000054523	ENST00000635499	A0A0U1RQL3

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Factors involved in megakaryocyte development and platelet production	REACTOME	R-HSA-983231
Kinesins	REACTOME	R-HSA-983189
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Golgi-to-ER retrograde transport	REACTOME	R-HSA-8856688
COPI-dependent Golgi-to-ER retrograde traffic	REACTOME	R-HSA-6811434

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20676096	2010	Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.	115
18334619	2008	The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.	98
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18997785	2008	Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.	58
18997785	2008	Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.	58
18614535	2008	KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death.	36
18726616	2008	A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors.	36
11835375	2002	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.	33
27851960	2016	BORC Functions Upstream of Kinesins 1 and 3 to Coordinate Regional Movement of Lysosomes along Different Microtubule Tracks.	33
20190806	2010	Bmi1 is a MYCN target gene that regulates tumorigenesis through repression of KIF1Bbeta and TSLC1 in neuroblastoma.	26

Citation

Dessen P

KIF1B (kinesin family member 1B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46043/kif1b