KIF1A (kinesin family member 1A)

2015-02-01  

Identity

HGNC
KIF1A
LOCATION
2q37.3
LOCUSID
547
ALIAS
ATSV,C2orf20,HSN2C,MRD9,NESCAVS,SPG30,UNC104
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 547
MIM: 601255
HGNC: 888
Ensembl: ENSG00000130294

Variants:

dbSNP: 547
ClinVar: 547
TCGA: ENSG00000130294
COSMIC: KIF1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130294ENST00000320389A0A3F2YNW9
ENSG00000130294ENST00000404283Q12756
ENSG00000130294ENST00000428768H7C0K6
ENSG00000130294ENST00000431776H7C3Y8
ENSG00000130294ENST00000448728C9JBH1
ENSG00000130294ENST00000498729Q12756
ENSG00000130294ENST00000647572A0A3B3ITW4
ENSG00000130294ENST00000647731A0A3B3IUA1
ENSG00000130294ENST00000647885A0A3B3ITF7
ENSG00000130294ENST00000648047A0A3B3ITK3
ENSG00000130294ENST00000648129A0A3B3ITW6
ENSG00000130294ENST00000648364A0A3B3IU40
ENSG00000130294ENST00000648680A0A3B3IT28
ENSG00000130294ENST00000649096Q12756
ENSG00000130294ENST00000649306A0A3B3ITE5
ENSG00000130294ENST00000650053Q12756
ENSG00000130294ENST00000650130A0A3B3ITW6

Expression (GTEx)

0
50
100
150
200
250
300
350
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

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
KinesinsREACTOMER-HSA-983189
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

References

Pubmed IDYearTitleCitations
214870762011Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.57
218200982011KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.57
169467062006High-resolution cryo-EM maps show the nucleotide binding pocket of KIF1A in open and closed conformations.43
222585332012KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.41
252652572015De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.37
201625722010KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses.35
234047052013In vivo optical trapping indicates kinesin's stall force is reduced by dynein during intracellular transport.34
278519602016BORC Functions Upstream of Kinesins 1 and 3 to Coordinate Regional Movement of Lysosomes along Different Microtubule Tracks.33
124357382003Characterization of the movement of the kinesin motor KIF1A in living cultured neurons.28
150144372004An intramolecular interaction between the FHA domain and a coiled coil negatively regulates the kinesin motor KIF1A.28

Citation

Dessen P

KIF1A (kinesin family member 1A)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55077/kif1a