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
362820362024KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.0
362820362024KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.0
366557642023Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.7
369729352023[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].1
370015732023Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.0
376682352023[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].0
381056872023Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.0
366557642023Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.7
369729352023[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].1
370015732023Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.0
376682352023[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].0
381056872023Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.0
344872322022Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.9
350333532022KLF5 promotes KIF1A expression through transcriptional repression of microRNA-338 in the development of pediatric neuroblastoma.2
351326562022A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.8

Citation

Dessen P

KIF1A (kinesin family member 1A)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55077/css/lib/meetings/