KIF1A (kinesin family member 1A)

2015-02-01 Affiliation

Identity

HGNC

KIF1A

LOCATION

2q37.3

LOCUSID

547

ALIAS

ATSV,C2orf20,HSN2C,MRD9,NESCAVS,SPG30,UNC104

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: 547
MIM: 601255
HGNC: 888
Ensembl: ENSG00000130294

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130294	ENST00000320389	A0A3F2YNW9
ENSG00000130294	ENST00000404283	Q12756
ENSG00000130294	ENST00000428768	H7C0K6
ENSG00000130294	ENST00000431776	H7C3Y8
ENSG00000130294	ENST00000448728	C9JBH1
ENSG00000130294	ENST00000498729	Q12756
ENSG00000130294	ENST00000647572	A0A3B3ITW4
ENSG00000130294	ENST00000647731	A0A3B3IUA1
ENSG00000130294	ENST00000647885	A0A3B3ITF7
ENSG00000130294	ENST00000648047	A0A3B3ITK3
ENSG00000130294	ENST00000648129	A0A3B3ITW6
ENSG00000130294	ENST00000648364	A0A3B3IU40
ENSG00000130294	ENST00000648680	A0A3B3IT28
ENSG00000130294	ENST00000649096	Q12756
ENSG00000130294	ENST00000649306	A0A3B3ITE5
ENSG00000130294	ENST00000650053	Q12756
ENSG00000130294	ENST00000650130	A0A3B3ITW6

Expression (GTEx)

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

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

References

Pubmed ID	Year	Title	Citations
36282036	2024	KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.	0
36282036	2024	KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.	0
36655764	2023	Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.	7
36972935	2023	[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].	1
37001573	2023	Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.	0
37668235	2023	[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].	0
38105687	2023	Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.	0
36655764	2023	Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.	7
36972935	2023	[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].	1
37001573	2023	Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family.	0
37668235	2023	[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].	0
38105687	2023	Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.	0
34487232	2022	Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.	9
35033353	2022	KLF5 promotes KIF1A expression through transcriptional repression of microRNA-338 in the development of pediatric neuroblastoma.	2
35132656	2022	A 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/img/img/logo-atlas-4.svg