KIF1C (kinesin family member 1C)

2015-11-01  

Identity

HGNC
KIF1C
LOCATION
17p13.2
LOCUSID
10749
ALIAS
LTXS1,SATX2,SAX2,SPAX2,SPG58
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10749
MIM: 603060
HGNC: 6317
Ensembl: ENSG00000129250

Variants:

dbSNP: 10749
ClinVar: 10749
TCGA: ENSG00000129250
COSMIC: KIF1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129250ENST00000320785O43896
ENSG00000129250ENST00000574165I3L1B1

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387260042024KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes.0
387260042024KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes.0
356541432022c-Src-mediated phosphorylation and activation of kinesin KIF1C promotes elongation of invadopodia in cancer cells.3
359613162022Force generation of KIF1C is impaired by pathogenic mutations.2
360998942022Intracellular transport: KIF1C produces force along with a few slips.1
356541432022c-Src-mediated phosphorylation and activation of kinesin KIF1C promotes elongation of invadopodia in cancer cells.3
359613162022Force generation of KIF1C is impaired by pathogenic mutations.2
360998942022Intracellular transport: KIF1C produces force along with a few slips.1
312174192019PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport.34
314139032019KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.4
312174192019PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport.34
314139032019KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.4
295448882018Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.7
295448882018Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.7
291232232017Structural basis of small molecule ATPase inhibition of a human mitotic kinesin motor protein.8

Citation

Dessen P

KIF1C (kinesin family member 1C)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55537