ATCAY (ATCAY kinesin light chain interacting caytaxin)

2014-11-01  

Identity

HGNC
ATCAY
LOCATION
19p13.3
LOCUSID
85300
ALIAS
BNIP-H,CLAC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85300
MIM: 608179
HGNC: 779
Ensembl: ENSG00000167654

Variants:

dbSNP: 85300
ClinVar: 85300
TCGA: ENSG00000167654
COSMIC: ATCAY

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167654ENST00000450849Q86WG3
ENSG00000167654ENST00000450849A0A0S2Z5T8
ENSG00000167654ENST00000597739M0R225
ENSG00000167654ENST00000598136M0R197
ENSG00000167654ENST00000600960Q86WG3

Expression (GTEx)

0
50
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

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
294491882018Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.5
294491882018Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.5
232263162012Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.5
232263162012Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.5
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.69
198614992009Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains.21
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.69
198614992009Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains.21

Citation

Dessen P

ATCAY (ATCAY kinesin light chain interacting caytaxin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60590/css/deep-insight-explorer/