ATCAY (ATCAY kinesin light chain interacting caytaxin)

2014-11-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
BNIP-H,CLAC
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/js/web-card-gene.js