ATCAY
entrez
85300
canonical
uniprot
Q86WG3
canonical
ensembl
ENSG00000167654
resolver
ensp
ENSP00000390941
resolver
genesymbol
ATCAY
resolver
genesymbol_syn
KIAA1872
resolver
hgnc
HGNC:779
resolver
uniprot
A0A0S2Z5T8
resolver
uniprot
Q8NAQ2
resolver
uniprot
Q8TAQ3
resolver
uniprot
Q96HC6
resolver
uniprot
Q96JF5
resolver
uniprot_entry
A0A0S2Z5T8_HUMAN
resolver
uniprot_entry
ATCAY_HUMAN
resolver
uniprot_sec
Q8NAQ2
resolver
uniprot_sec
Q8TAQ3
resolver
uniprot_sec
Q96HC6
resolver
uniprot_sec
Q96JF5
resolver
amino_acid_sequence
MGTTEATLRMENVDVKEEWQDEDLPRPLPEETGVELLGSPVEDTSSPPNTLNFNGAHRKRKTLVAPEINISLDQSEGSLLSDDFLDTPDDLDINVDDIETPDETDSLEFLGNGNELEWEDDTPVATAKNMPGDSADLFGDGTTEDGSAANGRLWRTVIIGEQEHRIDLHMIRPYMKVVTHGGYYGEGLNAIIVFAACFLPDSSLPDYHYIMENLFLYVISSLELLVAEDYMIVYLNGATPRRRMPGIGWLKKCYQMIDRRLRKNLKSLIIVHPSWFIRTVLAISRPFISVKFINKIQYVHSLEDLEQLIPMEHVQIPDCVLQYEEERLKARRESARPQPEFVLPRSEEKPEVAPVENRSALVSEDQETSMS
uniprot
proteins
disease_involvement
DISEASE: Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]: Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. {ECO:0000269|PubMed:14556008}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites. {ECO:0000269|PubMed:16899818}.
uniprot
proteins
mass_dalton
42120
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="D->E: Alters cleavage by CASP3."; /evidence="ECO:0000269|PubMed:21369758"; MUTAGEN 115..117; /note="ELE->AAA: Reduced interaction with KLC1."; MUTAGEN 118..120; /note="WED->AAA: Completely abolishes interaction with KLC1.
uniprot
proteins
post_translational_modification
PTM: Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2. {ECO:0000269|PubMed:21369758}.; PTM: May be ubiquitinated by STUB1. {ECO:0000269|PubMed:16275660}.
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
14556008
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16275660
uniprot
proteins
pubmed
16899818
uniprot
proteins
pubmed
18628984
uniprot
proteins
pubmed
21369758
uniprot
proteins
sequence_length
371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, axon {ECO:0000250|UniProtKB:Q1M168}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q1M168}. Presynapse {ECO:0000269|PubMed:16899818}. Mitochondrion {ECO:0000250|UniProtKB:Q1M168}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q1M168}. Cytoplasm {ECO:0000269|PubMed:16899818}.
uniprot
proteins