Seroatlas · Human Serome Atlas

ATCAY

Caytaxin

Also known as: ATCAY_HUMAN, BNIP-H

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86WG3
Gene: ATCAY
Ensembl: ENSG00000167654
Chromosome: 19
Canonical length: 371 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

371 residues, UniProt reviewed canonical sequence.

>Q86WG3|ATCAY
     1  MGTTEATLRM ENVDVKEEWQ DEDLPRPLPE ETGVELLGSP VEDTSSPPNT LNFNGAHRKR
    61  KTLVAPEINI SLDQSEGSLL SDDFLDTPDD LDINVDDIET PDETDSLEFL GNGNELEWED
   121  DTPVATAKNM PGDSADLFGD GTTEDGSAAN GRLWRTVIIG EQEHRIDLHM IRPYMKVVTH
   181  GGYYGEGLNA IIVFAACFLP DSSLPDYHYI MENLFLYVIS SLELLVAEDY MIVYLNGATP
   241  RRRMPGIGWL KKCYQMIDRR LRKNLKSLII VHPSWFIRTV LAISRPFISV KFINKIQYVH
   301  SLEDLEQLIP MEHVQIPDCV LQYEEERLKA RRESARPQPE FVLPRSEEKP EVAPVENRSA
   361  LVSEDQETSM S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATCAY can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 79 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 79 nTPM
hypothalamus: 56 nTPM
amygdala: 45 nTPM
hippocampal formation: 39 nTPM
basal ganglia: 38 nTPM
cerebellum: 32 nTPM

Single-cell type

retinal amacrine cells: 196 nCPM
oligodendrocyte progenitor cells: 175 nCPM
retinal bipolar cells: 170 nCPM
retinal ganglion cells: 135 nCPM
adrenal medulla cells: 128 nCPM
other brain neurons: 113 nCPM

Immune cell

basophil: 0.6 nTPM
neutrophil: 0.5 nTPM
NK-cell: 0.3 nTPM
classical monocyte: 0.2 nTPM
intermediate monocyte: 0.2 nTPM
naive B-cell: 0.2 nTPM

Brain region

cerebral cortex: 156 nTPM
hypothalamus: 138 nTPM
basal ganglia: 127 nTPM
white matter: 110 nTPM
amygdala: 98 nTPM
pons: 98 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATCAY.

Disease | AllUniProt

Conditions ATCAY is implicated in, by any mechanism.

Cerebellar ataxia, cayman type (ATCAY) MIM:601238

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 221 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cayman type cerebellar ataxia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.45
gnomAD pLI: 0.62
gnomAD missense Z: 1.61
DepMap mean gene effect: 0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

apoptotic process
mitochondrion distribution
neuron projection development
regulation of protein localization
negative regulation of glutamate metabolic process

Molecular functions

kinesin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATCAY in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATCAY as an antibody target. Whether an autoantibody or antibody against ATCAY could matter depends on whether native ATCAY is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATCAY is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATCAY as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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