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Aliases for ATCAY Gene

Aliases for ATCAY Gene

  • Ataxia, Cerebellar, Cayman Type 2 3 5
  • Ataxia Cayman Type Protein 3 4
  • BNIP-2-Homology 3 4
  • Cayman Ataxia 2 3
  • BNIP-H 3 4
  • Ataxia Cerebellar Cayman Type 3
  • BNIP-2-Homolgy 3
  • Caytaxin 2
  • KIAA1872 4
  • CLAC 3

External Ids for ATCAY Gene

Previous GeneCards Identifiers for ATCAY Gene

  • GC19U990004
  • GC19P003832
  • GC19P003833
  • GC19P003834
  • GC19P003644

Summaries for ATCAY Gene

Entrez Gene Summary for ATCAY 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]

GeneCards Summary for ATCAY Gene

ATCAY (Ataxia, Cerebellar, Cayman Type) is a Protein Coding gene. Diseases associated with ATCAY include Ataxia, Cerebellar, Cayman Type and Fibrosis Of Extraocular Muscles, Congenital, 5. GO annotations related to this gene include kinesin binding. An important paralog of this gene is BNIPL.

UniProtKB/Swiss-Prot for ATCAY Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATCAY Gene

Genomics for ATCAY Gene

Regulatory Elements for ATCAY Gene

Enhancers for ATCAY Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATCAY on UCSC Golden Path with GeneCards custom track

Genomic Location for ATCAY Gene

Chromosome:
19
Start:
3,879,864 bp from pter
End:
3,928,082 bp from pter
Size:
48,219 bases
Orientation:
Plus strand

Genomic View for ATCAY Gene

Genes around ATCAY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATCAY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATCAY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATCAY Gene

Proteins for ATCAY Gene

  • Protein details for ATCAY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WG3-ATCAY_HUMAN
    Recommended name:
    Caytaxin
    Protein Accession:
    Q86WG3
    Secondary Accessions:
    • Q8NAQ2
    • Q8TAQ3
    • Q96HC6
    • Q96JF5

    Protein attributes for ATCAY Gene

    Size:
    371 amino acids
    Molecular mass:
    42120 Da
    Quaternary structure:
    • Interacts with KLC1; may link mitochondria to KLC1 and regulate mitochondria localization into neuron projections (By similarity). Interacts with GLS; the interaction is direct and may control GLS localization, negatively regulating its activity. Interacts with PIN1 (via WW domain); upon NGF stimulation. The interaction with PIN1 and GLS is competitive. May interact with MAP2K2.
    SequenceCaution:
    • Sequence=BAB47501.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC03859.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATCAY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATCAY Gene

Proteomics data for ATCAY Gene at MOPED

Post-translational modifications for ATCAY Gene

  • Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2.
  • May be ubiquitinated by STUB1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATCAY Gene

No data available for DME Specific Peptides for ATCAY Gene

Domains & Families for ATCAY Gene

Protein Domains for ATCAY Gene

Suggested Antigen Peptide Sequences for ATCAY Gene

Graphical View of Domain Structure for InterPro Entry

Q86WG3

UniProtKB/Swiss-Prot:

ATCAY_HUMAN :
  • The CRAL-TRIO domain is known to bind small hydrophobic molecules.
Domain:
  • The CRAL-TRIO domain is known to bind small hydrophobic molecules.
  • Contains 1 CRAL-TRIO domain.
genes like me logo Genes that share domains with ATCAY: view

No data available for Gene Families for ATCAY Gene

Function for ATCAY Gene

Molecular function for ATCAY Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with ATCAY: view

Human Phenotype Ontology for ATCAY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ATCAY Gene

Localization for ATCAY Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATCAY Gene

Cell projection, axon. Cell projection, dendrite. Cell junction, synapse. Cytoplasm. Mitochondrion envelope. Note=Localizes presynaptically into neuron projections.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATCAY Gene COMPARTMENTS Subcellular localization image for ATCAY gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ATCAY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16899818
GO:0030425 dendrite ISS --
GO:0043005 neuron projection IDA 16899818
genes like me logo Genes that share ontologies with ATCAY: view

Pathways & Interactions for ATCAY Gene

SuperPathways for ATCAY Gene

No Data Available

Interacting Proteins for ATCAY Gene

Gene Ontology (GO) - Biological Process for ATCAY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IBA --
genes like me logo Genes that share ontologies with ATCAY: view

No data available for Pathways by source and SIGNOR curated interactions for ATCAY Gene

Drugs & Compounds for ATCAY Gene

No Compound Related Data Available

Transcripts for ATCAY Gene

Unigene Clusters for ATCAY Gene

Ataxia, cerebellar, Cayman type:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATCAY Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: - -
SP6:
SP7: - - - -

Relevant External Links for ATCAY Gene

GeneLoc Exon Structure for
ATCAY
ECgene alternative splicing isoforms for
ATCAY

Expression for ATCAY Gene

mRNA expression in normal human tissues for ATCAY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATCAY Gene

This gene is overexpressed in Brain - Cortex (x8.1), Brain - Frontal Cortex (BA9) (x6.8), Brain - Anterior cingulate cortex (BA24) (x6.2), and Brain - Hypothalamus (x4.6).

Protein differential expression in normal tissues from HIPED for ATCAY Gene

This gene is overexpressed in Fetal Brain (23.3), Brain (22.3), and Frontal cortex (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATCAY Gene



SOURCE GeneReport for Unigene cluster for ATCAY Gene Hs.418055

genes like me logo Genes that share expression patterns with ATCAY: view

Protein tissue co-expression partners for ATCAY Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ATCAY Gene

Orthologs for ATCAY Gene

This gene was present in the common ancestor of animals.

Orthologs for ATCAY Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATCAY 35
  • 88.04 (n)
  • 94.57 (a)
ATCAY 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATCAY 35
  • 87.96 (n)
  • 94.88 (a)
ATCAY 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atcay 35
  • 83.47 (n)
  • 91.37 (a)
Atcay 16
Atcay 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atcay 35
  • 83.74 (n)
  • 91.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ATCAY 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATCAY 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATCAY 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATCAY 35
  • 82.82 (n)
  • 90.81 (a)
ATCAY 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atcay 35
  • 74.07 (n)
  • 86.32 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC799499 35
  • 70.91 (n)
  • 73.03 (a)
atcaya 36
  • 68 (a)
OneToMany
atcaya 36
  • 65 (a)
OneToMany
atcayb 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11593 36
  • 24 (a)
OneToMany
Species with no ortholog for ATCAY:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATCAY Gene

ENSEMBL:
Gene Tree for ATCAY (if available)
TreeFam:
Gene Tree for ATCAY (if available)

Paralogs for ATCAY Gene

Paralogs for ATCAY Gene

(4) SIMAP similar genes for ATCAY Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATCAY: view

Variants for ATCAY Gene

Sequence variations from dbSNP and Humsavar for ATCAY Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_017164 Cerebellar ataxia, cayman type (ATCAY)
rs7258781 -- 3,904,654(+) cacac(A/G)cacac intron-variant
rs12976377 -- 3,898,265(+) ctgca(G/T)cctcg intron-variant
rs12976960 -- 3,887,733(+) cgccc(A/G)cctcg intron-variant
rs12977550 -- 3,912,007(+) ACGGT(A/G)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATCAY Gene

Variant ID Type Subtype PubMed ID
nsv833715 CNV Loss 17160897
nsv910780 CNV Loss 21882294
nsv910781 CNV Loss 21882294
dgv3665n71 CNV Loss 21882294
nsv910783 CNV Loss 21882294
esv2717976 CNV Deletion 23290073
esv1401003 CNV Insertion 17803354

Variation tolerance for ATCAY Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATCAY Gene

Human Gene Mutation Database (HGMD)
ATCAY

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATCAY Gene

Disorders for ATCAY Gene

MalaCards: The human disease database

(6) MalaCards diseases for ATCAY Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ataxia, cerebellar, cayman type
  • cerebellar ataxia, cayman type
fibrosis of extraocular muscles, congenital, 5
  • cfeom5
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
ataxia
spinocerebellar ataxia 26
  • spinocerebellar ataxia type 26
- elite association - COSMIC cancer census association via MalaCards
Search ATCAY in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATCAY_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for ATCAY

Genetic Association Database (GAD)
ATCAY
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATCAY
genes like me logo Genes that share disorders with ATCAY: view

No data available for Genatlas for ATCAY Gene

Publications for ATCAY Gene

  1. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (PMID: 14556008) Bomar J.M. … Burmeister M. (Nat. Genet. 2003) 2 3 4 23 67
  2. Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons. (PMID: 18628984) Buschdorf J.P. … Low B.C. (PLoS ONE 2008) 3 23
  3. Identification of VCP/p97, carboxyl terminus of Hsp70-interacting protein (CHIP), and amphiphysin II interaction partners using membrane-based human proteome arrays. (PMID: 16275660) Grelle G. … Wanker E.E. (Mol. Cell. Proteomics 2006) 3 23
  4. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. (PMID: 16899818) Buschdorf J.P. … Low B.C. (J. Cell Sci. 2006) 3 23
  5. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. (PMID: 8845847) Nystuen A. … Sheffield V.C. (Hum. Mol. Genet. 1996) 2 3

Products for ATCAY Gene

Sources for ATCAY Gene

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