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Aliases for ATCAY Gene

Aliases for ATCAY Gene

  • ATCAY, Caytaxin 2 3 5
  • Ataxia Cayman Type Protein 3 4
  • BNIP-2-Homology 3 4
  • Cayman Ataxia 2 3
  • Caytaxin 2 3
  • BNIP-H 3 4
  • Ataxia, Cerebellar, Cayman Type 2
  • Ataxia Cerebellar Cayman Type 3
  • BNIP-2-Homolgy 3
  • 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 (ATCAY, Caytaxin) is a Protein Coding gene. Diseases associated with ATCAY include Cerebellar Ataxia, Cayman Type and Spinocerebellar Ataxia 26. Gene Ontology (GO) annotations related to this gene include kinesin binding. An important paralog of this gene is PRUNE2.

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.

Additional gene information for ATCAY Gene

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

Genomics for ATCAY Gene

GeneHancer (GH) Regulatory Elements for ATCAY Gene

Promoters and enhancers for ATCAY Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I003881 Promoter/Enhancer 0.9 EPDnew ENCODE 550.8 +0.8 764 0.2 MXI1 POLR2A ATCAY GC19P003882 ZFR2
GH19I003880 Enhancer 0.5 ENCODE 550.8 +1.2 1183 0.5 MXI1 POLR2A ZFP64 EZH2 ATCAY GC19P003882
GH19I003811 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.1 -66.5 -66536 3.3 HDGF PKNOX1 ATF1 ZNF121 ATF7 RUNX3 NCOA1 ATF4 SMARCA4 HMBOX1 ZFR2 ATCAY ANKRD24 MATK MAP2K2 FZR1 ZBTB7A CCDC94 APBA3 GC19P003816
GH19I003828 Enhancer 0.9 Ensembl ENCODE 12 -51.3 -51250 0.6 ATF1 ETV1 JUN FOSL1 GATA3 EGR1 RCOR1 ATF7 CREM TCF7L2 ZFR2 ATCAY RAX2 APBA3 MRPL54 GC19P003837 GC19P003816
GH19I003852 Enhancer 0.8 ENCODE 12.6 -27.1 -27076 0.1 RB1 KLF17 RAD21 RFX5 ZNF335 ZNF121 EGR1 SMARCC2 RCOR1 FOS PIR53050 ATCAY EEF2 GC19P003837 ZFR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATCAY on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATCAY gene promoter:

Genomic Locations for ATCAY Gene

Genomic Locations for ATCAY Gene
chr19:3,879,864-3,928,082
(GRCh38/hg38)
Size:
48,219 bases
Orientation:
Plus strand
chr19:3,879,862-3,928,080
(GRCh37/hg19)

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

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

Gene Families for ATCAY Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
genes like me logo Genes that share domains with ATCAY: view

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.

Phenotypes From GWAS Catalog for ATCAY Gene

Gene Ontology (GO) - Molecular Function for ATCAY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16275660
GO:0019894 kinesin binding IPI 19861499
GO:0050699 WW domain binding IEA --
genes like me logo Genes that share ontologies with ATCAY: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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,IEA 16899818
GO:0005739 NOT colocalizes_with mitochondrion IDA 16899818
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ATCAY: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATCAY Gene

Pathways & Interactions for ATCAY Gene

SuperPathways for ATCAY Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATCAY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007399 nervous system development IEA --
GO:0031175 neuron projection development ISS --
GO:0032880 regulation of protein localization IDA 16899818
GO:0048311 mitochondrion distribution ISS --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ATCAY Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATCAY Gene:

ATCAY

SOURCE GeneReport for Unigene cluster for ATCAY Gene:

Hs.418055

Evidence on tissue expression from TISSUES for ATCAY Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATCAY Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ATCAY: view

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
chimpanzee
(Pan troglodytes)
Mammalia ATCAY 34
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATCAY 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATCAY 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATCAY 33 34
  • 88.04 (n)
dog
(Canis familiaris)
Mammalia ATCAY 33 34
  • 87.96 (n)
rat
(Rattus norvegicus)
Mammalia Atcay 33
  • 83.74 (n)
mouse
(Mus musculus)
Mammalia Atcay 33 16 34
  • 83.47 (n)
chicken
(Gallus gallus)
Aves ATCAY 33 34
  • 82.82 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia atcay 33
  • 74.07 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC799499 33
  • 70.91 (n)
atcayb 34
  • 69 (a)
OneToMany
atcaya 34 34
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11593 34
  • 24 (a)
OneToMany
Species where no ortholog for ATCAY was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1038938029 uncertain-significance, Cerebellar ataxia, cayman type 3,925,531(+) G/A 3_prime_UTR_variant
rs10404967 likely-benign, Cerebellar ataxia, cayman type 3,926,134(+) C/T 3_prime_UTR_variant
rs10411454 likely-benign, Cerebellar ataxia, cayman type 3,926,178(+) T/C 3_prime_UTR_variant
rs10412199 benign, Cerebellar ataxia, cayman type 3,927,773(+) G/A 3_prime_UTR_variant
rs10420591 likely-benign, Cerebellar ataxia, cayman type 3,920,752(+) T/C/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv1401003 CNV insertion 17803354
esv2717976 CNV deletion 23290073
esv3643481 CNV gain 21293372
nsv1072844 CNV deletion 25765185
nsv833715 CNV loss 17160897

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)

Additional Variant Information for ATCAY Gene

Human Gene Mutation Database (HGMD)
ATCAY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATCAY

SNP Genotyping and Copy Number Assay Products

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

Disorders for ATCAY Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATCAY Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 JM … Burmeister M (Nature genetics 2003) 2 3 4 22 58
  2. Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons. (PMID: 18628984) Buschdorf JP … Low BC (PloS one 2008) 3 4 22 58
  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 EE (Molecular & cellular proteomics : MCP 2006) 3 4 22 58
  4. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. (PMID: 16899818) Buschdorf JP … Low BC (Journal of cell science 2006) 3 4 22 58
  5. A genome-wide association study of aging. (PMID: 21782286) Walter S … Franceschini N (Neurobiology of aging 2011) 3 44 58

Products for ATCAY Gene

Sources for ATCAY Gene

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