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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATCAY Gene

protein-coding   GIFtS: 50
GCID: GC19P003880

ataxia, cerebellar, Cayman type
 Explore 16 diseases affiliated with
ATCAY via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATCAY    

Aliases
for ATCAY gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ataxia, Cerebellar, Cayman Type1 2     BNIP-2-Homolgy1
Ataxia Cayman Type Protein2 3     Cayman Ataxia2
BNIP-H2 3     Caytaxin1
CLAC2 5     BNIP-2-Homology1
KIAA18723 5     

External Ids:    HGNC: 7791   Entrez Gene: 853002   Ensembl: ENSG000001676547   OMIM: 6081795   UniProtKB: Q86WG33   

Export aliases for ATCAY gene to outside databases

Previous GC identifers: GC19U990004 GC19P003832 GC19P003833 GC19P003834 GC19P003644


Summaries
for ATCAY gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATCAY:
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)

UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
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




Genomic Views
for ATCAY gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATCAY gene promoter:
         STAT1   USF1   STAT1beta   Tal-1beta   STAT1alpha   E47   CBF-B   USF-1   c-Myb   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATCAY promoter sequence
   Search SABiosciences Chromatin IP Primers for ATCAY

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATCAY


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ATCAY Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATCAY gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P003880:  view genomic region     (about GC identifiers)

Start:
 3,880,618 bp from pter      End:
 3,928,080 bp from pter
Size:
 47,463 bases      Orientation:
 plus strand

Proteins
for ATCAY gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3 (See protein sequence)
Recommended Name: Caytaxin  
Size: 371 amino acids; 42120 Da
Subunit: 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
Subcellular location: Cell projection, axon (By similarity). Cell projection, dendrite (By similarity). Cell junction,
synapse (By similarity). Cytoplasm. Mitochondrion envelope. Note=Localizes presynaptically into neuron projections
Sequence caution: Sequence=BAB47501.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC03859.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
Secondary accessions: Q8NAQ2 Q8TAQ3 Q96HC6 Q96JF5
Alternative splicing: 2 isoforms:  Q86WG3-1   Q86WG3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATCAY: NX_Q86WG3

Post-translational modifications:

  • Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling
    • pathway through MAP2K21
  • May be ubiquitinated by STUB11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86WG3

    • ATCAY Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_149053.1  
    ENSEMBL proteins: 
     ENSP00000390941   ENSP00000301260   ENSP00000381466  

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    Uscn Proteins for ATCAY

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA16899818
    GO:0005739NOT colocalizes with mitochondrion IDA16899818
    GO:0030054cell junction IEA--
    GO:0030424axon ISS--
    GO:0030425dendrite ISS--


    ATCAY for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATCAY

    Protein Domains /
    Families
    for ATCAY gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATCAY for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR022181 Bcl2-/adenovirus-E1B
     IPR001251 CRAL-TRIO_dom

    Graphical View of Domain Structure for InterPro Entry Q86WG3

    ProtoNet protein and cluster: Q86WG3

    UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
    Domain: The CRAL-TRIO domain is known to bind small hydrophobic molecules (By similarity)
    Similarity: Contains 1 CRAL-TRIO domain


    Function
    for ATCAY gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATCAY
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate ATCAY (see all 12):
    hsa-miR-498 hsa-miR-10b hsa-miR-3190 hsa-miR-10a hsa-miR-646 hsa-miR-141* hsa-miR-124 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmid: ATCAY 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATCAY (see all 6)
    OriGene siRNA: ATCAY
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATCAY

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATCAY (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATCAY 

    Cell Line
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    Search LifeMap BioReagents cell lines for ATCAY

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16275660
    GO:0019894kinesin binding IPI19861499


    ATCAY for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ATCAY:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

    Animal Models:
         10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Atcay):
     behavior/neurological  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  reproductive system 

    ATCAY for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATCAY gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATCAY

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ATCAY (Q86WG31, 3 ENSP000003909414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STUB1Q9UNE71, 3, ENSP000002195484EBI-1783328,EBI-357085 I2D: score=2 STRING: ENSP00000219548
    UBE2D2P628373, ENSP000003817174I2D: score=1 STRING: ENSP00000381717
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0031175neuron projection development ISS--
    GO:0032880regulation of protein localization IDA16899818
    GO:0048311mitochondrion distribution ISS--
    GO:2000212negative regulation of glutamate metabolic process IDA16899818


    ATCAY for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATCAY gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATCAY
    Search CenterWatch for drugs/clinical trials and news about ATCAY 

    Transcripts
    for ATCAY gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ATCAY gene: 
    NM_033064.4  

    Unigene Cluster for ATCAY:

    Ataxia, cerebellar, Cayman type
    Hs.418055  [show with all ESTs]
    Unigene Representative Sequence: NM_033064
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450849(uc002lyy.4 uc010xhz.2 uc010dts.3) ENST00000301260
    ENST00000398448

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATCAY
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate ATCAY (see all 12):
    hsa-miR-498 hsa-miR-10b hsa-miR-3190 hsa-miR-10a hsa-miR-646 hsa-miR-141* hsa-miR-124 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmid: ATCAY 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATCAY (see all 6)
    OriGene siRNA: ATCAY
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATCAY
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATCAY
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATCAY

    Additional cDNA sequence: 

    AB058775.1 AK027889.1 AK092298.1 AK092309.1 AK125457.1 AK299522.1 AY220297.1 BC008736.2 
    BC014884.1 BC026217.1 

    7 DOTS entries:

    DT.65285688  DT.100020288  DT.100735611  DT.100781347  DT.121449658  DT.91786501  DT.91912807 

    24/72 AceView cDNA sequences (see all 72):

    AY220297 BC026217 BG913417 BF346320 CB152886 NM_033064 AI278847 CR624420 
    AA364005 BF529143 BU521943 AA325587 BG910297 T05645 AK027889 AK092309 
    BG914046 BF924807 BF530027 AX747472 AL138250 CD107013 AA670368 AL134418 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATCAY (see all 7)    About this scheme

    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:                                            -     -                                                                           


    ECgene alternative splicing isoforms for ATCAY

    Expression
    for ATCAY gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATCAY expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCTTTGGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATCAY expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    Gut TubeMidgutGut Tube
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATCAY Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATCAY

    SOURCE GeneReport for Unigene cluster: Hs.418055
        SABiosciences Custom PCR Arrays for ATCAY
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATCAY
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATCAY

    Orthologs
    for ATCAY gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ATCAY gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Atcay1 , 5 ataxia, cerebellar, Cayman type homolog (human)1, 5 83.47(n)1
    91.37(a)1    		   10 (39.72 cM)5
    164671  NM_178662.31  NP_848777.11 
     812045085 
    chicken
    (Gallus gallus)    		 Aves ATCAY1 ataxia, cerebellar, Cayman type 82.82(n)
    90.81(a)    		   420094  XM_418214.3  XP_418214.3 
    zebrafish
    (Danio rerio)    		 Actinopterygii atcaya1 ataxia, cerebellar, Cayman type a 71.51(n)
    76.24(a)    		   565827  XM_003200957.1  XP_003201005.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG115936
    		 --
    		 21(a)
    		 1 → many
    		 3L(4037523-4040482)


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

    Paralogs
    for ATCAY gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATCAY gene
    PRUNE22  BNIP22  ARHGAP82  PRR5-ARHGAP82  ARHGAP12  BNIPL2  
    4 SIMAP similar genes for ATCAY using alignment to 4 protein entries:     ATCAY_HUMAN (see all proteins):
    PRUNE2    BNIP2    BNIPL    ARHGAP8

    ATCAY for paralogs           About GeneDecksing



    Genomic Variants
    for ATCAY gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1016 NCBI SNPs in ATCAY are shown (see all 1016)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1883836211,2
    		--3878697(+) TTGCGC/GTGAGC 1 -- us2k10--------
    rs1130542091,2
    		C,--3878753(+) TGTCTCAAAA/- 
                CAAAA     		1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1492645621,2
    		C--3878779(+) AAAAC-/AAAAC 
                CCAGT     		1 -- us2k10--------
    rs1812118721,2
    		--3878818(+) AACAAC/GAACAA 1 -- us2k10--------
    rs48069611,2
    		C,F,H,--3878895(+) TAATCC/TCAACA 1 -- us2k115Minor allele frequency- T:0.14NS EA NA 1806
    rs1416282351,2
    		--3878922(+) TGAGAA/GGCTCA 1 -- us2k10--------
    rs1452974431,2
    		--3879008(+) AGGGCG/TTGGTG 1 -- us2k10--------
    rs1379403401,2
    		--3879011(+) GCGTGA/GTGGTA 1 -- us2k10--------
    rs48069621,2
    		C,F,A,H,--3879033(+) TCTCAG/ACCACT 1 -- us2k123Minor allele frequency- A:0.48NS EA NA WA CSA 2064
    rs1849626911,2
    		--3879071(+) GAGCCC/TGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATCAY (3880618 - 3928080 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATCAY: --
    Human Gene Mutation Database (HGMD): ATCAY

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    Disorders / Diseases
    for ATCAY gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATCAY for disorders           About GeneDecksing

    OMIM gene information: 608179   
    OMIM disorders: 601238  
    UniProtKB/Swiss-Prot: ATCAY_HUMAN, Q86WG3
  • Defects in ATCAY are the cause of cerebellar ataxia, cayman type (ATCAY) [MIM:601238]. ATCAY is 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

    16 diseases for ATCAY:    About MalaCards
    cerebellar ataxia, cayman type    ataxia    cerebellar ataxia    infantile onset spinocerebellar ataxia
    axonal neuropathy    friedreich ataxia    spinocerebellar ataxia    refsum disease
    neuronitis    apraxia    nystagmus    tremor
    albinism    neuropathy    hypotonia    schizophrenia

    5 diseases from the University of Copenhagen DISEASES database for ATCAY:
    Infantile onset spinocerebellar ataxia     Cerebellar ataxia     Axonal neuropathy     Apraxia
    DOID:4019

    Export disorders for ATCAY gene to outside databases

    Publications
    for ATCAY gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATCAY gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with ATCAY)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (PubMed id 14556008)1, 2, 3, 9 Bomar J.M.... Burmeister M. (2003)
    2. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. (PubMed id 16899818)1, 2, 9 Buschdorf J.P....Low B.C. (2006)
    3. Identification of VCP/p97, carboxyl terminus of Hsp70-interacting protein (CHIP), and amphiphysin II interaction partners using membrane-based human proteome arrays. (PubMed id 16275660)1, 2, 9 Grelle G....Wanker E.E. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    7. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. (PubMed id 8845847)1, 3 Nystuen A....Sheffield V.C. (1996)
    8. Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons. (PubMed id 18628984)2, 9 Buschdorf J.P....Low B.C. (2008)
    9. A genome-wide association study of aging. (PubMed id 21782286)1 Walter S....Franceschini N. (2011)
    10. Cayman ataxia-related protein is a presynapse-specific caspase-3 substrate. (PubMed id 21369758)2 Itoh M.... Nakagawa T. (2011)

    External Searches for ATCAY gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATCAY gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 85300 HGNC: 779 AceView: ATCAY Ensembl:ENSG00000167654 euGenes: HUgn85300
    ECgene: ATCAY H-InvDB: ATCAY

    Other Databases showing ATCAY gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1872

    Specialized Databases showing ATCAY gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATCAY Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATCAY

    Intellectual Property
    for ATCAY gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ATCAY gene:
    Search GeneIP for patents involving ATCAY

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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