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    ATCAY ATCAY kinesin light chain interacting caytaxin [ Homo sapiens (human) ]

    Gene ID: 85300, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATCAYprovided by HGNC
    Official Full Name
    ATCAY kinesin light chain interacting caytaxinprovided by HGNC
    Primary source
    HGNC:HGNC:779
    See related
    Ensembl:ENSG00000167654 MIM:608179; AllianceGenome:HGNC:779
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLAC; BNIP-H
    Summary
    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]
    Expression
    Restricted expression toward brain (RPKM 41.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See ATCAY in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3880685..3928082)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3859875..3907372)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3880683..3928080)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3809153-3809388 Neighboring gene Sharpr-MPRA regulatory region 15218 Neighboring gene MPRA-validated peak3257 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13745 Neighboring gene zinc finger RNA binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3831251-3831840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3843229-3843728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3849523-3850024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3871123-3871622 Neighboring gene Sharpr-MPRA regulatory region 13254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3880358-3880888 Neighboring gene ferritin light chain pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3912272-3912471 Neighboring gene RNA, 7SL, cytoplasmic 202, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3938329-3939088 Neighboring gene nicotinamide riboside kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3951361-3952130 Neighboring gene death associated protein kinase 3 Neighboring gene microRNA 637

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Nystuen A, et al. Hum Mol Genet, 1996 Apr. PMID 8845847
    2. Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. Manzoor H, et al. Parkinsonism Relat Disord, 2018 Jun. PMID 29449188
    3. Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. Sikora KM, et al. PLoS One, 2012. PMID 23226316, Free PMC Article
    4. Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. Buschdorf JP, et al. J Cell Sci, 2006 Aug 15. PMID 16899818
    5. Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains. Aoyama T, et al. J Cell Sci, 2009 Nov 15. PMID 19861499

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel homozygous variants in ATCAY, MCOLN1, and SACS in a complex movement disorder in five consanguineous Pakistani families.
      Title: Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
    2. Caytaxin's role in maintaining normal neuronal function
      Title: Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.
    3. caytaxin binds to kinesin-1 and functions as an adaptor that mediates intracellular transport of specific cargos, one of which is the mitochondrion.
      Title: Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains.
    4. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cayman type cerebellar ataxia
    MedGen: C1832585 OMIM: 601238 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of aging.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1872

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion distribution ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT colocalizes_with mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    caytaxin
    Names
    ATCAY, caytaxin
    BNIP-2-homolgy
    BNIP-2-homology
    Cayman ataxia
    ataxia cayman type protein
    ataxia cerebellar Cayman type

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012638.2 RefSeqGene

      Range
      5002..52399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033064.5 → NP_149053.1  caytaxin

      Status: REVIEWED

      Source sequence(s)
      AC011488
      Consensus CDS
      CCDS45923.1
      UniProtKB/Swiss-Prot
      Q86WG3, Q8NAQ2, Q8TAQ3, Q96HC6, Q96JF5
      UniProtKB/TrEMBL
      A0A0S2Z5T8, A0A0S2Z5Y8
      Related
      ENSP00000390941.1, ENST00000450849.7
      Conserved Domains (2) summary
      pfam12496
      Location:59 → 187
      BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
      pfam13716
      Location:189 → 314
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3880685..3928082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439578.1 → XP_047295534.1  caytaxin isoform X1

      UniProtKB/TrEMBL
      B3KWN7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3859875..3907372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322455.1 → XP_054178430.1  caytaxin isoform X1

      UniProtKB/TrEMBL
      B3KWN7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WG3.2 GenPept UniProtKB/Swiss-Prot:Q86WG3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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