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

Gene ID: 85300, updated on 17-Sep-2024

Summary

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
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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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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_033064.5NP_149053.1  caytaxin

    See identical proteins and their annotated locations for NP_149053.1

    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:59187
    BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
    pfam13716
    Location:189314
    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_047439578.1XP_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_054322455.1XP_054178430.1  caytaxin isoform X1

    UniProtKB/TrEMBL
    B3KWN7