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

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: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3880685..3928082)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3859875..3907372)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3880683..3928080)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Caytaxin's role in maintaining normal neuronal function
Title: Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.
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.
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.

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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 EBI GWAS CatalogPubMed

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

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

L17971 (e-PCR)
- UniSTS:43966

NoName (e-PCR)
- UniSTS:490192

ECD04345 (e-PCR)
- UniSTS:285422

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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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.