Atcay ataxia, cerebellar, Cayman type [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atcayprovided by MGI
Official Full Name: ataxia, cerebellar, Cayman typeprovided by MGI
Primary source: MGI:MGI:2448730
See related: Ensembl:ENSMUSG00000034958 AllianceGenome:MGI:2448730
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ji; hes; CLAC; BNIP-H; 3322401A10Rik
Summary: Predicted to enable kinesin binding activity. Involved in neuron projection development. Located in mitochondrial membrane and neuron projection. Is expressed in gut; nervous system; and sensory organ. Used to study Cayman type cerebellar ataxia. Human ortholog(s) of this gene implicated in Cayman type cerebellar ataxia and cerebellar ataxia. Orthologous to human ATCAY (ATCAY kinesin light chain interacting caytaxin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 50.5), whole brain E14.5 (RPKM 43.9) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (81040338..81067037, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (81204504..81230845, complement)

Chromosome 10 - NC_000076.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

activation of DAPK1 impairs learning and memory by degrading Caytaxin during aging.
Title: Degradation of Caytaxin Causes Learning and Memory Deficits via Activation of DAPK1 in Aging.
Caytaxin's role in maintaining normal neuronal function
Title: Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.
Caytaxin is a novel substrate of caspase-3, which is cleaved upstream of the CRAL-TRIO/BCH domain and which regulates MEK2 signaling
Title: Cayman ataxia-related protein is a presynapse-specific caspase-3 substrate.
The classical hesitant allele of Atcay is partially suppressed by CAST/Ei alleles of the nuclear export factor Nxf1.
Title: Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing.
Mutations of mouse Atcay are an orthologous gene model for human Cayman ataxia.
Title: Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (3)
Spontaneous (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH130989 (e-PCR)
- UniSTS:214272

NoName (e-PCR)
- UniSTS:236401

RH118337 (e-PCR)
- UniSTS:160974

BB077577 (e-PCR)
- UniSTS:185845

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables kinesin binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion distribution	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion distribution	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glutamate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of glutamate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuron projection terminus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in synapse	ISO Inferred from Sequence Orthology 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: ataxia, cerebellar, Cayman type homolog; hesitant; jittery

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.

mRNA and Protein(s)

NM_178662.5 → NP_848777.1 caytaxin

See identical proteins and their annotated locations for NP_848777.1

Status: VALIDATED

Source sequence(s)

AC155932

Consensus CDS

CCDS24047.1

UniProtKB/Swiss-Prot

Q3TR94, Q8BHE3

Related

ENSMUSP00000036721.5, ENSMUST00000047408.6

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

RNA

NR_190409.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC155932

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

81040338..81067037 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244918.2 → XP_030100778.1 caytaxin isoform X1

Conserved Domains (2) summary

pfam12496
Location:1 → 58

BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2

pfam13716
Location:60 → 197

CRAL_TRIO_2; Divergent CRAL/TRIO domain