Atcay
Gene Detail

Symbol Name ID

Atcay ataxia, cerebellar, Cayman type homolog (human) MGI:2448730

Synonyms

3322401A10Rik, BNIP-H, ji

Feature Type

protein coding gene

Genetic Map

Chromosome 10

39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)

Sequence Map

Chr10:81204508-81230833 bp, - strand From VEGA annotation of GRCm38   26326 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:13206  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Atcay

Human homologs

Human Homolog		ATCAY, ataxia, cerebellar, Cayman type
NCBI Gene ID		85300
neXtProt AC		NX_Q86WG3
Human Synonyms		BNIP-H, CLAC
Human Chr (Location)		19p13.3; chr19:3880618-3928080 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATCAY

Alleles and phenotypes

All alleles(6) : Gene trapped(1) Spontaneous(4) Chemically induced(1)
 

Mutants homozygous for a severe allele show progressive impaired coordination and seizures beginning by 10-16 days of age and die by 4 weeks of age. Homozygotes for milder alleles have abnormal gait, slightly diminished body size and reduced male fertility.

 

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	mitochondrion distribution, negative regulation of glutamate metabolic process, ...
Component	axon, cell junction, ...
Function	kinesin binding

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (203)    Tissues (28)    Images (26)
Theiler Stages: 23, 24, 28

Assay Type	Results
RNA in situ	194
Northern blot	9

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(49) cDNA(49)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000030319 (Evidence)
Ensembl Gene Model	ENSMUSG00000034958 (Evidence)
Entrez Gene	16467 (Evidence)
UniGene	127681
DFCI	TC1574224
DoTS	DT.91321000
NIA Mouse Gene Index	U032038
Consensus CDS Project	CCDS24047.1
International Mouse Knockout Project Status	Atcay

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030319	VEGA Gene Model | MGI Sequence Detail	26326	C57BL/6J
transcript	OTTMUST00000075100	VEGA | MGI Sequence Detail	3736	Not Applicable
polypeptide	OTTMUSP00000039302	VEGA | MGI Sequence Detail	372	Not Applicable

All sequences(35) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(65 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR022181	Bcl2-/adenovirus E1B 19kDa-interacting protein 2
InterPro	IPR001251	CRAL-TRIO domain
Protein Ontology	PR:000004395	caytaxin

References

(Earliest) J:300 Snell GD, Linkage of jittery and waltzing in the mouse. J Hered. 1945;36:279-80
(Latest) J:194997 Sikora KM, et al., Expression of Cayman Ataxia aytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. PLoS One. 2012;7(11):e50570
All references(45)

Other accession IDs

MGD-MRK-10693, MGD-MRK-11529, MGI:2143893, MGI:2442176, MGI:96640