• Gene id: 85300

Gene Summary

• Gene Symbol: ATCAY   Gene   UCSC   Ensembl
• Aliases: BNIP-H, CLAC
• Gene name: ATCAY kinesin light chain interacting caytaxin
• Alternate names: caytaxin, ATCAY, caytaxin, BNIP-2-homolgy, BNIP-2-homology, Cayman ataxia, ataxia cayman type protein, ataxia cerebellar Cayman type,
• Gene location: 19p13.3 (3880684: 3928081)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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]
• OMIM: 616807

Protein Summary

• Protein general information: Q86WG3  
  • Name: Caytaxin (Ataxia cayman type protein) (BNIP 2 homology) (BNIP H)
  • Length: 371  
  • Mass: 42120
• Sequence:

  MGTTEATLRMENVDVKEEWQDEDLPRPLPEETGVELLGSPVEDTSSPPNTLNFNGAHRKRKTLVAPEINISLDQS
  EGSLLSDDFLDTPDDLDINVDDIETPDETDSLEFLGNGNELEWEDDTPVATAKNMPGDSADLFGDGTTEDGSAAN
  GRLWRTVIIGEQEHRIDLHMIRPYMKVVTHGGYYGEGLNAIIVFAACFLPDSSLPDYHYIMENLFLYVISSLELL
  VAEDYMIVYLNGATPRRRMPGIGWLKKCYQMIDRRLRKNLKSLIIVHPSWFIRTVLAISRPFISVKFINKIQYVH
  SLEDLEQLIPMEHVQIPDCVLQYEEERLKARRESARPQPEFVLPRSEEKPEVAPVENRSALVSEDQETSMS

• Structural information:
  • Protein Domains: (171..32-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056"-)
  • Interpro: IPR022181  IPR001251  IPR036865  
  • Prosite: PS50191
  • CDD: cd00170
  • STRING: ENSP00000390941
• Other Databases: GeneCards:  ATCAY  Malacards:  ATCAY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006915	apoptotic process	IBA	biological process
GO:0004309	exopolyphosphatase activity	IBA	molecular function
GO:0006798	polyphosphate catabolic process	IBA	biological process
GO:2000212	negative regulation of glutamate metabolic process	IDA	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:0032880	regulation of protein localization	IDA	biological process
GO:0005739	mitochondrion	IDA	NOT|colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0031175	neuron projection development	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0048311	mitochondrion distribution	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0031966	mitochondrial membrane	ISS	cellular component
GO:0019894	kinesin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0048311	mitochondrion distribution	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component

Diseases

Associated diseases	References
Cerebellar ataxia cayman type	KEGG:H01038
Cerebellar ataxia cayman type	KEGG:H01038
Cerebellar ataxia	PMID:14556008
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray