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ATCAY (ATCAY kinesin light chain interacting caytaxin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85300
Gene nameGene Name - the full gene name approved by the HGNC.
ATCAY kinesin light chain interacting caytaxin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ATCAY
SynonymsGene synonyms aliases
BNIP-H, CLAC
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
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]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT661756 hsa-miR-186-3p HITS-CLIP 19536157
MIRT617739 hsa-miR-4485-5p HITS-CLIP 19536157
MIRT643328 hsa-miR-6747-3p HITS-CLIP 19536157
MIRT617738 hsa-miR-1234-3p HITS-CLIP 19536157
MIRT617737 hsa-miR-7107-5p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004309 Function Exopolyphosphatase activity IBA 21873635
GO:0005515 Function Protein binding IPI 16275660, 16899818, 18628984, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 16899818
GO:0005739 Component Mitochondrion IDA 16899818
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q86WG3
Protein name Caytaxin (Ataxia cayman type protein) (BNIP-2-homology) (BNIP-H)
Protein function Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12496 BNIP2
59 187
Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
Family
PF13716 CRAL_TRIO_2
188 326
Divergent CRAL/TRIO domain
Domain
Sequence
Sequence length 371
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cerebellar ataxia CEREBELLAR ATAXIA, CAYMAN TYPE rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887 14556008
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Cerebellar hypoplasia Cerebellar Hypoplasia
Dysarthria Dysarthria

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