ATCAY (ATCAY kinesin light chain interacting caytaxin)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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85300 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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ATCAY |
SynonymsGene synonyms aliases
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BNIP-H, CLAC |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
371 |
Interactions |
View interactions |
Associated diseases
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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 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebellar hypoplasia |
Cerebellar Hypoplasia |
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Dysarthria |
Dysarthria |
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