Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79675 |
Gene nameGene Name - the full gene name approved by the HGNC.
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FAST kinase domains 1 |
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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FASTKD1 |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q31.1 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1553534421 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
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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
|
UniProt ID |
Q53R41 |
Protein name |
FAST kinase domain-containing protein 1, mitochondrial |
Protein function |
Involved in the down-regulation of mitochondrial MT-ND3 mRNA levels which leads to decreased respiratory complex I abundance and activity. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06743 |
FAST_1 |
575 → 642 |
FAST kinase-like protein, subdomain 1 |
Family |
PF08368 |
FAST_2 |
659 → 743 |
FAST kinase-like protein, subdomain 2 |
Family |
PF08373 |
RAP |
779 → 838 |
RAP domain |
Domain |
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Sequence |
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Sequence length |
847 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Glaucoma |
Glaucoma, Primary Open Angle, GLAUCOMA 1, OPEN ANGLE, B |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 |
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