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FASTKD1 (FAST kinase domains 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79675
Gene nameGene Name - the full gene name approved by the HGNC.
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.
FASTKD1
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1553534421 A>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020757 hsa-miR-155-5p Proteomics 18668040
MIRT051056 hsa-miR-16-5p CLASH 23622248
MIRT050422 hsa-miR-23a-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000959 Process Mitochondrial RNA metabolic process IMP 28335001
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 32814053
GO:0005739 Component Mitochondrion IDA 20869947, 28238724, 28335001
GO:0044528 Process Regulation of mitochondrial mRNA stability IMP 28335001
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MKKTPVFLESLVTNMLRLRAICPFSWRVFQFRPISCEPLIIQMNKCTDEEQMFGFIERNK
AILSEKQVGCAFDMLWKLQKQKTSLLKNAEYVRDHPQFLTLHNLATNKFKLMNDDTLVNV
LYVTQQFAGEAHDPLVEALVTEAWRRLERFDIKLLSEFSSCLADQHLYFSPLMGKIADIV
HRNLETTQDLSSLSVLMVNISSLISRHFQQQLVNKTELLFDTIDSSEVNVAKSIAKFLRN
VRYRYQPLLERCNNVFLSNVDHLDLDSISKILSVYKFLQFNSFEFIIMAKKKLTEMIPLC
NHPASFVKLFVALGPIAGPEEKKQLKSTMLLMSEDLTGEQALAVLGAMGDMESRNSCLIK
RVTSVLHKHLDGYKPLELLKITQELTFLHFQRKEFFAKLRELLLSYLKNSFIPTEVSVLV
RAISLLPSPHLDEVGISRIEAVLPQCDLNNLSSFATSVLRWIQHDHMYLDNMTAKQLKLL
QKLDHYGRQRLQHSNSLDLLRKELKSLKGNTFPESLLEEMIATLQHFMDDINYINVGEIA
SFISSTDYLSTLLLDRIASVAVQQIEKIHPFTIPAIIRPFSVLNYDPPQRDEFLGTCVQH
LNSYLGILDPFILVFLGFSLATLEYFPEDLLKAIFNIKFLAR
LDSQLEILSPSRSARVQF
HLMELNRSVCLECPEFQIPWFHDRFCQQYNKGIGGMDGTQQQIFKMLAEVLGGINCVKAS
VLTPYYHKVDFECILDKRKKPLP
YGSHNIALGQLPEMPWESNIEIVGSRLPPGAERIALE
FLDSKALCRNIPHMKGKSAMKKRHLEILGYRVIQISQFEWNSMALSTKDARMDYLREC
IF
GEVKSCL
Sequence length 847
Interactions View interactions
Associated diseases
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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