FASTKD1 (FAST kinase domains 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79675
Gene name Gene Name - the full gene name approved by the HGNC.
FAST kinase domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FASTKD1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1553534421 A>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000959 Process Mitochondrial RNA metabolic process IMP 28335001
GO:0000963 Process Mitochondrial RNA processing IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617529 26150 ENSG00000138399
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in heart. {ECO:0000269|PubMed:20869947}.
Sequence 
MKKTPVFLESLVTNMLRLRAICPFSWRVFQFRPISCEPLIIQMNKCTDEEQMFGFIERNK
AILSEKQVGCAFDMLWKLQKQKTSLLKNAEYVRDHPQFLTLHNLATNKFKLMNDDTLVNV
LYVTQQFAGEAHDPLVEALVTEAWRRLERFDIKLLSEFSSCLADQHLYFSPLMGKIADIV
HRNLETTQDLSSLSVLMVNISSLISRHFQQQLVNKTELLFDTIDSSEVNVAKSIAKFLRN
VRYRYQPLLERCNNVFLSNVDHLDLDSISKILSVYKFLQFNSFEFIIMAKKKLTEMIPLC
NHPASFVKLFVALGPIAGPEEKKQLKSTMLLMSEDLTGEQALAVLGAMGDMESRNSCLIK
RVTSVLHKHLDGYKPLELLKITQELTFLHFQRKEFFAKLRELLLSYLKNSFIPTEVSVLV
RAISLLPSPHLDEVGISRIEAVLPQCDLNNLSSFATSVLRWIQHDHMYLDNMTAKQLKLL
QKLDHYGRQRLQHSNSLDLLRKELKSLKGNTFPESLLEEMIATLQHFMDDINYINVGEIA
SFISSTDYLSTLLLDRIASVAVQQIEKIHPFTIPAIIRPFSVLNYDPPQRDEFLGTCVQH
LNSYLGILDPFILVFLGFSLATLEYFPEDLLKAIFNIKFLARLDSQLEILSPSRSARVQF
HLMELNRSVCLECPEFQIPWFHDRFCQQYNKGIGGMDGTQQQIFKMLAEVLGGINCVKAS
VLTPYYHKVDFECILDKRKKPLPYGSHNIALGQLPEMPWESNIEIVGSRLPPGAERIALE
FLDSKALCRNIPHMKGKSAMKKRHLEILGYRVIQISQFEWNSMALSTKDARMDYLRECIF
GEVKSCL
Sequence length 847
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Open Angle Glaucoma glaucoma 1, open angle, b rs1553534421 N/A
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Leukemia Associate 26001296
Melanoma Associate 34768773
Neoplasms Associate 34768773
Uterine Neoplasms Associate 34768773