Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79675
Gene name	FAST kinase domains 1
Gene symbol	FASTKD1
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q31.1

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553534421	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

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

14 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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20869947, 28238724, 28335001
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0035770	Component	Ribonucleoprotein granule	IBA
GO:0044528	Process	Regulation of mitochondrial mRNA stability	IBA
GO:0044528	Process	Regulation of mitochondrial mRNA stability	IEA
GO:0044528	Process	Regulation of mitochondrial mRNA stability	IMP	28335001

MIM	HGNC	e!Ensembl
617529	26150	ENSG00000138399

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glaucoma 1, open angle, B	Pathogenic	rs1553534421	RCV000663362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Colon adenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
GLAUCOMA 1, OPEN ANGLE, B	Glaucoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma, Primary Open Angle	Glaucoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26001296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34768773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	34768773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with FASTKD1 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for FASTKD1.

Diseases Linked via Similar Genes Diseases curated for genes most similar to FASTKD1 (see Related Genes above), that are NOT already directly curated for FASTKD1 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to FASTKD1.

FASTKD1 (FAST kinase domains 1)

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