• Gene id: 79675

Gene Summary

• Gene Symbol: FASTKD1   Gene   UCSC   Ensembl
• Gene name: FAST kinase domains 1
• Alternate names: FAST kinase domain-containing protein 1, mitochondrial,
• Gene location: 2q31.1 (169573920: 169527879)     Exons: 15     NC_000002.12
• OMIM: 617529

Protein Summary

• Protein general information: Q53R41  
  • Name: FAST kinase domain containing protein 1, mitochondrial
  • Length: 847  
  • Mass: 97411
  • 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
• Sequence:

  MKKTPVFLESLVTNMLRLRAICPFSWRVFQFRPISCEPLIIQMNKCTDEEQMFGFIERNKAILSEKQVGCAFDML
  WKLQKQKTSLLKNAEYVRDHPQFLTLHNLATNKFKLMNDDTLVNVLYVTQQFAGEAHDPLVEALVTEAWRRLERF
  DIKLLSEFSSCLADQHLYFSPLMGKIADIVHRNLETTQDLSSLSVLMVNISSLISRHFQQQLVNKTELLFDTIDS
  SEVNVAKSIAKFLRNVRYRYQPLLERCNNVFLSNVDHLDLDSISKILSVYKFLQFNSFEFIIMAKKKLTEMIPLC
  NHPASFVKLFVALGPIAGPEEKKQLKSTMLLMSEDLTGEQALAVLGAMGDMESRNSCLIKRVTSVLHKHLDGYKP
  LELLKITQELTFLHFQRKEFFAKLRELLLSYLKNSFIPTEVSVLVRAISLLPSPHLDEVGISRIEAVLPQCDLNN
  LSSFATSVLRWIQHDHMYLDNMTAKQLKLLQKLDHYGRQRLQHSNSLDLLRKELKSLKGNTFPESLLEEMIATLQ
  HFMDDINYINVGEIASFISSTDYLSTLLLDRIASVAVQQIEKIHPFTIPAIIRPFSVLNYDPPQRDEFLGTCVQH
  LNSYLGILDPFILVFLGFSLATLEYFPEDLLKAIFNIKFLARLDSQLEILSPSRSARVQFHLMELNRSVCLECPE
  FQIPWFHDRFCQQYNKGIGGMDGTQQQIFKMLAEVLGGINCVKASVLTPYYHKVDFECILDKRKKPLPYGSHNIA
  LGQLPEMPWESNIEIVGSRLPPGAERIALEFLDSKALCRNIPHMKGKSAMKKRHLEILGYRVIQISQFEWNSMAL
  STKDARMDYLRECIFGEVKSCL

• Structural information:
  • Protein Domains: (777..83-)
    (/note="RAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00619"-)
  • Interpro: IPR013579  IPR010622  IPR013584  
  • Prosite: PS51286
  • STRING: ENSP00000400513
• Other Databases: GeneCards:  FASTKD1  Malacards:  FASTKD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0044528	regulation of mitochondrial mRNA stability	IMP	biological process
GO:0000959	mitochondrial RNA metabolic process	IMP	biological process
GO:0044528	regulation of mitochondrial mRNA stability	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq