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Gene id 79072
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol FASTKD3   Gene   UCSC   Ensembl
Gene name FAST kinase domains 3
Alternate names FAST kinase domain-containing protein 3, mitochondrial,
Gene location 5p15.31 (7869036: 7859158)     Exons: 7     NC_000005.10
Gene summary(Entrez) This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-bind

SNPs


rs1801394

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.7870860A>G
NC_000005.9   g.7870973A>G
NG_008856.1   g.6757A>G
NM_024010.4   c.66A>G
NM_024010.3   c.66A>G
NM_024010.2   c.147A>G
NM_002454.3   c.66A>G
NM_002454.2   c.66A>G
NM_001364440.2   c.66A>G
NM_001364440.1   c.66A>G
NM_001364441.2   c.66A>G
NM_0013  

Protein Summary

Protein general information Q14CZ7  

Name: FAST kinase domain containing protein 3, mitochondrial

Length: 662  Mass: 75689

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 liver and thyroid. {ECO

Sequence MALITLRKNLYRLSDFQMHRALAALKNKPLNHVHKVVKERLCPWLCSRQPEPFGVKFHHAHCKKFHSKNGNDLHP
LGGPVFSQVSDCDRLEQNVKNEESQMFYRRLSNLTSSEEVLSFISTMETLPDTMAAGALQRICEVEKKDGDQGLP
KEILENSIFQALCFQFEKEPSQLSNTSLVTALQALILLHVDPQSSLLLNLVAECQNRLRKGGMEVRNLCILGESL
ITLHSSGCVTLELIINQLQGEKLETFTPEDIVALYRILQACTEKVDEHQTFLNKINNFSLSIVSNLSPKLISQML
TALVVLDQSQAFPLIIKLGKYVVRHVPHFTNEELRRVLEAFIYFGHHDTFFTKALEHRVAAVCLTLDPEVVCRVM
EYCSRELILSKPILNAVAETFVCQTEKFSPRQISALMEPFGKLNYLPPNASALFRKLENVLFTHFNYFPPKSLLK
LLHSCSLNECHPVNFLAKIFKPLFLQRLQGKESHLDTLSRAQLTQLFLASVLECPFYKGPKLLPKYQVKSFLTPC
CSLETPVDSQLYRYVKIGLTNLLGARLYFAPKVLTPYCYTIDVEIKLDEEGFVLPSTANEDIHKRIALCIDGPKR
FCSNSKHLLGKEAIKQRHLQLLGYQVVQIPYHEIGMLKSRRELVEYLQRKLFSQNTVHWLQE
Structural information
Protein Domains
(591..64-)
(/note="RAP-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00619"-)
Interpro:  IPR013579  IPR010622  IPR013584  
Prosite:   PS51286
STRING:   ENSP00000264669
Other Databases GeneCards:  FASTKD3  Malacards:  FASTKD3

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0044528 regulation of mitochondri
al mRNA stability
IDA biological process
GO:0070131 positive regulation of mi
tochondrial translation
IDA biological process
GO:0005739 mitochondrion
IDA cellular component
GO:0033617 mitochondrial cytochrome
c oxidase assembly
IDA biological process
GO:0044528 regulation of mitochondri
al mRNA stability
IEA biological process
GO:0005739 mitochondrion
IEA cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005739 mitochondrion
IEA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:0005739 mitochondrion
IDA cellular component
GO:0005739 mitochondrion
IDA cellular component
GO:0003723 RNA binding
HDA molecular function
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract