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Gene id 10245
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol TIMM17B   Gene   UCSC   Ensembl
Aliases DXS9822, JM3, TIM17B
Gene name translocase of inner mitochondrial membrane 17B
Alternate names mitochondrial import inner membrane translocase subunit Tim17-B, inner mitochondrial membrane preprotein translocase, translocase of inner mitochondrial membrane 17 homolog B,
Gene location Xp11.23 (48898142: 48893446)     Exons: 8     NC_000023.11
Gene summary(Entrez) This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane
OMIM 300249

Protein Summary

Protein general information O60830  

Name: Mitochondrial import inner membrane translocase subunit Tim17 B

Length: 172  Mass: 18273

Tissue specificity: Expression is abundant in heart and skeletal muscle, intermediate in brain, and weak in pancreas, placenta, kidney and liver.

Sequence MEEYAREPCPWRIVDDCGGAFTMGVIGGGVFQAIKGFRNAPVGIRHRLRGSANAVRIRAPQIGGSFAVWGGLFST
IDCGLVRLRGKEDPWNSITSGALTGAVLAARSGPLAMVGSAMMGGILLALIEGVGILLTRYTAQQFRNAPPFLED
PSQLPPKDGTPAPGYPSYQQYH
Structural information
Interpro:  IPR005678  
MINT:  
Other Databases GeneCards:  TIMM17B  Malacards:  TIMM17B

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0030150 protein import into mitoc
hondrial matrix
IBA biological process
GO:0005744 TIM23 mitochondrial impor
t inner membrane transloc
ase complex
IBA cellular component
GO:0031305 integral component of mit
ochondrial inner membrane
IBA cellular component
GO:0005744 TIM23 mitochondrial impor
t inner membrane transloc
ase complex
IEA cellular component
GO:0006886 intracellular protein tra
nsport
IEA biological process
GO:0015450 P-P-bond-hydrolysis-drive
n protein transmembrane t
ransporter activity
IEA molecular function
GO:0015031 protein transport
IEA biological process
GO:0016020 membrane
IEA cellular component
GO:0005743 mitochondrial inner membr
ane
IEA cellular component
GO:0005739 mitochondrion
IEA cellular component
GO:0016021 integral component of mem
brane
IEA cellular component
GO:0015031 protein transport
IEA biological process
GO:0006626 protein targeting to mito
chondrion
TAS biological process
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:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005744 TIM23 mitochondrial impor
t inner membrane transloc
ase complex
IDA cellular component
GO:0031305 integral component of mit
ochondrial inner membrane
IDA cellular component
GO:0005743 mitochondrial inner membr
ane
IEA cellular component
GO:0005743 mitochondrial inner membr
ane
IDA cellular component
Associated diseases References
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract