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 |
|
Other Databases |
GeneCards: TIMM17B  Malacards: TIMM17B |
|
GO accession | Term name | Evidence code | Go 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 |
|
|
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 |
|