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Gene id 51300
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol TIMMDC1   Gene   UCSC   Ensembl
Aliases C3orf1, MC1DN31
Gene name translocase of inner mitochondrial membrane domain containing 1
Alternate names complex I assembly factor TIMMDC1, mitochondrial, M5-14 protein, TIMM domain containing-protein 1, translocase of inner mitochondrial membrane domain-containing protein 1, transmembrane protein C3orf1,
Gene location 3q13.33 (119498524: 119525089)     Exons: 7     NC_000003.12
OMIM 615534

Protein Summary
Protein general information Q9NPL8  

Name: Complex I assembly factor TIMMDC1, mitochondrial (Protein M5 14) (Translocase of inner mitochondrial membrane domain containing protein 1) (TIMM domain containing protein 1)

Length: 285  Mass: 32178

Tissue specificity: Generalized expression enhanced in heart and skeletal muscle. {ECO

Sequence MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPYVPEPYYPESGWDRLRELFGKDEQQRISKDLA
NICKTAATAGIIGWVYGGIPAFIHAKQQYIEQSQAEIYHNRFDAVQSAHRAATRGFIRYGWRWGWRTAVFVTIFN
TVNTSLNVYRNKDALSHFVIAGAVTGSLFRINVGLRGLVAGGIIGALLGTPVGGLLMAFQKYSGETVQERKQKDR
KALHELKLEEWKGRLQVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNPSVIDKQDKD
Structural information
MINT:  
STRING:   ENSP00000418803
Other Databases GeneCards:  TIMMDC1  Malacards:  TIMMDC1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005739 mitochondrion
 IBA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016020 membrane
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0005743 mitochondrial inner membr
ane
 TAS cellular component
GO:0032981 mitochondrial respiratory
chain complex I assembly
 TAS biological process
GO:0005739 mitochondrion
 IDA 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: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: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: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: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: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: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: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: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: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:0031966 mitochondrial membrane
 IEA cellular component
GO:0005739 mitochondrion
 IDA cellular component
GO:0005654 nucleoplasm
 IDA cellular component

Diseases

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Associated diseases References
Mitochondrial complex I deficiency KEGG:H00473
Mitochondrial complex I deficiency KEGG:H00473
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
31037746 Spermatoge
nic defect
s
16 (1 control,
15 cases)
 Male infertility GSE6023 analyzed using GEO2R
 Show abstract
31037746 Spermatoge
nic defect
s
16 (1 control,
15 cases)
 Male infertility GSE6023 analyzed using GEO2R
 Show abstract