TIMMDC1 - translocase of inner mitochondrial membrane domain containing 1 Gene

Also Known as C3orf1; MC1DN31

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51300

About TIMMDC1

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:119,498,547-119,525,090 (from NCBI)

This gene has 9 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues.

Summary

Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Apr 2022]

TIMMDC1 Products (1)

mRNA Protein Name
NM_016589.4 NP_057673.2 complex I assembly factor TIMMDC1, mitochondrial precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TIMMDC1 Protein Structure

Tim17

Tim17: Tim17/Tim22/Tim23/Pmp24 family (75 - 205)

  • 0
  • 100
  • 200
  • 285 a.a.
Protein Preferred Names Protein Names

complex I assembly factor TIMMDC1, mitochondrial

  • M5-14 protein

TIMMDC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TIMMDC1 Q9NPL8 PTPRN Homo sapiens Q16849-3 32296183
Intra
TIMMDC1 Q9NPL8 KIR2DL4 Homo sapiens Q99706 32296183
Intra
TIMMDC1 Q9NPL8 KIR2DL4 Homo sapiens Q99706 32296183
Intra
TIMMDC1 Q9NPL8 TVP23B Homo sapiens Q9NYZ1 32296183
Intra
TIMMDC1 Q9NPL8 GPX8 Homo sapiens Q8TED1 32296183
Intra
TIMMDC1 Q9NPL8 GPX8 Homo sapiens Q8TED1 32296183
Intra
TIMMDC1 Q9NPL8 PEX5 Homo sapiens P50542-3 32296183
Intra
TIMMDC1 Q9NPL8 PEX5 Homo sapiens P50542-3 32296183
Intra
TIMMDC1 Q9NPL8 NDUFB11 Homo sapiens Q9NX14 33961781
Intra
TIMMDC1 Q9NPL8 NDUFB11 Homo sapiens Q9NX14 32296183
Intra
TIMMDC1 Q9NPL8 RNF24 Homo sapiens Q9Y225-2 32296183
Intra
TIMMDC1 Q9NPL8 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TIMMDC1 Q9NPL8 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TIMMDC1 Q9NPL8 EPGN Homo sapiens Q6UW88-2 32296183
Intra
TIMMDC1 Q9NPL8 EPGN Homo sapiens Q6UW88-2 32296183
Intra
TIMMDC1 Q9NPL8 HSD17B13 Homo sapiens Q7Z5P4 32296183
Intra
TIMMDC1 Q9NPL8 HSD17B13 Homo sapiens Q7Z5P4 32296183
Intra
TIMMDC1 Q9NPL8 APOC4 Homo sapiens P55056 32296183
Intra
TIMMDC1 Q9NPL8 APOC4 Homo sapiens P55056 32296183
Intra
TIMMDC1 Q9NPL8 FAM210B Homo sapiens Q96KR6 32296183
Intra
TIMMDC1 Q9NPL8 FAM210B Homo sapiens Q96KR6 32296183
Intra
TIMMDC1 Q9NPL8 MARCHF5 Homo sapiens Q9NX47 32296183
Intra
TIMMDC1 Q9NPL8 ARL6IP6 Homo sapiens Q8N6S5 32296183
Intra
TIMMDC1 Q9NPL8 MFSD14B Homo sapiens Q5SR56 32296183
Intra
TIMMDC1 Q9NPL8 MFSD14B Homo sapiens Q5SR56 32296183
Intra
TIMMDC1 Q9NPL8 DIABLO Homo sapiens Q9NR28 32296183
Intra
TIMMDC1 Q9NPL8 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
TIMMDC1 Q9NPL8 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
TIMMDC1 Q9NPL8 FATE1 Homo sapiens Q969F0 25416956
Intra
TIMMDC1 Q9NPL8 YIPF1 Homo sapiens Q9Y548 32296183
Intra
TIMMDC1 Q9NPL8 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TIMMDC1 Q9NPL8 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
TIMMDC1 Q9NPL8 TMEM14B Homo sapiens Q9NUH8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

TIMMDC1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811325 TIMMDC1 Antibody WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Mitochondrial Complex I Deficiency, Nuclear Type 31
  • MC1DN31

  • Mitochondrial Complex 1 Deficiency, Nuclear Type 31

  • Nuclear Type Mitochondrial Complex I Deficiency 31

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency
  • Mc1dn

  • Mitochondrial Complex I Deficiency, Nuclear Type

  • Mitochondrial Complex I Deficiency, Nuclear

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Cardiomyopathy, Dilated, 1hh
  • Dilated Cardiomyopathy 1hh

  • CMD1HH

  • Cardiomyopathy, Dilated 1hh

  • Cardiomyopathy, Dilated, Type 1hh

Mitochondrial Dna Depletion Syndrome 9
  • MTDPS9

  • Fatal Infantile Lactic Acidosis

  • Lactic Acidosis, Fatal Infantile, Formerly

  • Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

  • Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

  • Mitochondrial Dna Depletion Syndrome, Type 9

  • Lactic Acidosis, Fatal Infantile

Leukodystrophy
  • Leukodystrophies

Sengers Syndrome
  • Mitochondrial Dna Depletion Syndrome 10

  • Cardiomyopathy And Cataract

  • Cataract And Cardiomyopathy

  • MTDPS10

  • Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

  • Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

  • Senger Syndrome

Myopathy
  • Muscular Diseases

  • Myopathies

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus TIMMDC1 VGNC VGNC:49579
Canis familiaris TIMMDC1 VGNC VGNC:49626
Mus musculus TIMMDC1 MGD MGI:1922139
Macaca mulatta TIMMDC1 VGNC VGNC:78377
Felis catus TIMMDC1 VGNC VGNC:66192
Rattus norvegicus TIMMDC1 RGD RGD:1359380
Others TIMMDC1 NCBI