Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51300
Gene name	Translocase of inner mitochondrial membrane domain containing 1
Gene symbol	TIMMDC1
Synonyms (NCBI Gene)	C3orf1MC1DN31
Chromosome	3
Chromosome location	3q13.33

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370482859	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs781525096	A>G	Pathogenic	Intron variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050760	hsa-miR-17-3p	CLASH	23622248
MIRT526361	hsa-miR-4323	PAR-CLIP	22012620
MIRT526359	hsa-miR-3189-5p	PAR-CLIP	22012620
MIRT526361	hsa-miR-4323	PAR-CLIP	22012620
MIRT526359	hsa-miR-3189-5p	PAR-CLIP	22012620
MIRT1425161	hsa-miR-106a	CLIP-seq
MIRT1425162	hsa-miR-106b	CLIP-seq
MIRT1425163	hsa-miR-17	CLIP-seq
MIRT1425164	hsa-miR-20a	CLIP-seq
MIRT1425165	hsa-miR-20b	CLIP-seq
MIRT1425166	hsa-miR-214	CLIP-seq
MIRT1425167	hsa-miR-3609	CLIP-seq
MIRT1425168	hsa-miR-3619-5p	CLIP-seq
MIRT1425169	hsa-miR-3677-5p	CLIP-seq
MIRT1425170	hsa-miR-3929	CLIP-seq
MIRT1425171	hsa-miR-4291	CLIP-seq
MIRT1425172	hsa-miR-4419b	CLIP-seq
MIRT1425173	hsa-miR-4478	CLIP-seq
MIRT1425174	hsa-miR-4690-5p	CLIP-seq
MIRT1425175	hsa-miR-4693-3p	CLIP-seq
MIRT1425176	hsa-miR-4796-3p	CLIP-seq
MIRT1425177	hsa-miR-513a-3p	CLIP-seq
MIRT1425178	hsa-miR-519d	CLIP-seq
MIRT1425179	hsa-miR-548ah	CLIP-seq
MIRT1425180	hsa-miR-761	CLIP-seq
MIRT1425181	hsa-miR-922	CLIP-seq
MIRT1425182	hsa-miR-93	CLIP-seq
MIRT1425175	hsa-miR-4693-3p	CLIP-seq
MIRT2349230	hsa-miR-607	CLIP-seq
MIRT2642546	hsa-miR-1256	CLIP-seq
MIRT2642547	hsa-miR-1267	CLIP-seq
MIRT2642548	hsa-miR-1297	CLIP-seq
MIRT2642549	hsa-miR-140-3p	CLIP-seq
MIRT2642550	hsa-miR-1825	CLIP-seq
MIRT2642551	hsa-miR-199a-5p	CLIP-seq
MIRT2642552	hsa-miR-199b-5p	CLIP-seq
MIRT1425166	hsa-miR-214	CLIP-seq
MIRT2642553	hsa-miR-26a	CLIP-seq
MIRT2642554	hsa-miR-26b	CLIP-seq
MIRT2642555	hsa-miR-3120-5p	CLIP-seq
MIRT2642556	hsa-miR-3174	CLIP-seq
MIRT1425168	hsa-miR-3619-5p	CLIP-seq
MIRT1425169	hsa-miR-3677-5p	CLIP-seq
MIRT2642557	hsa-miR-3925-3p	CLIP-seq
MIRT1425170	hsa-miR-3929	CLIP-seq
MIRT2642558	hsa-miR-4287	CLIP-seq
MIRT1425171	hsa-miR-4291	CLIP-seq
MIRT1425172	hsa-miR-4419b	CLIP-seq
MIRT2642559	hsa-miR-4421	CLIP-seq
MIRT2642560	hsa-miR-4465	CLIP-seq
MIRT1425173	hsa-miR-4478	CLIP-seq
MIRT2642561	hsa-miR-4642	CLIP-seq
MIRT2642562	hsa-miR-4643	CLIP-seq
MIRT2642563	hsa-miR-466	CLIP-seq
MIRT2642564	hsa-miR-4660	CLIP-seq
MIRT2642565	hsa-miR-4685-3p	CLIP-seq
MIRT1425174	hsa-miR-4690-5p	CLIP-seq
MIRT2642566	hsa-miR-4715-3p	CLIP-seq
MIRT2642567	hsa-miR-4760-5p	CLIP-seq
MIRT2642568	hsa-miR-4789-3p	CLIP-seq
MIRT2642569	hsa-miR-498	CLIP-seq
MIRT1425177	hsa-miR-513a-3p	CLIP-seq
MIRT2642570	hsa-miR-634	CLIP-seq
MIRT1425180	hsa-miR-761	CLIP-seq
MIRT2642571	hsa-miR-766	CLIP-seq
MIRT2642572	hsa-miR-885-3p	CLIP-seq
MIRT1425181	hsa-miR-922	CLIP-seq
MIRT2642546	hsa-miR-1256	CLIP-seq
MIRT2642547	hsa-miR-1267	CLIP-seq
MIRT2642548	hsa-miR-1297	CLIP-seq
MIRT2642549	hsa-miR-140-3p	CLIP-seq
MIRT2642550	hsa-miR-1825	CLIP-seq
MIRT2642551	hsa-miR-199a-5p	CLIP-seq
MIRT2642552	hsa-miR-199b-5p	CLIP-seq
MIRT1425166	hsa-miR-214	CLIP-seq
MIRT2642553	hsa-miR-26a	CLIP-seq
MIRT2642554	hsa-miR-26b	CLIP-seq
MIRT2642555	hsa-miR-3120-5p	CLIP-seq
MIRT2642556	hsa-miR-3174	CLIP-seq
MIRT1425168	hsa-miR-3619-5p	CLIP-seq
MIRT1425169	hsa-miR-3677-5p	CLIP-seq
MIRT2642557	hsa-miR-3925-3p	CLIP-seq
MIRT1425170	hsa-miR-3929	CLIP-seq
MIRT2642558	hsa-miR-4287	CLIP-seq
MIRT1425171	hsa-miR-4291	CLIP-seq
MIRT1425172	hsa-miR-4419b	CLIP-seq
MIRT2642559	hsa-miR-4421	CLIP-seq
MIRT2642560	hsa-miR-4465	CLIP-seq
MIRT1425173	hsa-miR-4478	CLIP-seq
MIRT2642561	hsa-miR-4642	CLIP-seq
MIRT2642562	hsa-miR-4643	CLIP-seq
MIRT2642563	hsa-miR-466	CLIP-seq
MIRT2642564	hsa-miR-4660	CLIP-seq
MIRT2642565	hsa-miR-4685-3p	CLIP-seq
MIRT1425174	hsa-miR-4690-5p	CLIP-seq
MIRT2642566	hsa-miR-4715-3p	CLIP-seq
MIRT2642567	hsa-miR-4760-5p	CLIP-seq
MIRT2642568	hsa-miR-4789-3p	CLIP-seq
MIRT2642569	hsa-miR-498	CLIP-seq
MIRT1425177	hsa-miR-513a-3p	CLIP-seq
MIRT2642570	hsa-miR-634	CLIP-seq
MIRT1425180	hsa-miR-761	CLIP-seq
MIRT2642571	hsa-miR-766	CLIP-seq
MIRT2642572	hsa-miR-885-3p	CLIP-seq
MIRT1425181	hsa-miR-922	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 33753518, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA

MIM	HGNC	e!Ensembl
615534	1321	ENSG00000113845

Q9NPL8

Protein name

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

Protein function

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02466	Tim17	77 → 199		Family

Tissue specificity

TISSUE SPECIFICITY: Generalized expression enhanced in heart and skeletal muscle. {ECO:0000269|PubMed:11092749}.

Sequence

MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPYVPEPYYPESGWDRLRE
LFGKDEQQRISKDLANICKTAATAGIIGWVYGGIPAFIHAKQQYIEQSQAEIYHNRFDAV
QSAHRAATRGFIRYGWRWGWRTAVFVTIFNTVNTSLNVYRNKDALSHFVIAGAVTGSLFR
INVGLRGLVAGGIIGALLGTPVGGLLMAFQKYSGETVQERKQKDRKALHELKLEEWKGRL
QVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNPSVIDKQDKD

Sequence length

285

Interactions

View interactions

	Reactome
			Complex I biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic	rs2473061402	RCV003219141	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 31	Likely pathogenic; Pathogenic	rs752776605, rs773031917, rs2473061411, rs781525096, rs970547270	RCV002288320 RCV002308566 RCV003226819 RCV000493542 RCV001263090	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	-	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIMMDC1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	30528236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	40409178	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	GWASCAT_DG	21399635, 23000144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25391042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	38291374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	22354554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASDB_DG	22354554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	30981218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	30981218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	25690649, 30643196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25391042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30123074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	24344204, 33278652	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	28604674		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	28604674		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33278652	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088, 24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	21399635, 22961000, 23000144, 26394269, 28062665, 30643196		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635, 22936693, 22961000, 23000144		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30123074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★★★★★ ★☆☆☆☆ Found in Text Mining only

TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1)