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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic	rs2473061402	RCV003219141
Mitochondrial complex I deficiency, nuclear type 31	Likely pathogenic; Pathogenic	rs752776605, rs773031917, rs2473061411, rs781525096, rs970547270	RCV002288320 RCV002308566 RCV003226819 RCV000493542 RCV001263090

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs200200314	RCV005921394
Cervical cancer	Benign	rs200200314	RCV005921396
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs200200314	RCV005921405
Familial cancer of breast	Benign	rs200200314	RCV005921393
Gastric cancer	Benign	rs200200314	RCV005921399
Leigh syndrome	-	rs149481081	RCV000735814
Lung cancer	Benign	rs200200314	RCV005921404
Lymphoma	Benign	rs200200314	RCV005921400
Melanoma	Benign	rs200200314	RCV005921403
Nonpapillary renal cell carcinoma	Benign	rs200200314	RCV005921395
Ovarian cancer	Benign	rs200200314	RCV005921397
Ovarian serous cystadenocarcinoma	Benign	rs200200314	RCV005921401
Sarcoma	Benign	rs200200314	RCV005921398
See cases	Conflicting classifications of pathogenicity	rs142096113	RCV002252607
Thyroid cancer, nonmedullary, 1	Benign	rs200200314	RCV005921402
TIMMDC1-related disorder	Benign; Likely benign	rs58978800, rs1131265, rs11539377, rs57168946, rs149492706, rs150396264, rs34932768, rs775801926, rs781720425	RCV003978744 RCV003978791 RCV003978520 RCV003968735 RCV003903460 RCV003950960 RCV003966539 RCV003944496 RCV003914580

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Stimulate	40409178
Cardiomyopathies	Associate	38291374
Immunoglobulin G4 Related Disease	Associate	33278652
Leigh Disease	Associate	30981218
Liver Cirrhosis Biliary	Associate	25690649, 30643196
Lung Neoplasms	Associate	25391042
Mitochondrial complex I deficiency	Associate	24344204, 33278652
Mitochondrial Diseases	Associate	33278652
Myopathy with Giant Abnormal Mitochondria	Associate	38291374

TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1)