Details for: TIMMDC1

Gene ID: 51300

Symbol: TIMMDC1

Ensembl ID: ENSG00000113845

Description: translocase of inner mitochondrial membrane domain containing 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 239.7373
    Cell Significance Index: -37.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 139.7237
    Cell Significance Index: -35.4400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 110.0504
    Cell Significance Index: -45.3400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 96.1350
    Cell Significance Index: -45.3900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 91.6415
    Cell Significance Index: -37.2300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 83.1672
    Cell Significance Index: -42.7800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.1728
    Cell Significance Index: -37.4000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.2916
    Cell Significance Index: -42.2800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.8235
    Cell Significance Index: -39.7100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.0110
    Cell Significance Index: -43.4500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.9008
    Cell Significance Index: -30.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.6396
    Cell Significance Index: -16.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.8364
    Cell Significance Index: 1658.1700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.6807
    Cell Significance Index: 100.9000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.3411
    Cell Significance Index: 35.8100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0192
    Cell Significance Index: 125.3200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9982
    Cell Significance Index: 179.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9594
    Cell Significance Index: 49.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9373
    Cell Significance Index: 43.7000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8871
    Cell Significance Index: 484.4700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7793
    Cell Significance Index: 53.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7375
    Cell Significance Index: 20.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7299
    Cell Significance Index: 100.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6990
    Cell Significance Index: 140.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6305
    Cell Significance Index: 48.3800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6282
    Cell Significance Index: 434.4600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6169
    Cell Significance Index: 122.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5165
    Cell Significance Index: 228.3700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4937
    Cell Significance Index: 63.2900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4849
    Cell Significance Index: 4.4700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4768
    Cell Significance Index: 33.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4389
    Cell Significance Index: 43.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4142
    Cell Significance Index: 48.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3914
    Cell Significance Index: 8.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3667
    Cell Significance Index: 131.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3046
    Cell Significance Index: 14.3200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2394
    Cell Significance Index: 5.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2336
    Cell Significance Index: 14.7200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2042
    Cell Significance Index: 7.1000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1720
    Cell Significance Index: 3.6000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1572
    Cell Significance Index: 29.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1437
    Cell Significance Index: 6.5200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1405
    Cell Significance Index: 9.0700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1403
    Cell Significance Index: 3.6900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1351
    Cell Significance Index: 10.0700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1256
    Cell Significance Index: 3.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1112
    Cell Significance Index: 18.9900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0883
    Cell Significance Index: 2.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0617
    Cell Significance Index: 7.9700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0610
    Cell Significance Index: 0.9000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0428
    Cell Significance Index: 80.5200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0222
    Cell Significance Index: 16.2500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0219
    Cell Significance Index: 3.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0070
    Cell Significance Index: 12.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0024
    Cell Significance Index: 1.7900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0009
    Cell Significance Index: -0.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0065
    Cell Significance Index: -9.9700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0099
    Cell Significance Index: -7.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0121
    Cell Significance Index: -7.5500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0220
    Cell Significance Index: -29.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0251
    Cell Significance Index: -11.3900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0307
    Cell Significance Index: -1.6100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0430
    Cell Significance Index: -0.7200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0481
    Cell Significance Index: -4.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0524
    Cell Significance Index: -29.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0615
    Cell Significance Index: -1.9700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0633
    Cell Significance Index: -1.7000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0993
    Cell Significance Index: -3.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0993
    Cell Significance Index: -20.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1229
    Cell Significance Index: -35.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1253
    Cell Significance Index: -7.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1297
    Cell Significance Index: -15.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1448
    Cell Significance Index: -16.5900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1499
    Cell Significance Index: -21.8000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1764
    Cell Significance Index: -4.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2032
    Cell Significance Index: -12.4900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2516
    Cell Significance Index: -7.3900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2529
    Cell Significance Index: -5.4100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2681
    Cell Significance Index: -30.6000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2755
    Cell Significance Index: -3.1300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3149
    Cell Significance Index: -8.0500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3297
    Cell Significance Index: -26.1100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3333
    Cell Significance Index: -17.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3738
    Cell Significance Index: -38.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4028
    Cell Significance Index: -10.0700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4170
    Cell Significance Index: -5.6900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4261
    Cell Significance Index: -28.6500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4590
    Cell Significance Index: -4.9900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4731
    Cell Significance Index: -5.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5474
    Cell Significance Index: -24.2200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5666
    Cell Significance Index: -28.6300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5756
    Cell Significance Index: -35.2900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6477
    Cell Significance Index: -17.3300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6751
    Cell Significance Index: -5.3900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6945
    Cell Significance Index: -26.3000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.7181
    Cell Significance Index: -10.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7298
    Cell Significance Index: -20.9200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8023
    Cell Significance Index: -23.6300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.8495
    Cell Significance Index: -16.5800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.8865
    Cell Significance Index: -15.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TIMMDC1 is a transmembrane protein, specifically localized to the inner mitochondrial membrane, where it interacts with other proteins essential for Complex I biogenesis and assembly. The gene product, TIDC1, contains a characteristic transmembrane domain, facilitating its insertion into the mitochondrial membrane. Its expression is tightly regulated, with significant variations observed across different cell types and developmental stages. **Pathways and Functions:** TIMMDC1 is intricately involved in several key pathways, including: 1. **Aerobic Respiration and Respiratory Electron Transport:** TIMMDC1 contributes to the biogenesis and assembly of Complex I, a critical enzyme complex in the mitochondrial respiratory electron transport chain, which is essential for the production of ATP and the maintenance of cellular energy homeostasis. 2. **Complex I Biogenesis:** TIMMDC1 interacts with other proteins, such as TIMM17A, to facilitate the assembly of Complex I, ensuring its proper functioning and localization within the mitochondrial membrane. 3. **Metabolism:** The expression of TIMMDC1 is linked to various metabolic processes, including glycolysis, the citric acid cycle, and fatty acid oxidation, highlighting its role in maintaining cellular energy balance. 4. **Mitochondrial Inner Membrane:** TIMMDC1 is specifically localized to the inner mitochondrial membrane, where it interacts with other proteins to maintain membrane integrity and function. **Clinical Significance:** Dysregulation of TIMMDC1 has been implicated in various diseases, including: 1. **Mitochondrial Disorders:** Mutations in the TMEM170A gene have been associated with mitochondrial disorders, such as encephalopathy, lactic acidosis, and stroke-like episodes (ELSD), which are characterized by impaired Complex I function and mitochondrial dysfunction. 2. **Neurodegenerative Diseases:** Alterations in TIMMDC1 expression have been linked to neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and Huntington's disease, which are characterized by impaired mitochondrial function and energy metabolism. 3. **Cancer:** TIMMDC1 is also involved in the regulation of cellular metabolism and energy homeostasis, making it a potential target for cancer therapy. In conclusion, TIMMDC1 is a critical component of the mitochondrial respiratory electron transport chain, playing a pivotal role in maintaining mitochondrial function and regulating cellular metabolism. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms underlying TIMMDC1 function and its clinical significance.

Genular Protein ID: 3578761365

Symbol: TIDC1_HUMAN

Name: Protein M5-14

UniProtKB Accession Codes:

Q9NPL8 D3DN81 Q6IAJ7 Q6UWU6 Q9NPR3 Q9NPS5 Q9P0Y6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 1 ExpressionAtlas 1 GO 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11092749

Title: Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene.

PubMed ID: 11092749

DOI: 10.3109/10425170009033252

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24191001

Title: Assembly factors for the membrane arm of human complex I.

PubMed ID: 24191001

DOI: 10.1073/pnas.1319247110

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33753518

Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

PubMed ID: 33753518

DOI: 10.1073/pnas.2100558118

PubMed ID: 28604674

Title: Genetic diagnosis of Mendelian disorders via RNA sequencing.

PubMed ID: 28604674

DOI: 10.1038/ncomms15824

Sequence Information:

  • Length: 285
  • Mass: 32178
  • Checksum: 5AA6474C3ABCCFA2
  • Sequence:
    • MEVPPPAPRS FLCRALCLFP RVFAAEAVTA DSEVLEERQK RLPYVPEPYY PESGWDRLRE 
LFGKDEQQRI SKDLANICKT AATAGIIGWV YGGIPAFIHA KQQYIEQSQA EIYHNRFDAV 
QSAHRAATRG FIRYGWRWGW RTAVFVTIFN TVNTSLNVYR NKDALSHFVI AGAVTGSLFR 
INVGLRGLVA GGIIGALLGT PVGGLLMAFQ KYSGETVQER KQKDRKALHE LKLEEWKGRL 
QVTEHLPEKI ESSLQEDEPE NDAKKIEALL NLPRNPSVID KQDKD

Genular Protein ID: 3848801958

Symbol: C9JU35_HUMAN

Name: N/A

UniProtKB Accession Codes:

C9JU35

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 GeneTree 1 HGNC 1 HOGENOM 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 151
  • Mass: 17459
  • Checksum: D560B482E2212AAA
  • Sequence:
    • MEVPPPAPRS FLCRALCLFP RVFAAEAVTA DSEVLEERQK RLPYVPEPYY PESGWDRLRE 
LFGKDTPVGG LLMAFQKYSG ETVQERKQKD RKALHELKLE EWKGRLQVTE HLPEKIESSL 
QEDEPENDAK KIEALLNLPR NPSVIDKQDK D

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.