Details for: TIMM8A

Gene ID: 1678

Symbol: TIMM8A

Ensembl ID: ENSG00000126953

Description: translocase of inner mitochondrial membrane 8A

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: 50.3391
    Cell Significance Index: -7.8300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 30.4759
    Cell Significance Index: -7.7300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.3864
    Cell Significance Index: -10.3400
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 3.8130
    Cell Significance Index: 11.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.4754
    Cell Significance Index: -9.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7800
    Cell Significance Index: -10.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.3530
    Cell Significance Index: 133.8400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3141
    Cell Significance Index: 78.8900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0474
    Cell Significance Index: 113.9300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8430
    Cell Significance Index: 761.2000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.7950
    Cell Significance Index: -1.7400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7449
    Cell Significance Index: 121.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7227
    Cell Significance Index: 19.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5113
    Cell Significance Index: 35.3600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5024
    Cell Significance Index: 26.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4421
    Cell Significance Index: 20.0400
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.4172
    Cell Significance Index: 3.4500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.3888
    Cell Significance Index: 10.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3808
    Cell Significance Index: 207.9900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3699
    Cell Significance Index: 26.1600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3276
    Cell Significance Index: 4.4700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2964
    Cell Significance Index: 131.0400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.2824
    Cell Significance Index: 3.0700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2754
    Cell Significance Index: 7.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2363
    Cell Significance Index: 46.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2231
    Cell Significance Index: 26.3100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2186
    Cell Significance Index: 28.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2091
    Cell Significance Index: 25.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2063
    Cell Significance Index: 28.3300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2021
    Cell Significance Index: 12.7400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1795
    Cell Significance Index: 13.3800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1758
    Cell Significance Index: 5.6300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1694
    Cell Significance Index: 32.2400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1653
    Cell Significance Index: 7.7700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1634
    Cell Significance Index: 3.5400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1575
    Cell Significance Index: 1.6300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1482
    Cell Significance Index: 9.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1273
    Cell Significance Index: 22.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1036
    Cell Significance Index: 5.4400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0991
    Cell Significance Index: 2.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0987
    Cell Significance Index: 4.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0896
    Cell Significance Index: 2.2400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0871
    Cell Significance Index: 0.9900
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0834
    Cell Significance Index: 0.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0767
    Cell Significance Index: 8.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0671
    Cell Significance Index: 13.4600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0647
    Cell Significance Index: 2.2500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0542
    Cell Significance Index: 1.1400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0536
    Cell Significance Index: 1.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0498
    Cell Significance Index: 1.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0403
    Cell Significance Index: 5.1600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.0313
    Cell Significance Index: 0.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0200
    Cell Significance Index: 0.5600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0180
    Cell Significance Index: 1.3900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0169
    Cell Significance Index: 0.3600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0152
    Cell Significance Index: 0.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0112
    Cell Significance Index: 4.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0048
    Cell Significance Index: 0.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0011
    Cell Significance Index: 0.8500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0004
    Cell Significance Index: 0.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0022
    Cell Significance Index: -4.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0057
    Cell Significance Index: -10.4900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0064
    Cell Significance Index: -9.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0082
    Cell Significance Index: -11.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0117
    Cell Significance Index: -8.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0131
    Cell Significance Index: -8.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0144
    Cell Significance Index: -1.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0171
    Cell Significance Index: -9.6500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0182
    Cell Significance Index: -8.2600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0184
    Cell Significance Index: -0.4700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0197
    Cell Significance Index: -3.3700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0206
    Cell Significance Index: -12.8800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0285
    Cell Significance Index: -0.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0388
    Cell Significance Index: -11.1700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0465
    Cell Significance Index: -0.4000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0476
    Cell Significance Index: -6.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0517
    Cell Significance Index: -6.0200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0517
    Cell Significance Index: -0.8700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0554
    Cell Significance Index: -11.6700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0713
    Cell Significance Index: -4.3700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0719
    Cell Significance Index: -1.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0802
    Cell Significance Index: -4.9300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0991
    Cell Significance Index: -7.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1031
    Cell Significance Index: -10.7300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1099
    Cell Significance Index: -7.3900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1130
    Cell Significance Index: -6.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1160
    Cell Significance Index: -2.6800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1260
    Cell Significance Index: -1.8600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1269
    Cell Significance Index: -0.8600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1398
    Cell Significance Index: -1.3300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1464
    Cell Significance Index: -2.4500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1891
    Cell Significance Index: -8.3700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1954
    Cell Significance Index: -2.0400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1969
    Cell Significance Index: -5.8000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2085
    Cell Significance Index: -1.9200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2250
    Cell Significance Index: -8.5200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2275
    Cell Significance Index: -8.3500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.2423
    Cell Significance Index: -3.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2458
    Cell Significance Index: -8.6100
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.2471
    Cell Significance Index: -2.1000

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:** 1. **Mitochondrial localization:** TIMM8A is a mitochondrial inner membrane protein, suggesting its role in the regulation of mitochondrial function and dynamics. 2. **Import inner membrane translocase subunit:** As a subunit of the import inner membrane translocase, TIMM8A is involved in the transport of proteins across the inner mitochondrial membrane. 3. **Significant expression in various cell types:** TIMM8A is expressed in a wide range of cell types, including extravillous trophoblasts, mural cells, and stem cells of the epidermis, highlighting its importance in development and tissue homeostasis. 4. **Implications in disease:** Dysregulation of TIMM8A has been linked to several diseases, including neurological disorders, hematological malignancies, and osteoporosis. **Pathways and Functions:** 1. **Mitochondrial protein import:** TIMM8A plays a critical role in the transport of essential proteins across the inner mitochondrial membrane, ensuring the proper functioning of mitochondria. 2. **Mitochondrial dynamics:** TIMM8A is involved in the regulation of mitochondrial dynamics, including fusion, fission, and mitophagy, which are essential for maintaining mitochondrial homeostasis. 3. **Protein binding:** TIMM8A interacts with various proteins, including other mitochondrial proteins and nuclear-encoded proteins, to regulate mitochondrial function and biogenesis. 4. **Cellular signaling:** TIMM8A is involved in cellular signaling pathways, including those regulating cell growth, differentiation, and survival. **Clinical Significance:** 1. **Neurological disorders:** Dysregulation of TIMM8A has been implicated in neurological disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. 2. **Hematological malignancies:** TIMM8A is expressed in hematopoietic stem cells and is involved in the regulation of cell proliferation and differentiation, making it a potential target for the treatment of hematological malignancies. 3. **Osteoporosis:** TIMM8A has been linked to osteoporosis, a disease characterized by the loss of bone mass and density, highlighting the importance of this gene in bone health. 4. **Cancer:** TIMM8A is overexpressed in various types of cancer, including breast, lung, and colon cancer, suggesting its role in tumorigenesis and cancer progression. In conclusion, TIMM8A is a critical component of mitochondrial biology, playing a crucial role in the regulation of mitochondrial function, dynamics, and biogenesis. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining overall cellular health and disease prevention. Further research is needed to fully elucidate the functions of TIMM8A and its potential as a therapeutic target for the treatment of various diseases.

Genular Protein ID: 1638675486

Symbol: TIM8A_HUMAN

Name: Mitochondrial import inner membrane translocase subunit Tim8 A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8841189

Title: A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

PubMed ID: 8841189

DOI: 10.1038/ng1096-177

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 10051608

Title: Human deafness dystonia syndrome is a mitochondrial disease.

PubMed ID: 10051608

DOI: 10.1073/pnas.96.5.2141

PubMed ID: 10051550

Title: Mitochondria and dystonia: the movement disorder connection?

PubMed ID: 10051550

DOI: 10.1073/pnas.96.5.1817

PubMed ID: 11489896

Title: Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria.

PubMed ID: 11489896

DOI: 10.1074/jbc.m105313200

PubMed ID: 15254020

Title: The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

PubMed ID: 15254020

DOI: 10.1093/hmg/ddh217

PubMed ID: 11803487

Title: Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

PubMed ID: 11803487

DOI: 10.1076/opge.22.4.207.2220

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 10878669

Title: A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

PubMed ID: 10878669

DOI: 10.1038/sj.ejhg.5200483

PubMed ID: 11875042

Title: Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.

PubMed ID: 11875042

DOI: 10.1093/hmg/11.5.477

PubMed ID: 11956200

Title: The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.

PubMed ID: 11956200

DOI: 10.1074/jbc.m201154200

Sequence Information:

  • Length: 97
  • Mass: 10998
  • Checksum: CB72822290F20AB0
  • Sequence:
  • MDSSSSSSAA GLGAVDPQLQ HFIEVETQKQ RFQQLVHQMT ELCWEKCMDK PGPKLDSRAE 
    ACFVNCVERF IDTSQFILNR LEQTQKSKPV FSESLSD

Genular Protein ID: 3783318397

Symbol: A0A2R8YDA8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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

Sequence Information:

  • Length: 48
  • Mass: 5316
  • Checksum: 242BC60C9FF2B426
  • Sequence:
  • MDSSSSSSAA GLGAVDPQLQ HFIEVETQKQ RFQQLVHQMT ELCWVPVA

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.