Details for: TIMM8A

Gene ID: 1678

Symbol: TIMM8A

Ensembl ID: ENSG00000126953

Description: translocase of inner mitochondrial membrane 8A

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.91
    Marker Score: 1706
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169084
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.32
    Marker Score: 893
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.25
    Marker Score: 1308
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.04
    Marker Score: 3867
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.04
    Marker Score: 353
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71773
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47998
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.98
    Marker Score: 489
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.97
    Marker Score: 3823
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.94
    Marker Score: 1176.5
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5250
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2720
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5262
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.87
    Marker Score: 2113
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.86
    Marker Score: 578
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.79
    Marker Score: 590
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.77
    Marker Score: 1632
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.75
    Marker Score: 9942
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.75
    Marker Score: 992
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 294
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 556.5
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.72
    Marker Score: 1718
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 648
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.71
    Marker Score: 1017
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2877
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.68
    Marker Score: 730
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.68
    Marker Score: 432
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.67
    Marker Score: 656
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.65
    Marker Score: 1131
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.65
    Marker Score: 22423
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.61
    Marker Score: 5241
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.59
    Marker Score: 629
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.59
    Marker Score: 596
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.58
    Marker Score: 289
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.58
    Marker Score: 458
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.57
    Marker Score: 163
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.56
    Marker Score: 1512
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.55
    Marker Score: 684
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.55
    Marker Score: 160
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.54
    Marker Score: 2223
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.54
    Marker Score: 568
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.53
    Marker Score: 1106
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.53
    Marker Score: 878
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.52
    Marker Score: 128
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.52
    Marker Score: 353
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.51
    Marker Score: 251
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.51
    Marker Score: 134
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.5
    Marker Score: 337
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.49
    Marker Score: 308
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.49
    Marker Score: 201.5
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.48
    Marker Score: 405
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.48
    Marker Score: 767
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.48
    Marker Score: 519
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.47
    Marker Score: 510.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.47
    Marker Score: 7324
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.46
    Marker Score: 264
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.46
    Marker Score: 293
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.46
    Marker Score: 753.5
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.45
    Marker Score: 643
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.45
    Marker Score: 663
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.45
    Marker Score: 223
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.45
    Marker Score: 106
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.44
    Marker Score: 3435
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.44
    Marker Score: 1303
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.44
    Marker Score: 455
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.44
    Marker Score: 409.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.43
    Marker Score: 2891
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.43
    Marker Score: 1341.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.42
    Marker Score: 278
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.42
    Marker Score: 447
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.41
    Marker Score: 227
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.41
    Marker Score: 13938
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.41
    Marker Score: 435
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.4
    Marker Score: 484
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.4
    Marker Score: 211
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.39
    Marker Score: 118
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.39
    Marker Score: 1501
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.39
    Marker Score: 91
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.38
    Marker Score: 383
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.38
    Marker Score: 276
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.37
    Marker Score: 577
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.37
    Marker Score: 634
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.37
    Marker Score: 131
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.37
    Marker Score: 170
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.37
    Marker Score: 245
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.37
    Marker Score: 153
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.36
    Marker Score: 175
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.36
    Marker Score: 1562
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.36
    Marker Score: 135

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * TIMM8A is a transmembrane protein with a molecular weight of approximately 80 kDa. * It is a member of the TIMM family of proteins, which are responsible for the translocation of proteins between the mitochondrial matrix and the intermembrane space. * TIMM8A is found in various tissues, including extravillous trophoblast, mural cell, proerythroblast, erythroid progenitor cell, cortical thymic epithelial cell, stem cell of epidermis, cerebral cortex GABAergic interneuron, forebrain radial glial cell, and osteoclast. * It is known to be involved in the internalization of various proteins, including mitochondrial proteins, lysosomal proteins, and secreted proteins. **Pathways and functions:** * TIMM8A is involved in the internalization of mitochondrial proteins from the mitochondrial matrix into the intermembrane space. * It does this by interacting with the mitochondrial inner membrane protein Tim17, which is responsible for the recognition of specific mitochondrial proteins. * Once bound, TIMM8A undergoes a conformational change that exposes a hydrophobic transmembrane domain, which facilitates the translocation of the mitochondrial protein into the intermembrane space. * The protein is then targeted to the lysosome for degradation. **Clinical significance:** * Mutations in the TIMM8A gene have been linked to several human diseases, including mitochondrial disorders and neurodegenerative diseases. * In particular, mutations in TIMM8A have been implicated in the pathogenesis of mitochondrial myopathy, a rare genetic disorder characterized by progressive muscle weakness and mitochondrial dysfunction. * Therefore, TIMM8A is a promising target for the development of novel therapeutic strategies for mitochondrial disorders.

Genular Protein ID: 1638675486

Symbol: TIM8A_HUMAN

Name: Mitochondrial import inner membrane translocase subunit Tim8 A

UniProtKB Accession Codes:

O60220 B2R5A6 Q6IRW6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 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 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

A0A2R8YDA8

Database IDs:

Antibodypedia 1 Bgee 1 ChiTaRS 1 DNASU 1 EMBL 1 EPD 1 Ensembl 3 GeneTree 1 HGNC 1 InterPro 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 Pfam 2 Proteomes 2 RefSeq 1 VEuPathDB 1

Citations:

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. For the full schema, download it here.