Reviewed,
UniProtKB/Swiss-Prot Q3ZCQ8 (TIM50_HUMAN)
Last modified
July 7, 2009.
Version 43.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Mitochondrial import inner membrane translocase subunit TIM50 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 353 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body. Ref.1 |
| Subunit structure | Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. Interacts directly with TIMM23. Isoform 2 interacts with COIL and snRNPs. Ref.1 Ref.6 |
| Subcellular location | Mitochondrion inner membrane; Single-pass membrane protein. Ref.1 Ref.6 Isoform 2: Nucleus speckle. Note: Nuclear and enriched in speckles with snRNPs. Ref.1 Ref.6 |
| Tissue specificity | Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level). Ref.1 Ref.6 |
| Domain | The FCP1 homology domain does not contain the canonical D-x-D-x-[TV] active site, suggesting that it probably does not display phosphatase activity in vivo. |
| Sequence similarities | Belongs to the TIM50 family. Contains 1 FCP1 homology domain. |
| Sequence caution | The sequence AAG35534.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimera. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| AKTIP | Q9H8T0 | 1 | EBI-355175,EBI-711399 | |
| ARAF | P10398 | 2 | EBI-355175,EBI-365961 | |
| MAGED1 | Q9Y5V3 | 1 | EBI-355175,EBI-716006 | |
| PELO | Q9BRX2 | 1 | EBI-355175,EBI-1043580 | |
| PHB2 | Q99623 | 1 | EBI-355175,EBI-358348 | |
| RAF1 | P04049 | 3 | EBI-355175,EBI-365996 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q3ZCQ8-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q3ZCQ8-2) Also known as: Tim50a; The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MASALSLGNK...GGAAWRQRKM | ||||||
| Note: Nuclear and enriched in speckles with snRNPs. Ref.1 Ref.6 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 44 | 44 | Mitochondrion Potential | ||||||
| Chain | 45 – 353 | 309 | Mitochondrial import inner membrane translocase subunit TIM50 | PRO_0000043115 | |||||
Regions | |||||||||
| Topological domain | 45 – 65 | 21 | Mitochondrial matrix Potential | ||||||
| Transmembrane | 66 – 86 | 21 | Potential | ||||||
| Topological domain | 87 – 353 | 267 | Mitochondrial intermembrane Potential | ||||||
| Domain | 143 – 286 | 144 | FCP1 homology | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 | 1 | M → MASALSLGNKCDPFLRCVLC RGGGALQGPRGRGPDDFESQ LSPPGSARRLVRSKRACGNP PDAFGLSRASVHPPLPRVSI GCSSGPGRAKRERVGGAAWR QRKM in isoform 2. | VSP_016389 | |||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death." Guo Y., Cheong N., Zhang Z., De Rose R., Deng Y., Farber S.A., Fernandes-Alnemri T., Alnemri E.S. J. Biol. Chem. 279:24813-24825(2004) [PubMed: 15044455] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH TIMM23. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain, Eye and Pancreas. |
| [3] | "Functional prediction of the coding sequences of 75 new genes deduced by analysis of cDNA clones from human fetal liver." Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y., Xu W., Gao F., Liu M., He F. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 68-353. Tissue: Fetal liver. |
| [4] | Bienvenut W.V. Submitted (JUN-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 98-113; 275-284; 285-295 AND 335-345, MASS SPECTROMETRY. Tissue: B-cell lymphoma. |
| [5] | Lubec G., Afjehi-Sadat L. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 98-113, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell. |
| [6] | "Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis." Xu H., Somers Z.B., Robinson M.L. II, Hebert M.D. BMC Cell Biol. 6:29-29(2005) [PubMed: 16008839] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 2), RNA-BINDING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH COIL. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AY551341 mRNA. Translation: AAT01208.1. BC009072 mRNA. Translation: AAH09072.1. BC010736 mRNA. Translation: AAH10736.1. BC050082 mRNA. Translation: AAH50082.1. AF130109 mRNA. Translation: AAG35534.1. Sequence problems. | |
| IPI | IPI00418497. IPI00656071. |
| RefSeq | NP_001001563.1. |
| UniGene | Hs.590956 Hs.597106 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q3ZCQ8. 30 interactions. |
PTM databases | |
| PhosphoSite | Q3ZCQ8. |
Proteomic databases | |
| PRIDE | Q3ZCQ8. |
Genome annotation databases | |
| Ensembl | ENSG00000105197. Homo sapiens. [Contig view] |
| GeneID | 92609. |
| KEGG | hsa:92609. |
| UCSC | uc002olu.1. human. |
Organism-specific databases | |
| GeneCards | GC19P044663. |
| H-InvDB | HIX0040029. |
| HGNC | HGNC:23656. TIMM50. |
| MIM | 607381. gene. |
| PharmGKB | PA134902846. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q3ZCQ8. |
| OMA | Q3ZCQ8. PVDENGA. |
Gene expression databases | |
| ArrayExpress | Q3ZCQ8. |
| Bgee | Q3ZCQ8. |
| CleanEx | HS_TIMM50. |
| GermOnline | ENSG00000105197. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004274. NIF. [Graphical view] |
| Pfam | PF03031. NIF. 1 hit. [Graphical view] |
| SMART | SM00577. CPDc. 1 hit. [Graphical view] |
| PROSITE | PS50969. FCP1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 77819. |
| SOURCE | Search... |
Entry information
| Entry name | TIM50_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q3ZCQ8 Secondary accession number(s): Q6QA00 Q9H370 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


