SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q3ZCQ8

- TIM50_HUMAN

UniProt

Q3ZCQ8 - TIM50_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Mitochondrial import inner membrane translocase subunit TIM50
Gene
TIMM50, TIM50, PRO1512
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  1. RNA binding Source: UniProtKB-KW
  2. interleukin-2 receptor binding Source: MGI
  3. phosphoprotein phosphatase activity Source: MGI
  4. protein binding Source: UniProtKB
  5. protein serine/threonine phosphatase activity Source: UniProtKB
  6. protein tyrosine phosphatase activity Source: UniProtKB
  7. ribonucleoprotein complex binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. mitochondrial membrane organization Source: UniProtKB
  3. peptidyl-tyrosine dephosphorylation Source: GOC
  4. protein dephosphorylation Source: UniProtKB
  5. protein targeting to mitochondrion Source: Reactome
  6. release of cytochrome c from mitochondria Source: MGI
Complete GO annotation...

Keywords - Biological processi

Protein transport, Translocation, Transport

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial import inner membrane translocase subunit TIM50
Gene namesi
Name:TIMM50
Synonyms:TIM50
ORF Names:PRO1512
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:23656. TIMM50.

Subcellular locationi

Mitochondrion inner membrane; Single-pass membrane protein 2 Publications
Isoform 2 : Nucleus speckle
Note: Nuclear and enriched in speckles with snRNPs.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini45 – 6521Mitochondrial matrix Reviewed prediction
Add
BLAST
Transmembranei66 – 8621Helical; Reviewed prediction
Add
BLAST
Topological domaini87 – 353267Mitochondrial intermembrane Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB
  3. mitochondrial inner membrane presequence translocase complex Source: UniProtKB
  4. mitochondrion Source: HPA
  5. nuclear speck Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134902846.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4444Mitochondrion Reviewed prediction
Add
BLAST
Chaini45 – 353309Mitochondrial import inner membrane translocase subunit TIM50
PRO_0000043115Add
BLAST

Proteomic databases

MaxQBiQ3ZCQ8.
PaxDbiQ3ZCQ8.
PRIDEiQ3ZCQ8.

PTM databases

PhosphoSiteiQ3ZCQ8.

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level).2 Publications

Gene expression databases

ArrayExpressiQ3ZCQ8.
BgeeiQ3ZCQ8.
CleanExiHS_TIMM50.
GenevestigatoriQ3ZCQ8.

Organism-specific databases

HPAiHPA048843.

Interactioni

Subunit structurei

Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50; within this complex, directly interacts with TIMM23. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. Isoform 2 interacts with COIL and snRNPs.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ARAFP103983EBI-355175,EBI-365961
RAF1P040493EBI-355175,EBI-365996

Protein-protein interaction databases

BioGridi124961. 44 interactions.
IntActiQ3ZCQ8. 24 interactions.
MINTiMINT-1148586.
STRINGi9606.ENSP00000318115.

Structurei

3D structure databases

ProteinModelPortaliQ3ZCQ8.
SMRiQ3ZCQ8. Positions 123-314.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini143 – 286144FCP1 homology
Add
BLAST

Domaini

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 similaritiesi

Belongs to the TIM50 family.

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5190.
HOVERGENiHBG084157.
InParanoidiQ3ZCQ8.
KOiK17496.
OMAiMEGHHVK.
OrthoDBiEOG773XH7.
PhylomeDBiQ3ZCQ8.
TreeFamiTF106198.

Family and domain databases

Gene3Di3.40.50.1000. 1 hit.
InterProiIPR023214. HAD-like_dom.
IPR004274. NIF.
IPR027111. Tim50.
[Graphical view]
PANTHERiPTHR12210:SF3. PTHR12210:SF3. 1 hit.
PfamiPF03031. NIF. 1 hit.
[Graphical view]
SMARTiSM00577. CPDc. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 1 hit.
PROSITEiPS50969. FCP1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q3ZCQ8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAASAAVFSR LRSGLRLGSR GLCTRLATPP RRAPDQAAEI GSRGSTKAQG    50
PQQQPGSEGP SYAKKVALWL AGLLGAGGTV SVVYIFGNNP VDENGAKIPD 100
EFDNDPILVQ QLRRTYKYFK DYRQMIIEPT SPCLLPDPLQ EPYYQPPYTL 150
VLELTGVLLH PEWSLATGWR FKKRPGIETL FQQLAPLYEI VIFTSETGMT 200
AFPLIDSVDP HGFISYRLFR DATRYMDGHH VKDISCLNRD PARVVVVDCK 250
KEAFRLQPYN GVALRPWDGN SDDRVLLDLS AFLKTIALNG VEDVRTVLEH 300
YALEDDPLAA FKQRQSRLEQ EEQQRLAELS KSNKQNLFLG SLTSRLWPRS 350
KQP 353
Length:353
Mass (Da):39,646
Last modified:December 6, 2005 - v2
Checksum:i524EB9989BBF6988
GO
Isoform 2 (identifier: Q3ZCQ8-2) [UniParc]FASTAAdd to Basket

Also known as: Tim50a

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MASALSLGNK...GGAAWRQRKM

Show »
Length:456
Mass (Da):50,465
Checksum:i870E81E2A0289BC4
GO
Isoform 3 (identifier: Q3ZCQ8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MAASAAVFSRL → MVPRFLMSSTM
     12-124: Missing.

Show »
Length:240
Mass (Da):27,579
Checksum:i4DD423B7CF6FC444
GO

Sequence cautioni

The sequence AAG35534.1 differs from that shown. Reason: Chimera.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111MAASAAVFSRL → MVPRFLMSSTM in isoform 3.
VSP_047682Add
BLAST
Alternative sequencei1 – 11M → MASALSLGNKCDPFLRCVLC RGGGALQGPRGRGPDDFESQ LSPPGSARRLVRSKRACGNP PDAFGLSRASVHPPLPRVSI GCSSGPGRAKRERVGGAAWR QRKM in isoform 2.
VSP_016389
Alternative sequencei12 – 124113Missing in isoform 3.
VSP_047683Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY551341 mRNA. Translation: AAT01208.1.
AY444561 mRNA. Translation: AAS68537.1.
AC011500 Genomic DNA. No translation available.
BC009072 mRNA. Translation: AAH09072.1.
BC010736 mRNA. Translation: AAH10736.1.
BC050082 mRNA. Translation: AAH50082.1.
BC121146 mRNA. Translation: AAI21147.1.
AF130109 mRNA. Translation: AAG35534.1. Sequence problems.
CCDSiCCDS33023.1. [Q3ZCQ8-2]
RefSeqiNP_001001563.1. NM_001001563.1. [Q3ZCQ8-2]
UniGeneiHs.590956.
Hs.597106.

Genome annotation databases

EnsembliENST00000314349; ENSP00000318115; ENSG00000105197. [Q3ZCQ8-2]
ENST00000544017; ENSP00000445806; ENSG00000105197. [Q3ZCQ8-3]
ENST00000607714; ENSP00000475531; ENSG00000105197. [Q3ZCQ8-1]
GeneIDi92609.
KEGGihsa:92609.
UCSCiuc002olt.2. human.
uc002olu.1. human. [Q3ZCQ8-2]

Polymorphism databases

DMDMi83305924.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY551341 mRNA. Translation: AAT01208.1 .
AY444561 mRNA. Translation: AAS68537.1 .
AC011500 Genomic DNA. No translation available.
BC009072 mRNA. Translation: AAH09072.1 .
BC010736 mRNA. Translation: AAH10736.1 .
BC050082 mRNA. Translation: AAH50082.1 .
BC121146 mRNA. Translation: AAI21147.1 .
AF130109 mRNA. Translation: AAG35534.1 . Sequence problems.
CCDSi CCDS33023.1. [Q3ZCQ8-2 ]
RefSeqi NP_001001563.1. NM_001001563.1. [Q3ZCQ8-2 ]
UniGenei Hs.590956.
Hs.597106.

3D structure databases

ProteinModelPortali Q3ZCQ8.
SMRi Q3ZCQ8. Positions 123-314.
ModBasei Search...

Protein-protein interaction databases

BioGridi 124961. 44 interactions.
IntActi Q3ZCQ8. 24 interactions.
MINTi MINT-1148586.
STRINGi 9606.ENSP00000318115.

PTM databases

PhosphoSitei Q3ZCQ8.

Polymorphism databases

DMDMi 83305924.

Proteomic databases

MaxQBi Q3ZCQ8.
PaxDbi Q3ZCQ8.
PRIDEi Q3ZCQ8.

Protocols and materials databases

DNASUi 92609.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314349 ; ENSP00000318115 ; ENSG00000105197 . [Q3ZCQ8-2 ]
ENST00000544017 ; ENSP00000445806 ; ENSG00000105197 . [Q3ZCQ8-3 ]
ENST00000607714 ; ENSP00000475531 ; ENSG00000105197 . [Q3ZCQ8-1 ]
GeneIDi 92609.
KEGGi hsa:92609.
UCSCi uc002olt.2. human.
uc002olu.1. human. [Q3ZCQ8-2 ]

Organism-specific databases

CTDi 92609.
GeneCardsi GC19P039971.
H-InvDB HIX0040029.
HGNCi HGNC:23656. TIMM50.
HPAi HPA048843.
MIMi 607381. gene.
neXtProti NX_Q3ZCQ8.
PharmGKBi PA134902846.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5190.
HOVERGENi HBG084157.
InParanoidi Q3ZCQ8.
KOi K17496.
OMAi MEGHHVK.
OrthoDBi EOG773XH7.
PhylomeDBi Q3ZCQ8.
TreeFami TF106198.

Enzyme and pathway databases

Reactomei REACT_118595. Mitochondrial protein import.

Miscellaneous databases

GeneWikii TIMM50.
GenomeRNAii 92609.
NextBioi 77819.
PROi Q3ZCQ8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q3ZCQ8.
Bgeei Q3ZCQ8.
CleanExi HS_TIMM50.
Genevestigatori Q3ZCQ8.

Family and domain databases

Gene3Di 3.40.50.1000. 1 hit.
InterProi IPR023214. HAD-like_dom.
IPR004274. NIF.
IPR027111. Tim50.
[Graphical view ]
PANTHERi PTHR12210:SF3. PTHR12210:SF3. 1 hit.
Pfami PF03031. NIF. 1 hit.
[Graphical view ]
SMARTi SM00577. CPDc. 1 hit.
[Graphical view ]
SUPFAMi SSF56784. SSF56784. 1 hit.
PROSITEi PS50969. FCP1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH TIMM23.
  2. "Cloning of a novel splice variant of TIM50L."
    Zheng H., Xie Y., Mao Y.
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain, Eye and Pancreas.
  5. "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.
  6. Bienvenut W.V.
    Submitted (JUN-2005) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 98-113; 275-284; 285-295 AND 335-345, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: B-cell lymphoma.
  7. Lubec G., Afjehi-Sadat L.
    Submitted (MAR-2007) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 98-113, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain and Cajal-Retzius cell.
  8. "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] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORM 2), RNA-BINDING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH COIL.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria."
    Schusdziarra C., Blamowska M., Azem A., Hell K.
    Hum. Mol. Genet. 22:1348-1357(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DNAJC15.

Entry informationi

Entry nameiTIM50_HUMAN
AccessioniPrimary (citable) accession number: Q3ZCQ8
Secondary accession number(s): Q330K1
, Q6QA00, Q96FJ5, Q96GY2, Q9H370
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: September 3, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi