Skip Header

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

Mitochondrial import inner membrane translocase subunit TIM50

Gene

TIMM50

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.1 Publication
Isoform 2: May participate in the release of snRNPs and SMN from the Cajal body.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processProtein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1268020 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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105197.10
HGNCiHGNC:23656 TIMM50
MIMi607381 gene
neXtProtiNX_Q3ZCQ8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini45 – 65Mitochondrial matrixSequence analysisAdd BLAST21
Transmembranei66 – 86HelicalSequence analysisAdd BLAST21
Topological domaini87 – 353Mitochondrial intermembraneSequence analysisAdd BLAST267

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

3-methylglutaconic aciduria 9 (MGCA9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.
See also OMIM:617698
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078568114R → W in MGCA9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1300848445Ensembl.1
Natural variantiVAR_078569149T → M in MGCA9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1244226820Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi92609
MalaCardsiTIMM50
MIMi617698 phenotype
OpenTargetsiENSG00000105197
PharmGKBiPA134902846

Polymorphism and mutation databases

BioMutaiTIMM50
DMDMi83305924

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 44MitochondrionSequence analysisAdd BLAST44
ChainiPRO_000004311545 – 353Mitochondrial import inner membrane translocase subunit TIM50Add BLAST309

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei45PhosphoserineCombined sources1
Modified residuei341PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ3ZCQ8
MaxQBiQ3ZCQ8
PaxDbiQ3ZCQ8
PeptideAtlasiQ3ZCQ8
PRIDEiQ3ZCQ8
ProteomicsDBi61909
61910 [Q3ZCQ8-2]
TopDownProteomicsiQ3ZCQ8-1 [Q3ZCQ8-1]
Q3ZCQ8-2 [Q3ZCQ8-2]

PTM databases

iPTMnetiQ3ZCQ8
PhosphoSitePlusiQ3ZCQ8
SwissPalmiQ3ZCQ8

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000105197 Expressed in 199 organ(s), highest expression level in testis
CleanExiHS_TIMM50
ExpressionAtlasiQ3ZCQ8 baseline and differential
GenevisibleiQ3ZCQ8 HS

Organism-specific databases

HPAiHPA048843
HPA056448

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 (PubMed:15044455). The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15 (PubMed:23263864). Isoform 2: Interacts with COIL and snRNPs (PubMed:16008839).3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124961, 104 interactors
CORUMiQ3ZCQ8
DIPiDIP-34058N
IntActiQ3ZCQ8, 56 interactors
MINTiQ3ZCQ8
STRINGi9606.ENSP00000318115

Structurei

3D structure databases

ProteinModelPortaliQ3ZCQ8
SMRiQ3ZCQ8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini143 – 286FCP1 homologyPROSITE-ProRule annotationAdd BLAST144

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.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2832 Eukaryota
COG5190 LUCA
GeneTreeiENSGT00550000075036
HOVERGENiHBG084157
InParanoidiQ3ZCQ8
KOiK17496
OMAiRMKLGFA
PhylomeDBiQ3ZCQ8
TreeFamiTF106198

Family and domain databases

Gene3Di3.40.50.1000, 1 hit
InterProiView protein in InterPro
IPR004274 FCP1_dom
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR027111 Tim50
PANTHERiPTHR12210:SF3 PTHR12210:SF3, 1 hit
PfamiView protein in Pfam
PF03031 NIF, 1 hit
SMARTiView protein in SMART
SM00577 CPDc, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
PROSITEiView protein in PROSITE
PS50969 FCP1, 1 hit

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. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MAASAAVFSR LRSGLRLGSR GLCTRLATPP RRAPDQAAEI GSRGSTKAQG
60 70 80 90 100
PQQQPGSEGP SYAKKVALWL AGLLGAGGTV SVVYIFGNNP VDENGAKIPD
110 120 130 140 150
EFDNDPILVQ QLRRTYKYFK DYRQMIIEPT SPCLLPDPLQ EPYYQPPYTL
160 170 180 190 200
VLELTGVLLH PEWSLATGWR FKKRPGIETL FQQLAPLYEI VIFTSETGMT
210 220 230 240 250
AFPLIDSVDP HGFISYRLFR DATRYMDGHH VKDISCLNRD PARVVVVDCK
260 270 280 290 300
KEAFRLQPYN GVALRPWDGN SDDRVLLDLS AFLKTIALNG VEDVRTVLEH
310 320 330 340 350
YALEDDPLAA FKQRQSRLEQ EEQQRLAELS KSNKQNLFLG SLTSRLWPRS

KQP
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

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R047M0R047_HUMAN
Mitochondrial import inner membrane...
TIMM50
227Annotation score:
M0R1Y4M0R1Y4_HUMAN
Mitochondrial import inner membrane...
TIMM50
256Annotation score:
M0R003M0R003_HUMAN
Mitochondrial import inner membrane...
TIMM50
257Annotation score:
M0R2Q2M0R2Q2_HUMAN
Mitochondrial import inner membrane...
TIMM50
200Annotation score:
M0R2Z3M0R2Z3_HUMAN
Mitochondrial import inner membrane...
TIMM50
116Annotation score:
M0R303M0R303_HUMAN
Mitochondrial import inner membrane...
TIMM50
117Annotation score:
M0QXC3M0QXC3_HUMAN
Mitochondrial import inner membrane...
TIMM50
111Annotation score:
M0R2D2M0R2D2_HUMAN
Mitochondrial import inner membrane...
TIMM50
141Annotation score:
M0R2F8M0R2F8_HUMAN
Mitochondrial import inner membrane...
TIMM50
157Annotation score:
M0R0C3M0R0C3_HUMAN
Mitochondrial import inner membrane...
TIMM50
104Annotation score:

Sequence cautioni

The sequence AAG35534 differs from that shown. Chimera.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078568114R → W in MGCA9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1300848445Ensembl.1
Natural variantiVAR_078569149T → M in MGCA9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1244226820Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0476821 – 11MAASAAVFSRL → MVPRFLMSSTM in isoform 3. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_0163891M → MASALSLGNKCDPFLRCVLC RGGGALQGPRGRGPDDFESQ LSPPGSARRLVRSKRACGNP PDAFGLSRASVHPPLPRVSI GCSSGPGRAKRERVGGAAWR QRKM in isoform 2. Curated1
Alternative sequenceiVSP_04768312 – 124Missing in isoform 3. 2 PublicationsAdd BLAST113

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001001563.3 [Q3ZCQ8-2]
NP_001316488.1, NM_001329559.1 [Q3ZCQ8-3]
UniGeneiHs.590956
Hs.597106

Genome annotation databases

EnsembliENST00000314349; ENSP00000318115; ENSG00000105197 [Q3ZCQ8-2]
ENST00000544017; ENSP00000445806; ENSG00000105197 [Q3ZCQ8-2]
ENST00000607714; ENSP00000475531; ENSG00000105197 [Q3ZCQ8-1]
GeneIDi92609
KEGGihsa:92609
UCSCiuc002olu.1 human [Q3ZCQ8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001001563.3 [Q3ZCQ8-2]
NP_001316488.1, NM_001329559.1 [Q3ZCQ8-3]
UniGeneiHs.590956
Hs.597106

3D structure databases

ProteinModelPortaliQ3ZCQ8
SMRiQ3ZCQ8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124961, 104 interactors
CORUMiQ3ZCQ8
DIPiDIP-34058N
IntActiQ3ZCQ8, 56 interactors
MINTiQ3ZCQ8
STRINGi9606.ENSP00000318115

PTM databases

iPTMnetiQ3ZCQ8
PhosphoSitePlusiQ3ZCQ8
SwissPalmiQ3ZCQ8

Polymorphism and mutation databases

BioMutaiTIMM50
DMDMi83305924

Proteomic databases

EPDiQ3ZCQ8
MaxQBiQ3ZCQ8
PaxDbiQ3ZCQ8
PeptideAtlasiQ3ZCQ8
PRIDEiQ3ZCQ8
ProteomicsDBi61909
61910 [Q3ZCQ8-2]
TopDownProteomicsiQ3ZCQ8-1 [Q3ZCQ8-1]
Q3ZCQ8-2 [Q3ZCQ8-2]

Protocols and materials databases

DNASUi92609
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314349; ENSP00000318115; ENSG00000105197 [Q3ZCQ8-2]
ENST00000544017; ENSP00000445806; ENSG00000105197 [Q3ZCQ8-2]
ENST00000607714; ENSP00000475531; ENSG00000105197 [Q3ZCQ8-1]
GeneIDi92609
KEGGihsa:92609
UCSCiuc002olu.1 human [Q3ZCQ8-1]

Organism-specific databases

CTDi92609
DisGeNETi92609
EuPathDBiHostDB:ENSG00000105197.10
GeneCardsiTIMM50
H-InvDBiHIX0040029
HGNCiHGNC:23656 TIMM50
HPAiHPA048843
HPA056448
MalaCardsiTIMM50
MIMi607381 gene
617698 phenotype
neXtProtiNX_Q3ZCQ8
OpenTargetsiENSG00000105197
PharmGKBiPA134902846
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2832 Eukaryota
COG5190 LUCA
GeneTreeiENSGT00550000075036
HOVERGENiHBG084157
InParanoidiQ3ZCQ8
KOiK17496
OMAiRMKLGFA
PhylomeDBiQ3ZCQ8
TreeFamiTF106198

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Miscellaneous databases

ChiTaRSiTIMM50 human
GeneWikiiTIMM50
GenomeRNAii92609
PROiPR:Q3ZCQ8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105197 Expressed in 199 organ(s), highest expression level in testis
CleanExiHS_TIMM50
ExpressionAtlasiQ3ZCQ8 baseline and differential
GenevisibleiQ3ZCQ8 HS

Family and domain databases

Gene3Di3.40.50.1000, 1 hit
InterProiView protein in InterPro
IPR004274 FCP1_dom
IPR036412 HAD-like_sf
IPR023214 HAD_sf
IPR027111 Tim50
PANTHERiPTHR12210:SF3 PTHR12210:SF3, 1 hit
PfamiView protein in Pfam
PF03031 NIF, 1 hit
SMARTiView protein in SMART
SM00577 CPDc, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
PROSITEiView protein in PROSITE
PS50969 FCP1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTIM50_HUMAN
AccessioniPrimary (citable) accession number: Q3ZCQ8
Secondary accession number(s): Q330K1
, Q6QA00, Q96FJ5, Q96GY2, Q9H370
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: October 10, 2018
This is version 135 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again