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Protein

Mitochondrial import inner membrane translocase subunit Tim8 A

Gene

TIMM8A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.2 Publications

GO - Molecular functioni

GO - Biological processi

  • chaperone-mediated protein transport Source: BHF-UCL
  • nervous system development Source: ProtInc

Keywordsi

Molecular functionChaperone
Biological processProtein transport, Translocation, Transport
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial import inner membrane translocase subunit Tim8 A
Alternative name(s):
Deafness dystonia protein 1
X-linked deafness dystonia protein
Gene namesi
Name:TIMM8A
Synonyms:DDP, DDP1, TIM8A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000126953.5
HGNCiHGNC:11817 TIMM8A
MIMi300356 gene
neXtProtiNX_O60220

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mohr-Tranebjaerg syndrome (MTS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness.
See also OMIM:304700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01023766C → W in MTS; disrupts the assembly of the heterohexamer with TIMM13. 3 PublicationsCorresponds to variant dbSNP:rs80356560EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Dystonia

Organism-specific databases

DisGeNETi1678
GeneReviewsiTIMM8A
MalaCardsiTIMM8A
MIMi304700 phenotype
OpenTargetsiENSG00000126953
Orphaneti52368 Mohr-Tranebjaerg syndrome
PharmGKBiPA36523

Polymorphism and mutation databases

BioMutaiTIMM8A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001935841 – 97Mitochondrial import inner membrane translocase subunit Tim8 AAdd BLAST97

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi43 ↔ 66By similarity
Disulfide bondi47 ↔ 62By similarity
Modified residuei57PhosphoserineBy similarity1
Modified residuei87PhosphoserineBy similarity1
Modified residuei94PhosphoserineCombined sources1
Modified residuei96PhosphoserineCombined sources1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiO60220
MaxQBiO60220
PaxDbiO60220
PeptideAtlasiO60220
PRIDEiO60220
ProteomicsDBi49248
TopDownProteomicsiO60220

PTM databases

iPTMnetiO60220
PhosphoSitePlusiO60220

Expressioni

Tissue specificityi

Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.

Gene expression databases

BgeeiENSG00000126953 Expressed in 91 organ(s), highest expression level in liver
CleanExiHS_TIMM8A
GenevisibleiO60220 HS

Organism-specific databases

HPAiHPA003628

Interactioni

Subunit structurei

Heterohexamer; composed of 3 copies of TIMM8A and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22.

Binary interactionsi

Protein-protein interaction databases

BioGridi108042, 16 interactors
CORUMiO60220
IntActiO60220, 23 interactors
MINTiO60220
STRINGi9606.ENSP00000361993

Structurei

3D structure databases

ProteinModelPortaliO60220
SMRiO60220
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi43 – 66Twin CX3C motifAdd BLAST24

Domaini

The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).By similarity

Sequence similaritiesi

Belongs to the small Tim family.Curated

Phylogenomic databases

eggNOGiKOG3489 Eukaryota
ENOG41126D5 LUCA
GeneTreeiENSGT00390000016102
HOGENOMiHOG000115758
HOVERGENiHBG060492
InParanoidiO60220
KOiK17780
OMAiIESQKQR
OrthoDBiEOG091G11XE
PhylomeDBiO60220
TreeFamiTF106191

Family and domain databases

Gene3Di1.10.287.810, 1 hit
InterProiView protein in InterPro
IPR004217 Tim10-like
IPR035427 Tim10-like_dom_sf
IPR039238 Tim8/13
PANTHERiPTHR19338 PTHR19338, 1 hit
PfamiView protein in Pfam
PF02953 zf-Tim10_DDP, 1 hit
SUPFAMiSSF144122 SSF144122, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O60220-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDSSSSSSAA GLGAVDPQLQ HFIEVETQKQ RFQQLVHQMT ELCWEKCMDK
60 70 80 90
PGPKLDSRAE ACFVNCVERF IDTSQFILNR LEQTQKSKPV FSESLSD
Length:97
Mass (Da):10,998
Last modified:August 1, 1998 - v1
Checksum:iCB72822290F20AB0
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YDA8A0A2R8YDA8_HUMAN
Mitochondrial import inner membrane...
TIMM8A
48Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62C → R in AAH70284 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01023766C → W in MTS; disrupts the assembly of the heterohexamer with TIMM13. 3 PublicationsCorresponds to variant dbSNP:rs80356560EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66035 mRNA Translation: AAC15946.1
AK312117 mRNA Translation: BAG35053.1
AL035422 Genomic DNA No translation available.
CH471115 Genomic DNA Translation: EAX02854.1
BC006994 mRNA Translation: AAH06994.1
BC015093 mRNA Translation: AAH15093.1
BC070284 mRNA Translation: AAH70284.1
CCDSiCCDS14481.1
RefSeqiNP_004076.1, NM_004085.3
UniGeneiHs.447877

Genome annotation databases

EnsembliENST00000372902; ENSP00000361993; ENSG00000126953
ENST00000647359; ENSP00000494465; ENSG00000126953
GeneIDi1678
KEGGihsa:1678
UCSCiuc004ehd.3 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66035 mRNA Translation: AAC15946.1
AK312117 mRNA Translation: BAG35053.1
AL035422 Genomic DNA No translation available.
CH471115 Genomic DNA Translation: EAX02854.1
BC006994 mRNA Translation: AAH06994.1
BC015093 mRNA Translation: AAH15093.1
BC070284 mRNA Translation: AAH70284.1
CCDSiCCDS14481.1
RefSeqiNP_004076.1, NM_004085.3
UniGeneiHs.447877

3D structure databases

ProteinModelPortaliO60220
SMRiO60220
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108042, 16 interactors
CORUMiO60220
IntActiO60220, 23 interactors
MINTiO60220
STRINGi9606.ENSP00000361993

PTM databases

iPTMnetiO60220
PhosphoSitePlusiO60220

Polymorphism and mutation databases

BioMutaiTIMM8A

Proteomic databases

EPDiO60220
MaxQBiO60220
PaxDbiO60220
PeptideAtlasiO60220
PRIDEiO60220
ProteomicsDBi49248
TopDownProteomicsiO60220

Protocols and materials databases

DNASUi1678
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372902; ENSP00000361993; ENSG00000126953
ENST00000647359; ENSP00000494465; ENSG00000126953
GeneIDi1678
KEGGihsa:1678
UCSCiuc004ehd.3 human

Organism-specific databases

CTDi1678
DisGeNETi1678
EuPathDBiHostDB:ENSG00000126953.5
GeneCardsiTIMM8A
GeneReviewsiTIMM8A
HGNCiHGNC:11817 TIMM8A
HPAiHPA003628
MalaCardsiTIMM8A
MIMi300356 gene
304700 phenotype
neXtProtiNX_O60220
OpenTargetsiENSG00000126953
Orphaneti52368 Mohr-Tranebjaerg syndrome
PharmGKBiPA36523
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3489 Eukaryota
ENOG41126D5 LUCA
GeneTreeiENSGT00390000016102
HOGENOMiHOG000115758
HOVERGENiHBG060492
InParanoidiO60220
KOiK17780
OMAiIESQKQR
OrthoDBiEOG091G11XE
PhylomeDBiO60220
TreeFamiTF106191

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Miscellaneous databases

GeneWikiiTIMM8A
GenomeRNAii1678
PROiPR:O60220
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126953 Expressed in 91 organ(s), highest expression level in liver
CleanExiHS_TIMM8A
GenevisibleiO60220 HS

Family and domain databases

Gene3Di1.10.287.810, 1 hit
InterProiView protein in InterPro
IPR004217 Tim10-like
IPR035427 Tim10-like_dom_sf
IPR039238 Tim8/13
PANTHERiPTHR19338 PTHR19338, 1 hit
PfamiView protein in Pfam
PF02953 zf-Tim10_DDP, 1 hit
SUPFAMiSSF144122 SSF144122, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTIM8A_HUMAN
AccessioniPrimary (citable) accession number: O60220
Secondary accession number(s): B2R5A6, Q6IRW6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: September 12, 2018
This is version 167 of the entry and version 1 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, 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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