UniProtKB - O96008 (TOM40_HUMAN)
Mitochondrial import receptor subunit TOM40 homolog
TOMM40
Functioni
GO - Molecular functioni
- porin activity Source: UniProtKB-KW
- protein transmembrane transporter activity Source: BHF-UCL
GO - Biological processi
- ion transport Source: UniProtKB-KW
- macroautophagy Source: Reactome
- protein import into mitochondrial matrix Source: GO_Central
- protein targeting to mitochondrion Source: UniProtKB
Keywordsi
Molecular function | Porin |
Biological process | Ion transport, Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | O96008 |
Reactomei | R-HSA-1268020, Mitochondrial protein import R-HSA-5205685, PINK1-PRKN Mediated Mitophagy |
Protein family/group databases
TCDBi | 1.B.8.2.5, the mitochondrial and plastid porin (mpp) family |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial import receptor subunit TOM40 homologAlternative name(s): Protein Haymaker Translocase of outer membrane 40 kDa subunit homolog p38.5 |
Gene namesi | Name:TOMM40 Synonyms:C19orf1, PEREC1, TOM40 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000130204.12 |
HGNCi | HGNC:18001, TOMM40 |
MIMi | 608061, gene |
neXtProti | NX_O96008 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Note: Associates with the mitochondria-associated ER membrane via interaction with BCAP31.1 Publication
Cytosol
- cytosol Source: HPA
Mitochondrion
- integral component of mitochondrial outer membrane Source: BHF-UCL
- mitochondrial inner membrane Source: CAFA
- mitochondrial outer membrane Source: Reactome
- mitochondrial outer membrane translocase complex Source: BHF-UCL
- mitochondrion Source: HPA
Other locations
- integral component of membrane Source: BHF-UCL
- mitochondria-associated endoplasmic reticulum membrane Source: UniProtKB
- pore complex Source: UniProtKB-KW
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Organism-specific databases
DisGeNETi | 10452 |
MalaCardsi | TOMM40 |
OpenTargetsi | ENSG00000130204 |
Orphaneti | 1020, Early-onset autosomal dominant Alzheimer disease |
PharmGKBi | PA38274 |
Miscellaneous databases
Pharosi | O96008, Tbio |
Polymorphism and mutation databases
BioMutai | TOMM40 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051523 | 1 – 361 | Mitochondrial import receptor subunit TOM40 homologAdd BLAST | 361 |
Proteomic databases
EPDi | O96008 |
jPOSTi | O96008 |
MassIVEi | O96008 |
MaxQBi | O96008 |
PaxDbi | O96008 |
PeptideAtlasi | O96008 |
PRIDEi | O96008 |
ProteomicsDBi | 51187 [O96008-1] 51188 [O96008-2] |
TopDownProteomicsi | O96008-1 [O96008-1] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00014053 |
PTM databases
iPTMneti | O96008 |
MetOSitei | O96008 |
PhosphoSitePlusi | O96008 |
SwissPalmi | O96008 |
Expressioni
Gene expression databases
Bgeei | ENSG00000130204, Expressed in dorsal plus ventral thalamus and 252 other tissues |
ExpressionAtlasi | O96008, baseline and differential |
Genevisiblei | O96008, HS |
Organism-specific databases
HPAi | ENSG00000130204, Low tissue specificity |
Interactioni
Subunit structurei
Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70).
Interacts with mitochondrial targeting sequences (PubMed:12198123, PubMed:15644312, PubMed:18331822).
Interacts with TIMM29; linking the TIM22 complex to the TOM complex (PubMed:27554484).
Forms a complex with BCAP31 (via C-terminus) which mediates the translocation of components of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) from the cytosol to the mitochondria (PubMed:31206022).
Interacts (via N-terminus) with CYP1A1 (via mitochondrial targeting signal); this interaction is required for CYP1A1 translocation across the mitochondrial outer membrane (By similarity).
By similarity5 PublicationsProtein-protein interaction databases
BioGRIDi | 115716, 223 interactors |
CORUMi | O96008 |
IntActi | O96008, 51 interactors |
MINTi | O96008 |
STRINGi | 9606.ENSP00000410339 |
Miscellaneous databases
RNActi | O96008, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 10 – 39 | Pro-richAdd BLAST | 30 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane beta strandPhylogenomic databases
eggNOGi | KOG3296, Eukaryota |
GeneTreei | ENSGT00390000003308 |
HOGENOMi | CLU_054399_0_0_1 |
InParanoidi | O96008 |
OMAi | DFRMSTF |
OrthoDBi | 1346842at2759 |
PhylomeDBi | O96008 |
TreeFami | TF106204 |
Family and domain databases
CDDi | cd07305, Porin3_Tom40, 1 hit |
Gene3Di | 2.40.160.10, 1 hit |
InterProi | View protein in InterPro IPR023614, Porin_dom_sf IPR027246, Porin_Euk/Tom40 IPR037930, Tom40 |
PANTHERi | PTHR10802, PTHR10802, 1 hit |
Pfami | View protein in Pfam PF01459, Porin_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGNVLAASSP PAGPPPPPAP ALVGLPPPPP SPPGFTLPPL GGSLGAGTST
60 70 80 90 100
SRSSERTPGA ATASASGAAE DGACGCLPNP GTFEECHRKC KELFPIQMEG
110 120 130 140 150
VKLTVNKGLS NHFQVNHTVA LSTIGESNYH FGVTYVGTKQ LSPTEAFPVL
160 170 180 190 200
VGDMDNSGSL NAQVIHQLGP GLRSKMAIQT QQSKFVNWQV DGEYRGSDFT
210 220 230 240 250
AAVTLGNPDV LVGSGILVAH YLQSITPCLA LGGELVYHRR PGEEGTVMSL
260 270 280 290 300
AGKYTLNNWL ATVTLGQAGM HATYYHKASD QLQVGVEFEA STRMQDTSVS
310 320 330 340 350
FGYQLDLPKA NLLFKGSVDS NWIVGATLEK KLPPLPLTLA LGAFLNHRKN
360
KFQCGFGLTI G
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EJ57 | K7EJ57_HUMAN | Mitochondrial import receptor subun... | TOMM40 | 214 | Annotation score: | ||
K7EKG4 | K7EKG4_HUMAN | Mitochondrial import receptor subun... | TOMM40 | 168 | Annotation score: | ||
K7EKG6 | K7EKG6_HUMAN | Mitochondrial import receptor subun... | TOMM40 | 36 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 49 | S → R in AAH06413 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 219 | A → S in AAL46625 (PubMed:11745481).Curated | 1 | |
Sequence conflicti | 220 | H → R in AAL46624 (PubMed:11745481).Curated | 1 | |
Sequence conflicti | 258 | N → S in AAL46626 (PubMed:11745481).Curated | 1 | |
Sequence conflicti | 297 | T → A in AAL46626 (PubMed:11745481).Curated | 1 | |
Sequence conflicti | 313 | L → F in AAL46624 (PubMed:11745481).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008589 | 317 – 329 | SVDSN…GATLE → KGLGSPTRETGRR in isoform 2. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_008590 | 330 – 361 | Missing in isoform 2. 1 PublicationAdd BLAST | 32 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF050154 Genomic DNA Translation: AAD02504.1 AF043250 mRNA Translation: AAC82342.1 AF043253, AF043251, AF043252 Genomic DNA Translation: AAC82343.1 AF316398 mRNA Translation: AAL46624.1 AF316399 mRNA Translation: AAL46625.1 AF316401 mRNA Translation: AAL46626.1 AF316402 mRNA Translation: AAL46627.1 CH471126 Genomic DNA Translation: EAW57302.1 CH471126 Genomic DNA Translation: EAW57304.1 CH471126 Genomic DNA Translation: EAW57305.1 BC001779 mRNA Translation: AAH01779.1 BC006413 mRNA Translation: AAH06413.1 BC012134 mRNA Translation: AAH12134.1 BC017224 mRNA Translation: AAH17224.1 BC047528 mRNA Translation: AAH47528.1 |
CCDSi | CCDS12646.1 [O96008-1] |
RefSeqi | NP_001122388.1, NM_001128916.1 [O96008-1] NP_001122389.1, NM_001128917.1 [O96008-1] NP_006105.1, NM_006114.2 [O96008-1] |
Genome annotation databases
Ensembli | ENST00000252487; ENSP00000252487; ENSG00000130204 [O96008-1] ENST00000405636; ENSP00000385184; ENSG00000130204 [O96008-1] ENST00000426677; ENSP00000410339; ENSG00000130204 [O96008-1] ENST00000592434; ENSP00000466084; ENSG00000130204 [O96008-2] |
GeneIDi | 10452 |
KEGGi | hsa:10452 |
UCSCi | uc002ozx.4, human [O96008-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF050154 Genomic DNA Translation: AAD02504.1 AF043250 mRNA Translation: AAC82342.1 AF043253, AF043251, AF043252 Genomic DNA Translation: AAC82343.1 AF316398 mRNA Translation: AAL46624.1 AF316399 mRNA Translation: AAL46625.1 AF316401 mRNA Translation: AAL46626.1 AF316402 mRNA Translation: AAL46627.1 CH471126 Genomic DNA Translation: EAW57302.1 CH471126 Genomic DNA Translation: EAW57304.1 CH471126 Genomic DNA Translation: EAW57305.1 BC001779 mRNA Translation: AAH01779.1 BC006413 mRNA Translation: AAH06413.1 BC012134 mRNA Translation: AAH12134.1 BC017224 mRNA Translation: AAH17224.1 BC047528 mRNA Translation: AAH47528.1 |
CCDSi | CCDS12646.1 [O96008-1] |
RefSeqi | NP_001122388.1, NM_001128916.1 [O96008-1] NP_001122389.1, NM_001128917.1 [O96008-1] NP_006105.1, NM_006114.2 [O96008-1] |
3D structure databases
SMRi | O96008 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115716, 223 interactors |
CORUMi | O96008 |
IntActi | O96008, 51 interactors |
MINTi | O96008 |
STRINGi | 9606.ENSP00000410339 |
Protein family/group databases
TCDBi | 1.B.8.2.5, the mitochondrial and plastid porin (mpp) family |
PTM databases
iPTMneti | O96008 |
MetOSitei | O96008 |
PhosphoSitePlusi | O96008 |
SwissPalmi | O96008 |
Polymorphism and mutation databases
BioMutai | TOMM40 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00014053 |
Proteomic databases
EPDi | O96008 |
jPOSTi | O96008 |
MassIVEi | O96008 |
MaxQBi | O96008 |
PaxDbi | O96008 |
PeptideAtlasi | O96008 |
PRIDEi | O96008 |
ProteomicsDBi | 51187 [O96008-1] 51188 [O96008-2] |
TopDownProteomicsi | O96008-1 [O96008-1] |
Protocols and materials databases
Antibodypediai | 3972, 142 antibodies |
DNASUi | 10452 |
Genome annotation databases
Ensembli | ENST00000252487; ENSP00000252487; ENSG00000130204 [O96008-1] ENST00000405636; ENSP00000385184; ENSG00000130204 [O96008-1] ENST00000426677; ENSP00000410339; ENSG00000130204 [O96008-1] ENST00000592434; ENSP00000466084; ENSG00000130204 [O96008-2] |
GeneIDi | 10452 |
KEGGi | hsa:10452 |
UCSCi | uc002ozx.4, human [O96008-1] |
Organism-specific databases
CTDi | 10452 |
DisGeNETi | 10452 |
EuPathDBi | HostDB:ENSG00000130204.12 |
GeneCardsi | TOMM40 |
HGNCi | HGNC:18001, TOMM40 |
HPAi | ENSG00000130204, Low tissue specificity |
MalaCardsi | TOMM40 |
MIMi | 608061, gene |
neXtProti | NX_O96008 |
OpenTargetsi | ENSG00000130204 |
Orphaneti | 1020, Early-onset autosomal dominant Alzheimer disease |
PharmGKBi | PA38274 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3296, Eukaryota |
GeneTreei | ENSGT00390000003308 |
HOGENOMi | CLU_054399_0_0_1 |
InParanoidi | O96008 |
OMAi | DFRMSTF |
OrthoDBi | 1346842at2759 |
PhylomeDBi | O96008 |
TreeFami | TF106204 |
Enzyme and pathway databases
PathwayCommonsi | O96008 |
Reactomei | R-HSA-1268020, Mitochondrial protein import R-HSA-5205685, PINK1-PRKN Mediated Mitophagy |
Miscellaneous databases
BioGRID-ORCSi | 10452, 710 hits in 855 CRISPR screens |
ChiTaRSi | TOMM40, human |
GeneWikii | TOMM40 |
GenomeRNAii | 10452 |
Pharosi | O96008, Tbio |
PROi | PR:O96008 |
RNActi | O96008, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130204, Expressed in dorsal plus ventral thalamus and 252 other tissues |
ExpressionAtlasi | O96008, baseline and differential |
Genevisiblei | O96008, HS |
Family and domain databases
CDDi | cd07305, Porin3_Tom40, 1 hit |
Gene3Di | 2.40.160.10, 1 hit |
InterProi | View protein in InterPro IPR023614, Porin_dom_sf IPR027246, Porin_Euk/Tom40 IPR037930, Tom40 |
PANTHERi | PTHR10802, PTHR10802, 1 hit |
Pfami | View protein in Pfam PF01459, Porin_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TOM40_HUMAN | |
Accessioni | O96008Primary (citable) accession number: O96008 Secondary accession number(s): A0A024R0P9 Q9BR95 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 11, 2001 |
Last sequence update: | May 1, 1999 | |
Last modified: | December 2, 2020 | |
This is version 173 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM