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Protein

Mitochondrial import receptor subunit TOM40 homolog

Gene

TOMM40

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Channel-forming protein essential for import of protein precursors into mitochondria.By similarity

GO - Molecular functioni

GO - Biological processi

  • cellular protein metabolic process Source: Reactome
  • ion transport Source: UniProtKB-KW
  • protein targeting to mitochondrion Source: UniProtKB
  • protein transmembrane transport Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Porin

Keywords - Biological processi

Ion transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.

Protein family/group databases

TCDBi1.B.8.2.5. the mitochondrial and plastid porin (mpp) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial import receptor subunit TOM40 homolog
Alternative name(s):
Protein Haymaker
Translocase of outer membrane 40 kDa subunit homolog
p38.5
Gene namesi
Name:TOMM40
Synonyms:C19orf1, PEREC1, TOM40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:18001. TOMM40.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: BHF-UCL
  • integral component of mitochondrial outer membrane Source: BHF-UCL
  • mitochondrial outer membrane translocase complex Source: BHF-UCL
  • mitochondrion Source: HPA
  • nucleoplasm Source: HPA
  • pore complex Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38274.

Polymorphism and mutation databases

BioMutaiTOMM40.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 361361Mitochondrial import receptor subunit TOM40 homologPRO_0000051523Add
BLAST

Proteomic databases

MaxQBiO96008.
PaxDbiO96008.
PeptideAtlasiO96008.
PRIDEiO96008.

2D gel databases

REPRODUCTION-2DPAGEIPI00014053.

PTM databases

PhosphoSiteiO96008.

Expressioni

Gene expression databases

BgeeiO96008.
CleanExiHS_TOMM40.
ExpressionAtlasiO96008. baseline and differential.
GenevestigatoriO96008.

Organism-specific databases

HPAiCAB009156.
HPA036231.
HPA036232.

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.3 Publications

Protein-protein interaction databases

BioGridi115716. 59 interactions.
IntActiO96008. 5 interactions.
MINTiMINT-3003386.
STRINGi9606.ENSP00000252487.

Structurei

3D structure databases

ProteinModelPortaliO96008.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi10 – 3930Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the Tom40 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane beta strand

Phylogenomic databases

eggNOGiNOG275568.
GeneTreeiENSGT00390000003308.
HOGENOMiHOG000007440.
HOVERGENiHBG054707.
InParanoidiO96008.
KOiK11518.
OMAiDHSKKNY.
PhylomeDBiO96008.
TreeFamiTF106204.

Family and domain databases

Gene3Di2.40.160.10. 1 hit.
InterProiIPR023614. Porin_dom.
IPR027246. Porin_Euk/Tom40.
[Graphical view]
PfamiPF01459. Porin_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O96008-1) [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
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
Length:361
Mass (Da):37,893
Last modified:May 1, 1999 - v1
Checksum:iCFE55E01F8003D32
GO
Isoform 2 (identifier: O96008-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     317-329: SVDSNWIVGATLE → KGLGSPTRETGRR
     330-361: Missing.

Note: No experimental confirmation available.

Show »
Length:329
Mass (Da):34,441
Checksum:iADE7536E9A9ECDCF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti49 – 491S → R in AAH06413 (PubMed:15489334).Curated
Sequence conflicti219 – 2191A → S in AAL46625 (PubMed:11745481).Curated
Sequence conflicti220 – 2201H → R in AAL46624 (PubMed:11745481).Curated
Sequence conflicti258 – 2581N → S in AAL46626 (PubMed:11745481).Curated
Sequence conflicti297 – 2971T → A in AAL46626 (PubMed:11745481).Curated
Sequence conflicti313 – 3131L → F in AAL46624 (PubMed:11745481).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei317 – 32913SVDSN…GATLE → KGLGSPTRETGRR in isoform 2. 1 PublicationVSP_008589Add
BLAST
Alternative sequencei330 – 36132Missing in isoform 2. 1 PublicationVSP_008590Add
BLAST

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.
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.
CCDSiCCDS12646.1. [O96008-1]
RefSeqiNP_001122388.1. NM_001128916.1. [O96008-1]
NP_001122389.1. NM_001128917.1. [O96008-1]
NP_006105.1. NM_006114.2. [O96008-1]
UniGeneiHs.655909.

Genome annotation databases

EnsembliENST00000252487; ENSP00000252487; ENSG00000130204. [O96008-1]
ENST00000405636; ENSP00000385184; ENSG00000130204. [O96008-1]
ENST00000426677; ENSP00000410339; ENSG00000130204. [O96008-1]
ENST00000592434; ENSP00000466084; ENSG00000130204. [O96008-2]
GeneIDi10452.
KEGGihsa:10452.
UCSCiuc002ozx.4. human. [O96008-1]
uc002ozz.3. human. [O96008-2]

Keywords - Coding sequence diversityi

Alternative splicing

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.
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.
CCDSiCCDS12646.1. [O96008-1]
RefSeqiNP_001122388.1. NM_001128916.1. [O96008-1]
NP_001122389.1. NM_001128917.1. [O96008-1]
NP_006105.1. NM_006114.2. [O96008-1]
UniGeneiHs.655909.

3D structure databases

ProteinModelPortaliO96008.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115716. 59 interactions.
IntActiO96008. 5 interactions.
MINTiMINT-3003386.
STRINGi9606.ENSP00000252487.

Protein family/group databases

TCDBi1.B.8.2.5. the mitochondrial and plastid porin (mpp) family.

PTM databases

PhosphoSiteiO96008.

Polymorphism and mutation databases

BioMutaiTOMM40.

2D gel databases

REPRODUCTION-2DPAGEIPI00014053.

Proteomic databases

MaxQBiO96008.
PaxDbiO96008.
PeptideAtlasiO96008.
PRIDEiO96008.

Protocols and materials databases

DNASUi10452.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252487; ENSP00000252487; ENSG00000130204. [O96008-1]
ENST00000405636; ENSP00000385184; ENSG00000130204. [O96008-1]
ENST00000426677; ENSP00000410339; ENSG00000130204. [O96008-1]
ENST00000592434; ENSP00000466084; ENSG00000130204. [O96008-2]
GeneIDi10452.
KEGGihsa:10452.
UCSCiuc002ozx.4. human. [O96008-1]
uc002ozz.3. human. [O96008-2]

Organism-specific databases

CTDi10452.
GeneCardsiGC19P045394.
H-InvDBHIX0041357.
HGNCiHGNC:18001. TOMM40.
HPAiCAB009156.
HPA036231.
HPA036232.
MIMi608061. gene.
neXtProtiNX_O96008.
PharmGKBiPA38274.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG275568.
GeneTreeiENSGT00390000003308.
HOGENOMiHOG000007440.
HOVERGENiHBG054707.
InParanoidiO96008.
KOiK11518.
OMAiDHSKKNY.
PhylomeDBiO96008.
TreeFamiTF106204.

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.

Miscellaneous databases

ChiTaRSiTOMM40. human.
GeneWikiiTOMM40.
GenomeRNAii10452.
NextBioi39623.
PROiO96008.
SOURCEiSearch...

Gene expression databases

BgeeiO96008.
CleanExiHS_TOMM40.
ExpressionAtlasiO96008. baseline and differential.
GenevestigatoriO96008.

Family and domain databases

Gene3Di2.40.160.10. 1 hit.
InterProiIPR023614. Porin_dom.
IPR027246. Porin_Euk/Tom40.
[Graphical view]
PfamiPF01459. Porin_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1."
    Freitas E.M., Zhang W.J., Lalonde J.P., Tay G.K., Gaudieri S., Ashworth L.K., Van Bockxmeer F.M., Dawkins R.L.
    DNA Seq. 9:89-100(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "A transcriptional map in the region of 19q13 derived using direct sequencing and exon trapping."
    Yoshiura K., Murray J.C.
    Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
  3. "Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and non-malignant cells."
    Das B., Tao S.-Z., Mushnitsky R., Norin A.J.
    Int. J. Cancer 94:800-806(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Lymphocyte.
  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 2).
    Tissue: Eye, Lung, Skin, Testis and Uterus.
  5. Lubec G., Vishwanath V.
    Submitted (MAR-2007) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 185-195 AND 332-348, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Brain and Cajal-Retzius cell.
  6. "Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane."
    Johnston A.J., Hoogenraad J., Dougan D.A., Truscott K.N., Yano M., Mori M., Hoogenraad N.J., Ryan M.T.
    J. Biol. Chem. 277:42197-42204(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TOM COMPLEX WITH TOMM7; TOMM20 AND TOMM22.
  7. "Dissection of the mitochondrial import and assembly pathway for human Tom40."
    Humphries A.D., Streimann I.C., Stojanovski D., Johnston A.J., Yano M., Hoogenraad N.J., Ryan M.T.
    J. Biol. Chem. 280:11535-11543(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TOM COMPLEX WITH TOMM20; TOMM22 AND TOMM70.
  8. "Identification of Tom5 and Tom6 in the preprotein translocase complex of human mitochondrial outer membrane."
    Kato H., Mihara K.
    Biochem. Biophys. Res. Commun. 369:958-963(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TOM COMPLEX.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiTOM40_HUMAN
AccessioniPrimary (citable) accession number: O96008
Secondary accession number(s): Q86VW4
, Q8WY09, Q8WY10, Q8WY11, Q9BR95
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 1999
Last modified: May 27, 2015
This is version 124 of the entry and version 1 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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.