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O96008

- TOM40_HUMAN

UniProt

O96008 - TOM40_HUMAN

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Protein
Mitochondrial import receptor subunit TOM40 homolog
Gene
TOMM40, C19orf1, PEREC1, TOM40
Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

GO - Molecular functioni

  1. porin activity Source: UniProtKB-KW
  2. protein transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. ion transport Source: UniProtKB-KW
  3. protein targeting to mitochondrion Source: UniProtKB
  4. 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.

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: Chromosome 19

Organism-specific databases

HGNCiHGNC:18001. TOMM40.

Subcellular locationi

Mitochondrion outer membrane; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: BHF-UCL
  3. integral component of mitochondrial outer membrane Source: BHF-UCL
  4. mitochondrial outer membrane translocase complex Source: BHF-UCL
  5. pore complex Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38274.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 361361Mitochondrial import receptor subunit TOM40 homolog
PRO_0000051523Add
BLAST

Proteomic databases

MaxQBiO96008.
PaxDbiO96008.
PeptideAtlasiO96008.
PRIDEiO96008.

2D gel databases

REPRODUCTION-2DPAGEIPI00014053.

PTM databases

PhosphoSiteiO96008.

Expressioni

Gene expression databases

ArrayExpressiO96008.
BgeeiO96008.
CleanExiHS_TOMM40.
GenevestigatoriO96008.

Organism-specific databases

HPAiCAB009156.
HPA036231.

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. 49 interactions.
IntActiO96008. 5 interactions.
MINTiMINT-3003386.
STRINGi9606.ENSP00000252487.

Structurei

3D structure databases

ProteinModelPortaliO96008.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Belongs to the Tom40 family.

Keywords - Domaini

Transmembrane, Transmembrane beta strand

Phylogenomic databases

eggNOGiNOG275568.
HOGENOMiHOG000007440.
HOVERGENiHBG054707.
InParanoidiO96008.
KOiK11518.
OMAiTRMQDTT.
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. Align

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

MGNVLAASSP PAGPPPPPAP ALVGLPPPPP SPPGFTLPPL GGSLGAGTST    50
SRSSERTPGA ATASASGAAE DGACGCLPNP GTFEECHRKC KELFPIQMEG 100
VKLTVNKGLS NHFQVNHTVA LSTIGESNYH FGVTYVGTKQ LSPTEAFPVL 150
VGDMDNSGSL NAQVIHQLGP GLRSKMAIQT QQSKFVNWQV DGEYRGSDFT 200
AAVTLGNPDV LVGSGILVAH YLQSITPCLA LGGELVYHRR PGEEGTVMSL 250
AGKYTLNNWL ATVTLGQAGM HATYYHKASD QLQVGVEFEA STRMQDTSVS 300
FGYQLDLPKA NLLFKGSVDS NWIVGATLEK KLPPLPLTLA LGAFLNHRKN 350
KFQCGFGLTI G 361
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei317 – 32913SVDSN…GATLE → KGLGSPTRETGRR in isoform 2.
VSP_008589Add
BLAST
Alternative sequencei330 – 36132Missing in isoform 2.
VSP_008590Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti49 – 491S → R in AAH06413. 1 Publication
Sequence conflicti219 – 2191A → S in AAL46625. 1 Publication
Sequence conflicti220 – 2201H → R in AAL46624. 1 Publication
Sequence conflicti258 – 2581N → S in AAL46626. 1 Publication
Sequence conflicti297 – 2971T → A in AAL46626. 1 Publication
Sequence conflicti313 – 3131L → F in AAL46624. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
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 ]
UniGenei Hs.655909.

3D structure databases

ProteinModelPortali O96008.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115716. 49 interactions.
IntActi O96008. 5 interactions.
MINTi MINT-3003386.
STRINGi 9606.ENSP00000252487.

PTM databases

PhosphoSitei O96008.

2D gel databases

REPRODUCTION-2DPAGE IPI00014053.

Proteomic databases

MaxQBi O96008.
PaxDbi O96008.
PeptideAtlasi O96008.
PRIDEi O96008.

Protocols and materials databases

DNASUi 10452.
Structural Biology Knowledgebase Search...

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 ]
uc002ozz.3. human. [O96008-2 ]

Organism-specific databases

CTDi 10452.
GeneCardsi GC19P045394.
H-InvDB HIX0041357.
HGNCi HGNC:18001. TOMM40.
HPAi CAB009156.
HPA036231.
MIMi 608061. gene.
neXtProti NX_O96008.
PharmGKBi PA38274.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG275568.
HOGENOMi HOG000007440.
HOVERGENi HBG054707.
InParanoidi O96008.
KOi K11518.
OMAi TRMQDTT.
PhylomeDBi O96008.
TreeFami TF106204.

Enzyme and pathway databases

Reactomei REACT_118595. Mitochondrial protein import.

Miscellaneous databases

ChiTaRSi TOMM40. human.
GeneWikii TOMM40.
GenomeRNAii 10452.
NextBioi 39623.
PROi O96008.
SOURCEi Search...

Gene expression databases

ArrayExpressi O96008.
Bgeei O96008.
CleanExi HS_TOMM40.
Genevestigatori O96008.

Family and domain databases

Gene3Di 2.40.160.10. 1 hit.
InterProi IPR023614. Porin_dom.
IPR027246. Porin_Euk/Tom40.
[Graphical view ]
Pfami PF01459. Porin_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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].

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: September 3, 2014
This is version 117 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

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