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O96008 (TOM40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial import receptor subunit TOM40 homolog
Alternative name(s):
Protein Haymaker
Translocase of outer membrane 40 kDa subunit homolog
p38.5
Gene names
Name:TOMM40
Synonyms:C19orf1, PEREC1, TOM40
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length361 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Channel-forming protein essential for import of protein precursors into mitochondria By similarity. Ref.7

Subunit structure

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. Ref.6 Ref.7 Ref.8

Subcellular location

Mitochondrion outer membrane; Multi-pass membrane protein Ref.7.

Sequence similarities

Belongs to the Tom40 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O96008-1)

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.
Isoform 2 (identifier: O96008-2)

The sequence of this isoform differs from the canonical sequence as follows:
     317-329: SVDSNWIVGATLE → KGLGSPTRETGRR
     330-361: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 361361Mitochondrial import receptor subunit TOM40 homolog
PRO_0000051523

Regions

Compositional bias10 – 3930Pro-rich

Natural variations

Alternative sequence317 – 32913SVDSN…GATLE → KGLGSPTRETGRR in isoform 2.
VSP_008589
Alternative sequence330 – 36132Missing in isoform 2.
VSP_008590

Experimental info

Sequence conflict491S → R in AAH06413. Ref.4
Sequence conflict2191A → S in AAL46625. Ref.3
Sequence conflict2201H → R in AAL46624. Ref.3
Sequence conflict2581N → S in AAL46626. Ref.3
Sequence conflict2971T → A in AAL46626. Ref.3
Sequence conflict3131L → F in AAL46624. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: CFE55E01F8003D32

FASTA36137,893
        10         20         30         40         50         60 
MGNVLAASSP PAGPPPPPAP ALVGLPPPPP SPPGFTLPPL GGSLGAGTST SRSSERTPGA 

        70         80         90        100        110        120 
ATASASGAAE DGACGCLPNP GTFEECHRKC KELFPIQMEG VKLTVNKGLS NHFQVNHTVA 

       130        140        150        160        170        180 
LSTIGESNYH FGVTYVGTKQ LSPTEAFPVL VGDMDNSGSL NAQVIHQLGP GLRSKMAIQT 

       190        200        210        220        230        240 
QQSKFVNWQV DGEYRGSDFT AAVTLGNPDV LVGSGILVAH YLQSITPCLA LGGELVYHRR 

       250        260        270        280        290        300 
PGEEGTVMSL AGKYTLNNWL ATVTLGQAGM HATYYHKASD QLQVGVEFEA STRMQDTSVS 

       310        320        330        340        350        360 
FGYQLDLPKA NLLFKGSVDS NWIVGATLEK KLPPLPLTLA LGAFLNHRKN KFQCGFGLTI 


G 

« Hide

Isoform 2 [UniParc].

Checksum: ADE7536E9A9ECDCF
Show »

FASTA32934,441

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS12646.1. [O96008-1]
RefSeqNP_001122388.1. NM_001128916.1. [O96008-1]
NP_001122389.1. NM_001128917.1. [O96008-1]
NP_006105.1. NM_006114.2. [O96008-1]
UniGeneHs.655909.

3D structure databases

ProteinModelPortalO96008.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115716. 49 interactions.
IntActO96008. 5 interactions.
MINTMINT-3003386.
STRING9606.ENSP00000252487.

PTM databases

PhosphoSiteO96008.

2D gel databases

REPRODUCTION-2DPAGEIPI00014053.

Proteomic databases

MaxQBO96008.
PaxDbO96008.
PeptideAtlasO96008.
PRIDEO96008.

Protocols and materials databases

DNASU10452.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252487; ENSP00000252487; ENSG00000130204. [O96008-1]
ENST00000405636; ENSP00000385184; ENSG00000130204. [O96008-1]
ENST00000426677; ENSP00000410339; ENSG00000130204. [O96008-1]
ENST00000592434; ENSP00000466084; ENSG00000130204. [O96008-2]
GeneID10452.
KEGGhsa:10452.
UCSCuc002ozx.4. human. [O96008-1]
uc002ozz.3. human. [O96008-2]

Organism-specific databases

CTD10452.
GeneCardsGC19P045394.
H-InvDBHIX0041357.
HGNCHGNC:18001. TOMM40.
HPACAB009156.
HPA036231.
MIM608061. gene.
neXtProtNX_O96008.
PharmGKBPA38274.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG275568.
HOGENOMHOG000007440.
HOVERGENHBG054707.
InParanoidO96008.
KOK11518.
OMATRMQDTT.
PhylomeDBO96008.
TreeFamTF106204.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressO96008.
BgeeO96008.
CleanExHS_TOMM40.
GenevestigatorO96008.

Family and domain databases

Gene3D2.40.160.10. 1 hit.
InterProIPR023614. Porin_dom.
IPR027246. Porin_Euk/Tom40.
[Graphical view]
PfamPF01459. Porin_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTOMM40. human.
GeneWikiTOMM40.
GenomeRNAi10452.
NextBio39623.
PROO96008.
SOURCESearch...

Entry information

Entry nameTOM40_HUMAN
AccessionPrimary (citable) accession number: O96008
Secondary accession number(s): Q86VW4 expand/collapse secondary AC list , Q8WY09, Q8WY10, Q8WY11, Q9BR95
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM