O96008 (TOM40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	361 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Ion transport Protein transport Transport
Cellular component	Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane beta strand
Molecular function	Porin
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cellular protein metabolic process Traceable author statement. Source: Reactome ion transport Inferred from electronic annotation. Source: UniProtKB-KW protein targeting to mitochondrion Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	integral to mitochondrial outer membrane Inferred from sequence or structural similarity PubMed 10980201. Source: BHF-UCL mitochondrial outer membrane translocase complex Inferred from direct assay Ref.6Ref.7. Source: BHF-UCL pore complex Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	porin activity Inferred from electronic annotation. Source: UniProtKB-KW protein transmembrane transporter activity Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 361	361	Mitochondrial import receptor subunit TOM40 homolog		PRO_0000051523
Regions
	Compositional bias	10 – 39	30	Pro-rich
Natural variations
	Alternative sequence	317 – 329	13	SVDSN…GATLE → KGLGSPTRETGRR in isoform 2.		VSP_008589
	Alternative sequence	330 – 361	32	Missing in isoform 2.		VSP_008590
Experimental info
	Sequence conflict	49	1	S → R in AAH06413. Ref.4
	Sequence conflict	219	1	A → S in AAL46625. Ref.3
	Sequence conflict	220	1	H → R in AAL46624. Ref.3
	Sequence conflict	258	1	N → S in AAL46626. Ref.3
	Sequence conflict	297	1	T → A in AAL46626. Ref.3
	Sequence conflict	313	1	L → F in AAL46624. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: CFE55E01F8003D32	FASTA	361	37,893
	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
	Isoform 2 [UniParc]. Checksum: ADE7536E9A9ECDCF	FASTA	329	34,441
	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 FGYQLDLPKA NLLFKGKGLG SPTRETGRR

References

	« Hide 'large scale' referencesShow '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, 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 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.
IPI	IPI00014053. IPI00376117.
RefSeq	NP_001122388.1. NM_001128916.1. NP_001122389.1. NM_001128917.1. NP_006105.1. NM_006114.2.
UniGene	Hs.655909.
3D structure databases
ProteinModelPortal	O96008.
ModBase	Search...
Protein-protein interaction databases
IntAct	O96008. 3 interactions.
STRING	9606.ENSP00000252487.
PTM databases
PhosphoSite	O96008.
2D gel databases
REPRODUCTION-2DPAGE	IPI00014053.
Proteomic databases
PaxDb	O96008.
PeptideAtlas	O96008.
PRIDE	O96008.
Protocols and materials databases
DNASU	10452.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252487; ENSP00000252487; ENSG00000130204. ENST00000405636; ENSP00000385184; ENSG00000130204. ENST00000426677; ENSP00000410339; ENSG00000130204. ENST00000592434; ENSP00000466084; ENSG00000130204.
GeneID	10452.
KEGG	hsa:10452.
UCSC	uc002ozx.4. human. uc002ozz.3. human.
Organism-specific databases
CTD	10452.
GeneCards	GC19P045394.
H-InvDB	HIX0041357.
HGNC	HGNC:18001. TOMM40.
HPA	CAB009156.
MIM	608061. gene.
neXtProt	NX_O96008.
PharmGKB	PA38274.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG275568.
HOGENOM	HOG000007440.
HOVERGEN	HBG054707.
InParanoid	O96008.
KO	K11518.
OMA	YPILLGD.
OrthoDB	EOG40K80F.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
Bgee	O96008.
CleanEx	HS_TOMM40.
Genevestigator	O96008.
GermOnline	ENSG00000130204. Homo sapiens.
Family and domain databases
Gene3D	2.40.160.10. 1 hit.
InterPro	IPR023614. Porin_dom. IPR027246. Porin_Euk/Tom40. [Graphical view]
Pfam	PF01459. Porin_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TOMM40. human.
GenomeRNAi	10452.
NextBio	39623.
SOURCE	Search...

Entry information

Entry name

TOM40_HUMAN

Accession

Primary (citable) accession number: O96008
Secondary accession number(s): Q86VW4 , Q8WY09, Q8WY10, Q8WY11, Q9BR95

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 1, 1999
Last modified:	May 1, 2013
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.