TOMM40
Mitochondrial import receptor subunit TOM40 homolog
Also known as: C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40, TOM40_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O96008
- Gene
- TOMM40
- Ensembl
- ENSG00000130204
- Chromosome
- 19
- Canonical length
- 361 aa
- Protein class
- Predicted intracellular proteins, Transporters
- Subcellular location
- Mitochondria,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Canonical amino-acid sequenceUniProt
361 residues, UniProt reviewed canonical sequence.
>O96008|TOMM40
1 MGNVLAASSP PAGPPPPPAP ALVGLPPPPP SPPGFTLPPL GGSLGAGTST SRSSERTPGA
61 ATASASGAAE DGACGCLPNP GTFEECHRKC KELFPIQMEG VKLTVNKGLS NHFQVNHTVA
121 LSTIGESNYH FGVTYVGTKQ LSPTEAFPVL VGDMDNSGSL NAQVIHQLGP GLRSKMAIQT
181 QQSKFVNWQV DGEYRGSDFT AAVTLGNPDV LVGSGILVAH YLQSITPCLA LGGELVYHRR
241 PGEEGTVMSL AGKYTLNNWL ATVTLGQAGM HATYYHKASD QLQVGVEFEA STRMQDTSVS
301 FGYQLDLPKA NLLFKGSVDS NWIVGATLEK KLPPLPLTLA LGAFLNHRKN KFQCGFGLTI
361 GLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TOMM40 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 19
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 61 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 61 nTPM
- adrenal gland: 56 nTPM
- esophagus: 50 nTPM
- liver: 48 nTPM
- heart muscle: 43 nTPM
- cerebral cortex: 37 nTPM
Single-cell type
- esophageal basal cells: 251 nCPM
- extravillous trophoblasts: 179 nCPM
- migrating cytotrophoblasts: 172 nCPM
- esophageal suprabasal cells: 154 nCPM
- enteric transient amplifying cells: 127 nCPM
- cytotrophoblasts: 124 nCPM
Immune cell
- memory B-cell: 5.8 nTPM
- naive CD8 T-cell: 5.4 nTPM
- naive CD4 T-cell: 4.9 nTPM
- intermediate monocyte: 4.6 nTPM
- myeloid DC: 4.6 nTPM
- plasmacytoid DC: 4.6 nTPM
Brain region
- thalamus: 52 nTPM
- cerebral cortex: 49 nTPM
- midbrain: 48 nTPM
- cerebellum: 47 nTPM
- hypothalamus: 47 nTPM
- pons: 47 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.21
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.16
- DepMap mean gene effect
- -1.16
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- monoatomic ion transport
- protein import into mitochondrial matrix
- protein insertion into mitochondrial outer membrane
- protein targeting to mitochondrion
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TOMM40 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TOMM40 as an antibody target. Whether an autoantibody or antibody against TOMM40 could matter depends on whether native TOMM40 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TOMM40 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TOMM40 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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