Seroatlas · Human Serome Atlas

SMAD7

Mothers against decapentaplegic homolog 7

Also known as: MADH7, MADH8, SMAD7_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O15105
Gene: SMAD7
Ensembl: ENSG00000101665
Chromosome: 18
Canonical length: 426 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli fibrillar center,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

426 residues, UniProt reviewed canonical sequence.

>O15105|SMAD7
     1  MFRTKRSALV RRLWRSRAPG GEDEEEGAGG GGGGGELRGE GATDSRAHGA GGGGPGRAGC
    61  CLGKAVRGAK GHHHPHPPAA GAGAAGGAEA DLKALTHSVL KKLKERQLEL LLQAVESRGG
   121  TRTACLLLPG RLDCRLGPGA PAGAQPAQPP SSYSLPLLLC KVFRWPDLRH SSEVKRLCCC
   181  ESYGKINPEL VCCNPHHLSR LCELESPPPP YSRYPMDFLK PTADCPDAVP SSAETGGTNY
   241  LAPGGLSDSQ LLLEPGDRSH WCVVAYWEEK TRVGRLYCVQ EPSLDIFYDL PQGNGFCLGQ
   301  LNSDNKSQLV QKVRSKIGCG IQLTREVDGV WVYNRSSYPI FIKSATLDNP DSRTLLVHKV
   361  FPGFSIKAFD YEKAYSLQRP NDHEFMQQPW TGFTVQISFV KGWGQCYTRQ FISSCPCWLE
   421  VIFNSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMAD7 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.43
Highest tissue expression: 49 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 49 nTPM
heart muscle: 36 nTPM
lung: 23 nTPM
placenta: 20 nTPM
bone marrow: 19 nTPM
cervix: 18 nTPM

Single-cell type

alveolar cells type 1: 115 nCPM
endometrial luminal cells: 82 nCPM
endometrial glandular cells: 65 nCPM
vascular endothelial cells: 64 nCPM
endometrial ciliated cells: 60 nCPM
endometrial stromal cells: 57 nCPM

Immune cell

eosinophil: 5.6 nTPM
basophil: 4.5 nTPM
NK-cell: 1.9 nTPM
T-reg: 1.3 nTPM
gdT-cell: 0.8 nTPM
memory CD4 T-cell: 0.8 nTPM

Brain region

cerebellum: 33 nTPM
medulla oblongata: 32 nTPM
spinal cord: 31 nTPM
choroid plexus: 29 nTPM
pons: 27 nTPM
midbrain: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMAD7.

Disease | AllUniProt

Conditions SMAD7 is implicated in, by any mechanism.

Colorectal cancer 3 (CRCS3) MIM:612229

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): 0.51
gnomAD pLI: 0.55
gnomAD missense Z: 1.65
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMAD7 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 SMAD7 as an antibody target. Whether an autoantibody or antibody against SMAD7 could matter depends on whether native SMAD7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMAD7 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 SMAD7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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