Seroatlas · Human Serome Atlas

TGFBR1

TGF-beta receptor type-1

Also known as: ACVRLK4, ALK-5, ALK5, ESS1, MSSE, TBR-i, TBRI, TGFR1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P36897
Gene
TGFBR1
Ensembl
ENSG00000106799
Chromosome
9
Canonical length
503 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Plasma membrane,Primary cilium
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Canonical amino-acid sequenceUniProt

503 residues, UniProt reviewed canonical sequence.

>P36897|TGFBR1
     1  MEAAVAAPRP RLLLLVLAAA AAAAAALLPG ATALQCFCHL CTKDNFTCVT DGLCFVSVTE
    61  TTDKVIHNSM CIAEIDLIPR DRPFVCAPSS KTGSVTTTYC CNQDHCNKIE LPTTVKSSPG
   121  LGPVELAAVI AGPVCFVCIS LMLMVYICHN RTVIHHRVPN EEDPSLDRPF ISEGTTLKDL
   181  IYDMTTSGSG SGLPLLVQRT IARTIVLQES IGKGRFGEVW RGKWRGEEVA VKIFSSREER
   241  SWFREAEIYQ TVMLRHENIL GFIAADNKDN GTWTQLWLVS DYHEHGSLFD YLNRYTVTVE
   301  GMIKLALSTA SGLAHLHMEI VGTQGKPAIA HRDLKSKNIL VKKNGTCCIA DLGLAVRHDS
   361  ATDTIDIAPN HRVGTKRYMA PEVLDDSINM KHFESFKRAD IYAMGLVFWE IARRCSIGGI
   421  HEDYQLPYYD LVPSDPSVEE MRKVVCEQKL RPNIPNRWQS CEALRVMAKI MRECWYANGA
   481  ARLTALRIKK TLSQLSQQEG IKM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGFBR1 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
45 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 45 nTPM
  • smooth muscle: 30 nTPM
  • bone marrow: 29 nTPM
  • blood vessel: 27 nTPM
  • urinary bladder: 21 nTPM
  • kidney: 21 nTPM

Single-cell type

  • microglia: 420 nCPM
  • renal collecting duct principal cells: 289 nCPM
  • neutrophils: 231 nCPM
  • neutrophil progenitors: 220 nCPM
  • early spermatids: 173 nCPM
  • pdcs: 168 nCPM

Immune cell

  • basophil: 15 nTPM
  • eosinophil: 9.3 nTPM
  • gdT-cell: 7.2 nTPM
  • MAIT T-cell: 6.3 nTPM
  • naive CD8 T-cell: 5.7 nTPM
  • memory CD8 T-cell: 5.1 nTPM

Brain region

  • white matter: 58 nTPM
  • medulla oblongata: 42 nTPM
  • spinal cord: 40 nTPM
  • thalamus: 37 nTPM
  • pons: 35 nTPM
  • midbrain: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGFBR1.

Disease | AllUniProt

Conditions TGFBR1 is implicated in, by any mechanism.

  • Loeys-Dietz syndrome 1 (LDS1) MIM:609192
  • Multiple self-healing squamous epithelioma (MSSE) MIM:132800

Disease | GeneticClinVar

111 pathogenic / likely-pathogenic of 1,217 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.38
gnomAD pLI
0.85
gnomAD missense Z
2.79
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 TGFBR1 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 TGFBR1 as an antibody target. Whether an autoantibody or antibody against TGFBR1 could matter depends on whether native TGFBR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TGFBR1 is annotated at the cell surface, where native TGFBR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TGFBR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TGFBR1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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