Seroatlas · Human Serome Atlas

ACVRL1

Activin receptor type-1-like

Also known as: ACVL1_HUMAN, ACVRLK1, ALK1, HHT, HHT2, ORW2

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

Protein identityUniProt · HPA

UniProt accession
P37023
Gene
ACVRL1
Ensembl
ENSG00000139567
Chromosome
12
Canonical length
503 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

503 residues, UniProt reviewed canonical sequence.

>P37023|ACVRL1
     1  MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG
    61  RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA
   121  LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS
   181  DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF
   241  RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL
   301  RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD
   361  YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED
   421  YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL
   481  TALRIKKTLQ KISNSPEKPK VIQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACVRL1 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)
0.36
Highest tissue expression
83 nTPM

Expression across tissuesHPA

Tissue

  • lung: 83 nTPM
  • placenta: 79 nTPM
  • adipose tissue: 43 nTPM
  • colon: 37 nTPM
  • heart muscle: 35 nTPM
  • breast: 34 nTPM

Single-cell type

  • colonocytes: 121 nCPM
  • vascular endothelial cells: 111 nCPM
  • kupffer cells: 83 nCPM
  • lymphatic endothelial cells: 70 nCPM
  • extravillous trophoblasts: 54 nCPM
  • fibroblasts: 53 nCPM

Immune cell

  • myeloid DC: 2.1 nTPM
  • classical monocyte: 1.5 nTPM
  • total PBMC: 0.3 nTPM
  • basophil: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • thalamus: 33 nTPM
  • pons: 26 nTPM
  • medulla oblongata: 23 nTPM
  • amygdala: 22 nTPM
  • midbrain: 21 nTPM
  • cerebellum: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACVRL1.

Disease | AllUniProt

Conditions ACVRL1 is implicated in, by any mechanism.

  • Telangiectasia, hereditary hemorrhagic, 2 (HHT2) MIM:600376

Disease | GeneticClinVar

556 pathogenic / likely-pathogenic of 1,235 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)
0.69
gnomAD pLI
0
gnomAD missense Z
2.45
DepMap mean gene effect
-0.01
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 ACVRL1 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 ACVRL1 as an antibody target. Whether an autoantibody or antibody against ACVRL1 could matter depends on whether native ACVRL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACVRL1 is annotated at the cell surface, where native ACVRL1 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 ACVRL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACVRL1. 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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