Seroatlas · Human Serome Atlas

ACVR1

Activin receptor type-1

Also known as: ACVR1_HUMAN, ACVR1A, ACVRLK2, ALK2, SKR1

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

Protein identityUniProt · HPA

UniProt accession: Q04771
Gene: ACVR1
Ensembl: ENSG00000115170
Chromosome: 2
Canonical length: 509 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

509 residues, UniProt reviewed canonical sequence.

>Q04771|ACVR1
     1  MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
    61  DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
   121  HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
   181  ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
   241  DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
   301  DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
   361  HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
   421  NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
   481  NPSARLTALR IKKTLTKIDN SLDKLKTDC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACVR1 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): 0.34
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 29 nTPM
smooth muscle: 27 nTPM
cervix: 21 nTPM
ovary: 18 nTPM
endometrium: 16 nTPM
skeletal muscle: 16 nTPM

Single-cell type

proximal tubule cells: 223 nCPM
myonuclei: 202 nCPM
salivary ionocytes: 202 nCPM
bergmann glia: 158 nCPM
choroid plexus epithelial cells: 153 nCPM
pancreatic acinar cells: 140 nCPM

Immune cell

T-reg: 5.6 nTPM
memory CD4 T-cell: 4.7 nTPM
basophil: 2.5 nTPM
classical monocyte: 1.5 nTPM
naive CD4 T-cell: 1.4 nTPM
non-classical monocyte: 1.2 nTPM

Brain region

hippocampal formation: 46 nTPM
choroid plexus: 30 nTPM
amygdala: 29 nTPM
thalamus: 28 nTPM
cerebral cortex: 26 nTPM
pons: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACVR1.

Disease | AllUniProt

Conditions ACVR1 is implicated in, by any mechanism.

Fibrodysplasia ossificans progressiva (FOP) MIM:135100

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 439 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Progressive myositis ossificans
Diffuse midline glioma, H3 K27M-mutant
Ependymoma
Inborn genetic diseases
ACVR1-related disorder

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): 0.45
gnomAD pLI: 0.33
gnomAD missense Z: 2.34
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 ACVR1 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 ACVR1 as an antibody target. Whether an autoantibody or antibody against ACVR1 could matter depends on whether native ACVR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACVR1 is annotated at the cell surface, where native ACVR1 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 ACVR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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