Seroatlas · Human Serome Atlas

ACVR1B

Activin receptor type-1B

Also known as: ActRIB, ACV1B_HUMAN, ACVRLK4, ALK4, SKR2

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

Protein identityUniProt · HPA

UniProt accession
P36896
Gene
ACVR1B
Ensembl
ENSG00000135503
Chromosome
12
Canonical length
505 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Vesicles,Primary cilium,Cytosol

OverviewNCBI Gene

This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

505 residues, UniProt reviewed canonical sequence.

>P36896|ACVR1B
     1  MAESAGASSF FPLVVLLLAG SGGSGPRGVQ ALLCACTSCL QANYTCETDG ACMVSIFNLD
    61  GMEHHVRTCI PKVELVPAGK PFYCLSSEDL RNTHCCYTDY CNRIDLRVPS GHLKEPEHPS
   121  MWGPVELVGI IAGPVFLLFL IIIIVFLVIN YHQRVYHNRQ RLDMEDPSCE MCLSKDKTLQ
   181  DLVYDLSTSG SGSGLPLFVQ RTVARTIVLQ EIIGKGRFGE VWRGRWRGGD VAVKIFSSRE
   241  ERSWFREAEI YQTVMLRHEN ILGFIAADNK DNGTWTQLWL VSDYHEHGSL FDYLNRYTVT
   301  IEGMIKLALS AASGLAHLHM EIVGTQGKPG IAHRDLKSKN ILVKKNGMCA IADLGLAVRH
   361  DAVTDTIDIA PNQRVGTKRY MAPEVLDETI NMKHFDSFKC ADIYALGLVY WEIARRCNSG
   421  GVHEEYQLPY YDLVPSDPSI EEMRKVVCDQ KLRPNIPNWW QSYEALRVMG KMMRECWYAN
   481  GAARLTALRI KKTLSQLSVQ EDVKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACVR1B 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
50 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 50 nTPM
  • skin: 44 nTPM
  • pancreas: 38 nTPM
  • kidney: 32 nTPM
  • salivary gland: 31 nTPM
  • liver: 29 nTPM

Single-cell type

  • distal convoluted tubule cells: 186 nCPM
  • renal connecting tubule cells: 183 nCPM
  • neutrophils: 161 nCPM
  • loop of henle epithelial cells: 128 nCPM
  • adrenal medulla cells: 128 nCPM
  • renal collecting duct principal cells: 102 nCPM

Immune cell

  • eosinophil: 3.9 nTPM
  • basophil: 2.5 nTPM
  • non-classical monocyte: 2.2 nTPM
  • intermediate monocyte: 1.8 nTPM
  • classical monocyte: 1.2 nTPM
  • neutrophil: 1 nTPM

Brain region

  • cerebral cortex: 53 nTPM
  • basal ganglia: 48 nTPM
  • white matter: 42 nTPM
  • thalamus: 39 nTPM
  • hippocampal formation: 35 nTPM
  • amygdala: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACVR1B.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 51 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)
0.17
gnomAD pLI
1
gnomAD missense Z
3.37
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 ACVR1B 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 ACVR1B as an antibody target. Whether an autoantibody or antibody against ACVR1B could matter depends on whether native ACVR1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACVR1B is annotated at the cell surface, where native ACVR1B 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 ACVR1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACVR1B. 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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