ACVR1C
Activin receptor type-1C
Also known as: ACV1C_HUMAN, ACVRLK7, ALK7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NER5
- Gene
- ACVR1C
- Ensembl
- ENSG00000123612
- Chromosome
- 2
- Canonical length
- 493 aa
- Protein class
- Enzymes, Predicted intracellular proteins, Predicted membrane proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
493 residues, UniProt reviewed canonical sequence.
>Q8NER5|ACVR1C
1 MTRALCSALR QALLLLAAAA ELSPGLKCVC LLCDSSNFTC QTEGACWASV MLTNGKEQVI
61 KSCVSLPELN AQVFCHSSNN VTKTECCFTD FCNNITLHLP TASPNAPKLG PMELAIIITV
121 PVCLLSIAAM LTVWACQGRQ CSYRKKKRPN VEEPLSECNL VNAGKTLKDL IYDVTASGSG
181 SGLPLLVQRT IARTIVLQEI VGKGRFGEVW HGRWCGEDVA VKIFSSRDER SWFREAEIYQ
241 TVMLRHENIL GFIAADNKDN GTWTQLWLVS EYHEQGSLYD YLNRNIVTVA GMIKLALSIA
301 SGLAHLHMEI VGTQGKPAIA HRDIKSKNIL VKKCETCAIA DLGLAVKHDS ILNTIDIPQN
361 PKVGTKRYMA PEMLDDTMNV NIFESFKRAD IYSVGLVYWE IARRCSVGGI VEEYQLPYYD
421 MVPSDPSIEE MRKVVCDQKF RPSIPNQWQS CEALRVMGRI MRECWYANGA ARLTALRIKK
481 TISQLCVKED CKALocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACVR1C 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)
- 0.32
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 29 nTPM
- breast: 6.1 nTPM
- basal ganglia: 3.9 nTPM
- colon: 3.9 nTPM
- duodenum: 3.8 nTPM
- small intestine: 3.2 nTPM
Single-cell type
- adipocytes: 362 nCPM
- adrenal medulla cells: 138 nCPM
- bergmann glia: 116 nCPM
- leydig cells: 82 nCPM
- somatotrophs: 64 nCPM
- oligodendrocytes: 43 nCPM
Immune cell
- naive CD4 T-cell: 0.6 nTPM
- memory CD4 T-cell: 0.4 nTPM
- MAIT T-cell: 0.2 nTPM
- memory CD8 T-cell: 0.2 nTPM
- naive CD8 T-cell: 0.2 nTPM
- gdT-cell: 0.1 nTPM
Brain region
- hypothalamus: 25 nTPM
- hippocampal formation: 17 nTPM
- basal ganglia: 17 nTPM
- white matter: 11 nTPM
- cerebral cortex: 11 nTPM
- amygdala: 10 nTPM
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)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.5
- DepMap mean gene effect
- 0.09
- 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
- activin receptor signaling pathway
- apoptotic nuclear changes
- apoptotic signaling pathway
- cell differentiation
- cellular response to growth factor stimulus
- insulin secretion
- lipid storage
- negative regulation of chorionic trophoblast cell proliferation
- negative regulation of insulin secretion
- negative regulation of trophoblast cell migration
- nervous system development
- nodal signaling pathway
- positive regulation of apoptotic process
- protein phosphorylation
- response to dietary excess
- response to glucose
- response to insulin
- trophectodermal cell proliferation
Molecular functions
- activin receptor activity
- activin receptor activity, type I
- ATP binding
- growth factor binding
- metal ion binding
- nodal binding
- protein serine/threonine kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ser/Thr protein kinase, TGFB receptor
- Activin types I and II receptor domain
- Protein kinase domain
- Serine-threonine/tyrosine-protein kinase, catalytic domain
- GS domain
- Serine/threonine-protein kinase, active site
- Protein kinase-like domain superfamily
- Protein kinase, ATP binding site
- Snake toxin-like superfamily
- Activin types I and II receptor domain
- Protein tyrosine and serine/threonine kinase
- Transforming growth factor beta type I GS-motif
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ACVR1C 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 ACVR1C as an antibody target. Whether an autoantibody or antibody against ACVR1C could matter depends on whether native ACVR1C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACVR1C is annotated at the cell surface, where native ACVR1C 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 ACVR1C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...