Details for: ACVR1

Gene ID: 90

Symbol: ACVR1

Ensembl ID: ENSG00000115170

Description: activin A receptor type 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.22
    Marker Score: 1,323
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.65
    Marker Score: 4,709
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.62
    Marker Score: 6,795
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.59
    Marker Score: 3,735
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.32
    Marker Score: 5,390
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.32
    Marker Score: 2,679
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.29
    Marker Score: 2,840
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.29
    Marker Score: 1,481
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.26
    Marker Score: 19,685
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.23
    Marker Score: 2,365
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.2
    Marker Score: 17,952
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.2
    Marker Score: 350
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.19
    Marker Score: 7,653
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.18
    Marker Score: 25,255
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.11
    Marker Score: 11,474
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.11
    Marker Score: 4,771
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.1
    Marker Score: 40,681
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.07
    Marker Score: 1,443
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.06
    Marker Score: 4,082
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.05
    Marker Score: 3,726
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.03
    Marker Score: 574
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.01
    Marker Score: 5,422
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,765
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,989
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.99
    Marker Score: 285
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.98
    Marker Score: 8,458
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.98
    Marker Score: 1,086
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,402
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.98
    Marker Score: 1,180
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.97
    Marker Score: 481
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.97
    Marker Score: 303
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.97
    Marker Score: 1,042
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 491
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.95
    Marker Score: 495
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 446
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.94
    Marker Score: 497
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.93
    Marker Score: 299
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.91
    Marker Score: 5,467
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,724
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.91
    Marker Score: 545
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.91
    Marker Score: 2,967
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.88
    Marker Score: 500
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5,011
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 313
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.87
    Marker Score: 1,339
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.86
    Marker Score: 273
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.86
    Marker Score: 312
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.84
    Marker Score: 51,888
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.83
    Marker Score: 6,372
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.83
    Marker Score: 31,417
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.82
    Marker Score: 18,234
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.81
    Marker Score: 474
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.8
    Marker Score: 7,639
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.79
    Marker Score: 753
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.78
    Marker Score: 1,964
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,262
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.77
    Marker Score: 431
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 587
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.76
    Marker Score: 286
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.76
    Marker Score: 582
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.75
    Marker Score: 3,132
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.75
    Marker Score: 254
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 383
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.72
    Marker Score: 270
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.72
    Marker Score: 712
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.71
    Marker Score: 1,009
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.71
    Marker Score: 2,951
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.7
    Marker Score: 393
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.69
    Marker Score: 11,159
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 633
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.69
    Marker Score: 13,768
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.69
    Marker Score: 697
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.69
    Marker Score: 327
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.68
    Marker Score: 157
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.68
    Marker Score: 22,992
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.66
    Marker Score: 2,361
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.66
    Marker Score: 319
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.65
    Marker Score: 410
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.64
    Marker Score: 204
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.64
    Marker Score: 794
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.63
    Marker Score: 1,059
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.62
    Marker Score: 745
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.61
    Marker Score: 173
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.61
    Marker Score: 254
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.6
    Marker Score: 533
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.6
    Marker Score: 298
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.6
    Marker Score: 415
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.6
    Marker Score: 393
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.6
    Marker Score: 517
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.59
    Marker Score: 574
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.57
    Marker Score: 610
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.57
    Marker Score: 147
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.56
    Marker Score: 329
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.56
    Marker Score: 303
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.56
    Marker Score: 195
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.56
    Marker Score: 764

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Transmembrane Receptor**: ACVR1 is a transmembrane receptor, consisting of an extracellular ligand-binding domain, a transmembrane domain, and an intracellular tyrosine kinase domain. 2. **Serine/Threonine Kinase**: The intracellular domain of ACVR1 possesses serine/threonine kinase activity, allowing it to phosphorylate and activate downstream targets. 3. **Activin Receptor**: ACVR1 is an activin receptor, specifically type I, which is activated by the binding of activin A. 4. **TGF-β Superfamily**: ACVR1 is part of the TGF-β superfamily, a group of cytokines that regulate various cellular processes, including cell growth, differentiation, and apoptosis. **Pathways and Functions** 1. **Activin Signaling Pathway**: The ACVR1 gene is involved in the activin signaling pathway, which regulates cell growth, differentiation, and apoptosis in various cell types. 2. **Cardiac Development**: ACVR1 plays a crucial role in cardiac development, particularly in the morphogenesis of the heart tube, atrioventricular valve, and endocardial cushion. 3. **Neuronal Development**: ACVR1 is involved in neuronal development, regulating the fate commitment of cardiac muscle cells and the migration of neural crest cells. 4. **Wound Healing**: ACVR1 is also involved in wound healing, regulating the migration and differentiation of fibroblasts and endothelial cells. 5. **Inflammation**: ACVR1 is involved in the regulation of acute inflammatory responses, particularly in the context of TGF-β signaling. **Clinical Significance** 1. **Cardiac Abnormalities**: Mutations in the ACVR1 gene have been associated with cardiac abnormalities, including atrioventricular septal defects and cardiac muscle cell differentiation disorders. 2. **Neurological Disorders**: ACVR1 has been implicated in various neurological disorders, including autism spectrum disorder, schizophrenia, and bipolar disorder. 3. **Cancer**: ACVR1 is involved in the regulation of cell migration and invasion in various cancers, including breast, lung, and colon cancer. 4. **Fibrosis**: ACVR1 is involved in the regulation of fibrosis in various tissues, including the liver, kidney, and lung. In conclusion, the ACVR1 gene plays a crucial role in various cellular processes, including cell signaling, differentiation, and development. Its dysregulation has been implicated in various clinical disorders, highlighting the importance of further research into the mechanisms of ACVR1 signaling and its role in human disease.

Genular Protein ID: 2156630960

Symbol: ACVR1_HUMAN

Name: Activin receptor type-1

UniProtKB Accession Codes:

Q04771

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 2 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EC 2 EMBL 3 EPD 1 Ensembl 15 EvolutionaryTrace 1 ExpressionAtlas 1 GO 60 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 81 PDBsum 76 PIR 1 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 9 Rhea 6 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8389764

Title: A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor.

PubMed ID: 8389764

DOI: 10.1016/s0021-9258(18)31447-9

PubMed ID: 8397373

Title: Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.

PubMed ID: 8397373

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8555189

Title: Interaction of transforming growth factor beta receptors with apolipoprotein J/clusterin.

PubMed ID: 8555189

DOI: 10.1021/bi951880a

PubMed ID: 9748228

Title: Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2.

PubMed ID: 9748228

DOI: 10.1074/jbc.273.40.25628

PubMed ID: 17911401

Title: Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor.

PubMed ID: 17911401

DOI: 10.1677/joe-07-0281

PubMed ID: 18070108

Title: Type I receptor binding of bone morphogenetic protein 6 is dependent on N-glycosylation of the ligand.

PubMed ID: 18070108

DOI: 10.1111/j.1742-4658.2007.06187.x

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 20628059

Title: TGFbeta/BMP type I receptors ALK1 and ALK2 are essential for BMP9-induced osteogenic signaling in mesenchymal stem cells.

PubMed ID: 20628059

DOI: 10.1074/jbc.m110.130518

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 22484487

Title: Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning.

PubMed ID: 22484487

DOI: 10.1038/ncb2473

PubMed ID: 25354296

Title: Mutant activin-like kinase 2 in fibrodysplasia ossificans progressiva are activated via T203 by BMP type II receptors.

PubMed ID: 25354296

DOI: 10.1210/me.2014-1301

PubMed ID: 31800957

Title: Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3.

PubMed ID: 31800957

DOI: 10.1182/blood.2019002620

PubMed ID: 22977237

Title: Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.

PubMed ID: 22977237

DOI: 10.1074/jbc.m112.365932

PubMed ID: 16642017

Title: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

PubMed ID: 16642017

DOI: 10.1038/ng1783

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19085907

Title: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PubMed ID: 19085907

DOI: 10.1002/humu.20868

PubMed ID: 19330033

Title: Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.

PubMed ID: 19330033

DOI: 10.1371/journal.pone.0005005

Sequence Information:

  • Length: 509
  • Mass: 57153
  • Checksum: E2B0F051D19DD052
  • Sequence:
    • MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN 
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF 
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL 
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR 
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL 
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM 
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS 
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ 
NPSARLTALR IKKTLTKIDN SLDKLKTDC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.