Details for: ACVR1

Gene ID: 90

Symbol: ACVR1

Ensembl ID: ENSG00000115170

Description: activin A receptor type 1

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 181.3620
    Cell Significance Index: -28.2100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 109.7604
    Cell Significance Index: -27.8400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 61.6365
    Cell Significance Index: -29.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.8800
    Cell Significance Index: -28.2100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.7786
    Cell Significance Index: -23.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.5493
    Cell Significance Index: -28.2600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.1413
    Cell Significance Index: -28.1800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.4560
    Cell Significance Index: 63.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.1976
    Cell Significance Index: 147.7700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7374
    Cell Significance Index: 344.8000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.0874
    Cell Significance Index: 31.0300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0692
    Cell Significance Index: 82.0500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.0514
    Cell Significance Index: 20.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0422
    Cell Significance Index: 209.0700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.8780
    Cell Significance Index: 14.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7476
    Cell Significance Index: 73.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7377
    Cell Significance Index: 85.9700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6966
    Cell Significance Index: 26.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6635
    Cell Significance Index: 29.3500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6529
    Cell Significance Index: 589.5100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6392
    Cell Significance Index: 229.2600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.5986
    Cell Significance Index: 12.8000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.5934
    Cell Significance Index: 9.5200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5789
    Cell Significance Index: 35.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5156
    Cell Significance Index: 28.9300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4420
    Cell Significance Index: 6.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3795
    Cell Significance Index: 41.2800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3627
    Cell Significance Index: 59.0000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3475
    Cell Significance Index: 240.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2975
    Cell Significance Index: 17.8600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2431
    Cell Significance Index: 33.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2366
    Cell Significance Index: 445.5000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2189
    Cell Significance Index: 5.2500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1729
    Cell Significance Index: 22.1600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1392
    Cell Significance Index: 61.5400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1343
    Cell Significance Index: 9.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1163
    Cell Significance Index: 73.8700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1129
    Cell Significance Index: 20.3500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1019
    Cell Significance Index: 1.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0822
    Cell Significance Index: 15.6500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0743
    Cell Significance Index: 40.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0726
    Cell Significance Index: 8.9300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0678
    Cell Significance Index: 30.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0675
    Cell Significance Index: 124.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0615
    Cell Significance Index: 94.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0526
    Cell Significance Index: 1.1400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0493
    Cell Significance Index: 1.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0221
    Cell Significance Index: 1.0300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.0193
    Cell Significance Index: 0.4700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0136
    Cell Significance Index: 18.4500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0131
    Cell Significance Index: 0.4600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0093
    Cell Significance Index: 1.3500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0084
    Cell Significance Index: 1.4400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0073
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0086
    Cell Significance Index: -5.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0109
    Cell Significance Index: -0.2900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0115
    Cell Significance Index: -8.5000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0224
    Cell Significance Index: -1.6700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0280
    Cell Significance Index: -15.7900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0282
    Cell Significance Index: -20.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0295
    Cell Significance Index: -22.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0383
    Cell Significance Index: -1.0700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0463
    Cell Significance Index: -2.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0713
    Cell Significance Index: -15.0100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0815
    Cell Significance Index: -23.4500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0986
    Cell Significance Index: -5.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1081
    Cell Significance Index: -4.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1093
    Cell Significance Index: -14.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1181
    Cell Significance Index: -12.0600
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.1224
    Cell Significance Index: -1.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1292
    Cell Significance Index: -6.0700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1364
    Cell Significance Index: -3.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1598
    Cell Significance Index: -16.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1776
    Cell Significance Index: -20.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1876
    Cell Significance Index: -13.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2402
    Cell Significance Index: -28.3300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2456
    Cell Significance Index: -28.0400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2618
    Cell Significance Index: -5.4300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2636
    Cell Significance Index: -3.8900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2797
    Cell Significance Index: -4.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2827
    Cell Significance Index: -17.3300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3008
    Cell Significance Index: -4.3200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3245
    Cell Significance Index: -6.9100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3311
    Cell Significance Index: -10.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3347
    Cell Significance Index: -26.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3590
    Cell Significance Index: -23.1600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3674
    Cell Significance Index: -19.1400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3788
    Cell Significance Index: -8.0400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4054
    Cell Significance Index: -5.8100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4280
    Cell Significance Index: -10.7000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4282
    Cell Significance Index: -14.8800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4311
    Cell Significance Index: -6.8400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4413
    Cell Significance Index: -27.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4512
    Cell Significance Index: -12.2800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4823
    Cell Significance Index: -15.7900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5058
    Cell Significance Index: -16.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5183
    Cell Significance Index: -27.2200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.5335
    Cell Significance Index: -4.3500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5920
    Cell Significance Index: -12.7900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.6038
    Cell Significance Index: -16.1800

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:

Database IDs:

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.