Details for: ACVRL1

Gene ID: 94

Symbol: ACVRL1

Ensembl ID: ENSG00000139567

Description: activin A receptor like 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: embryonic stem cell (CL0002322)
    Fold Change: 40.5634
    Cell Significance Index: -16.7100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.5378
    Cell Significance Index: -15.2500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.0672
    Cell Significance Index: -15.3400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 7.7532
    Cell Significance Index: 403.8600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.6969
    Cell Significance Index: -17.9400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.9913
    Cell Significance Index: -15.7500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.3299
    Cell Significance Index: 37.3800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.8353
    Cell Significance Index: 20.8500
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 1.2181
    Cell Significance Index: 4.5400
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: 0.9998
    Cell Significance Index: 13.6900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.9815
    Cell Significance Index: 6.6500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.6771
    Cell Significance Index: 11.9700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6726
    Cell Significance Index: 607.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6375
    Cell Significance Index: 63.0600
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.5718
    Cell Significance Index: 3.5800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.5465
    Cell Significance Index: 15.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4612
    Cell Significance Index: 75.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4372
    Cell Significance Index: 19.8200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4261
    Cell Significance Index: 46.3500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.3620
    Cell Significance Index: 5.6000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3395
    Cell Significance Index: 43.5200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2915
    Cell Significance Index: 5.6900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.2896
    Cell Significance Index: 1.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2271
    Cell Significance Index: 15.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0951
    Cell Significance Index: 18.1000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0595
    Cell Significance Index: 3.0100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.0549
    Cell Significance Index: 0.7900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0471
    Cell Significance Index: 29.4000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0066
    Cell Significance Index: 0.1900
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0034
    Cell Significance Index: -0.1200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0048
    Cell Significance Index: -0.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0069
    Cell Significance Index: -12.9100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0086
    Cell Significance Index: -1.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0097
    Cell Significance Index: -7.2200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0103
    Cell Significance Index: -1.4200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0103
    Cell Significance Index: -18.9100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0124
    Cell Significance Index: -19.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0140
    Cell Significance Index: -19.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0169
    Cell Significance Index: -9.5100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0197
    Cell Significance Index: -14.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0223
    Cell Significance Index: -16.3800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0254
    Cell Significance Index: -16.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0262
    Cell Significance Index: -0.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0263
    Cell Significance Index: -14.3700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0376
    Cell Significance Index: -17.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0387
    Cell Significance Index: -6.9700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0410
    Cell Significance Index: -8.6300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0423
    Cell Significance Index: -15.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0494
    Cell Significance Index: -8.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0512
    Cell Significance Index: -10.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0521
    Cell Significance Index: -14.9900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0531
    Cell Significance Index: -1.1500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0580
    Cell Significance Index: -0.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0653
    Cell Significance Index: -1.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0775
    Cell Significance Index: -15.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1012
    Cell Significance Index: -12.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1073
    Cell Significance Index: -15.6000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1134
    Cell Significance Index: -12.9400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1198
    Cell Significance Index: -12.2400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1282
    Cell Significance Index: -7.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1299
    Cell Significance Index: -14.8900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1345
    Cell Significance Index: -17.3800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1373
    Cell Significance Index: -1.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1514
    Cell Significance Index: -15.7600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1522
    Cell Significance Index: -17.9500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1715
    Cell Significance Index: -2.5700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1778
    Cell Significance Index: -7.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1792
    Cell Significance Index: -13.7500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1964
    Cell Significance Index: -4.1100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2093
    Cell Significance Index: -16.5800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2096
    Cell Significance Index: -9.8500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2181
    Cell Significance Index: -10.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2336
    Cell Significance Index: -17.4100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2516
    Cell Significance Index: -16.9200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2589
    Cell Significance Index: -10.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2703
    Cell Significance Index: -17.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2849
    Cell Significance Index: -17.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3213
    Cell Significance Index: -18.0300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3457
    Cell Significance Index: -17.9600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3784
    Cell Significance Index: -7.8500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3837
    Cell Significance Index: -16.9700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4135
    Cell Significance Index: -10.6300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4434
    Cell Significance Index: -11.8600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4479
    Cell Significance Index: -16.9600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4556
    Cell Significance Index: -15.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4568
    Cell Significance Index: -12.2400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4625
    Cell Significance Index: -16.0700
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.4678
    Cell Significance Index: -5.7500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4772
    Cell Significance Index: -7.5700
  • Cell Name: endothelial stalk cell (CL0002671)
    Fold Change: -0.4832
    Cell Significance Index: -5.4200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4853
    Cell Significance Index: -15.8900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.4938
    Cell Significance Index: -7.1700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.4973
    Cell Significance Index: -10.1200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4996
    Cell Significance Index: -18.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5027
    Cell Significance Index: -14.0500
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.5057
    Cell Significance Index: -4.8800
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.5170
    Cell Significance Index: -7.1000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5206
    Cell Significance Index: -16.5800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.5282
    Cell Significance Index: -14.1100

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** ACVRL1 is a type I receptor for TGF-β, which is a key regulator of cellular processes. The receptor consists of two transmembrane domains and a cytoplasmic domain that interacts with Smad proteins. ACVRL1 is highly homologous to other type I receptors, such as TGF-β receptors, and shares similar structural features. The gene is expressed in various tissues, including the lung, liver, and kidney, and is involved in several developmental and pathological processes. ACVRL1 has been implicated in the regulation of angiogenesis, wound healing, and cardiovascular diseases. **Pathways and Functions** ACVRL1 is involved in several signaling pathways, including: 1. **TGF-β signaling pathway**: ACVRL1 mediates the signaling between TGF-β and its receptors, leading to the activation of downstream Smad proteins. 2. **Angiogenesis**: ACVRL1 is involved in the formation of new blood vessels from pre-existing ones, regulating endothelial cell proliferation, migration, and differentiation. 3. **Wound healing**: ACVRL1 plays a role in the regulation of cell growth, migration, and differentiation during wound healing. 4. **Cardiovascular diseases**: ACVRL1 has been implicated in the regulation of blood pressure, cardiovascular remodeling, and atherosclerosis. **Clinical Significance** Dysregulation of ACVRL1 has been implicated in various diseases, including: 1. **Angiogenesis-related disorders**: ACVRL1's role in angiogenesis makes it a potential target for the treatment of diseases such as cancer, atherosclerosis, and diabetic retinopathy. 2. **Cardiovascular diseases**: ACVRL1's involvement in cardiovascular remodeling and blood pressure regulation makes it a potential target for the treatment of cardiovascular diseases. 3. **Wound healing disorders**: ACVRL1's role in wound healing makes it a potential target for the treatment of chronic wounds and skin disorders. 4. **Cancer**: ACVRL1's involvement in angiogenesis and tumor growth makes it a potential target for the treatment of cancer. In conclusion, ACVRL1 is a crucial component of the TGF-β signaling pathway, involved in various cellular processes, including angiogenesis, wound healing, and cardiovascular diseases. Its dysregulation has been implicated in various diseases, making it a potential target for the treatment of these conditions.

Genular Protein ID: 336944737

Symbol: ACVL1_HUMAN

Name: Activin receptor-like kinase 1

UniProtKB Accession Codes:

Database IDs:

Citations:

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: 8242742

Title: Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.

PubMed ID: 8242742

DOI: 10.1016/0092-8674(93)90488-c

PubMed ID: 9245985

Title: The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

PubMed ID: 9245985

DOI: 10.1086/513903

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 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: 22799562

Title: Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.

PubMed ID: 22799562

DOI: 10.1021/bi300942x

PubMed ID: 22718755

Title: Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

PubMed ID: 22718755

DOI: 10.1074/jbc.m112.377960

PubMed ID: 8640225

Title: Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

PubMed ID: 8640225

DOI: 10.1038/ng0696-189

PubMed ID: 10694922

Title: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia.

PubMed ID: 10694922

DOI: 10.1002/(sici)1098-1004(1998)12:2<137::aid-humu16>3.0.co;2-j

PubMed ID: 10767348

Title: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

PubMed ID: 10767348

DOI: 10.1093/hmg/9.8.1227

PubMed ID: 11170071

Title: Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.

PubMed ID: 11170071

DOI: 10.1002/1096-8628(20010201)98:4<298::aid-ajmg1093>3.0.co;2-k

PubMed ID: 11484689

Title: Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

PubMed ID: 11484689

DOI: 10.1056/nejm200108023450503

PubMed ID: 14684682

Title: Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

PubMed ID: 14684682

DOI: 10.1136/jmg.40.12.865

PubMed ID: 15024723

Title: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

PubMed ID: 15024723

DOI: 10.1002/humu.20017

PubMed ID: 15712270

Title: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

PubMed ID: 15712270

DOI: 10.1002/humu.9311

PubMed ID: 16752392

Title: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

PubMed ID: 16752392

DOI: 10.1002/humu.20342

PubMed ID: 16525724

Title: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

PubMed ID: 16525724

PubMed ID: 20414677

Title: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

PubMed ID: 20414677

DOI: 10.1007/s00439-010-0825-4

PubMed ID: 24936649

Title: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

PubMed ID: 24936649

DOI: 10.1371/journal.pone.0100261

PubMed ID: 26176610

Title: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia.

PubMed ID: 26176610

DOI: 10.1371/journal.pone.0132111

Sequence Information:

  • Length: 503
  • Mass: 56124
  • Checksum: 074522AA802325DD
  • Sequence:
  • MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG 
    RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA 
    LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS 
    DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF 
    RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL 
    RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD 
    YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED 
    YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL 
    TALRIKKTLQ KISNSPEKPK VIQ

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.