Details for: ACVRL1

Gene ID: 94

Symbol: ACVRL1

Ensembl ID: ENSG00000139567

Description: activin A receptor like type 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 3.83
    Marker Score: 9746
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.69
    Marker Score: 32421
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 3.65
    Marker Score: 5281
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 2.25
    Marker Score: 1939
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.95
    Marker Score: 1834
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.93
    Marker Score: 1099
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.78
    Marker Score: 2580.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.39
    Marker Score: 831
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.36
    Marker Score: 2723
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 1.17
    Marker Score: 273
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 1.11
    Marker Score: 1122
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.1
    Marker Score: 989
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251786
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.04
    Marker Score: 936
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.03
    Marker Score: 2104
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 786
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.02
    Marker Score: 26118
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1
    Marker Score: 313
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71804
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48029
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.99
    Marker Score: 239
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.98
    Marker Score: 646
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.98
    Marker Score: 977.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 502
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 455
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.94
    Marker Score: 1010
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5283
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 366
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.91
    Marker Score: 218
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 0.87
    Marker Score: 222
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.87
    Marker Score: 186
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.85
    Marker Score: 2672
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.82
    Marker Score: 27909
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.8
    Marker Score: 185
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.8
    Marker Score: 187
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.79
    Marker Score: 328
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1252
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.76
    Marker Score: 1286
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.75
    Marker Score: 1430
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.75
    Marker Score: 473
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 680
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.72
    Marker Score: 4356
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3013.5
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.7
    Marker Score: 273
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.68
    Marker Score: 1784
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.68
    Marker Score: 167
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.67
    Marker Score: 664
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 401
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.59
    Marker Score: 9268
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.59
    Marker Score: 3581
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.58
    Marker Score: 154
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.58
    Marker Score: 561
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.55
    Marker Score: 264
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.54
    Marker Score: 2314
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.53
    Marker Score: 120
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.52
    Marker Score: 1196
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.5
    Marker Score: 215
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.5
    Marker Score: 311
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.5
    Marker Score: 612
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.48
    Marker Score: 5440
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.48
    Marker Score: 544
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.47
    Marker Score: 195
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.46
    Marker Score: 100
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.45
    Marker Score: 693
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.44
    Marker Score: 853
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.44
    Marker Score: 161
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.43
    Marker Score: 686
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.42
    Marker Score: 136
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.42
    Marker Score: 5550
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.41
    Marker Score: 476
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.4
    Marker Score: 165
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.39
    Marker Score: 543
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.39
    Marker Score: 252
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.39
    Marker Score: 927
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.39
    Marker Score: 264
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.37
    Marker Score: 185
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.37
    Marker Score: 159
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.36
    Marker Score: 364
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.36
    Marker Score: 384
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.36
    Marker Score: 306
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.36
    Marker Score: 100
  • Cell Name: vasa recta descending limb cell (CL1001285)
    Fold Change: 0.36
    Marker Score: 98
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.35
    Marker Score: 148
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.35
    Marker Score: 5541
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.34
    Marker Score: 143
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.32
    Marker Score: 84
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.32
    Marker Score: 93
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.32
    Marker Score: 306
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.32
    Marker Score: 186
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.31
    Marker Score: 1504
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.31
    Marker Score: 99

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Other Information

**Key characteristics:** * ACVRL1 is a single-pass transmembrane protein with a molecular weight of approximately 130 kDa. * It is a member of the activin receptor family, which is involved in various cellular processes, including cell migration, proliferation, and survival. * ACVRL1 is a key regulator of angiogenesis, the process by which new blood vessels form. * It is also involved in cell migration, cell cycle regulation, and inflammation. **Pathways and functions:** * ACVRL1 signaling is initiated by the binding of activin, a protein that is produced by cells in the endothelium. * Activin binding to ACVRL1 activates the receptor, which leads to the phosphorylation of a number of downstream targets. * These targets include Smad proteins, which are key regulators of cell growth and differentiation. * Phosphorylation of Smad proteins by ACVRL1 inhibits their interaction with other proteins, which leads to the inhibition of cell growth and migration. * This results in the inhibition of angiogenesis, cell migration, and inflammation. **Clinical significance:** * Mutations in the ACVRL1 gene have been linked to a number of human diseases, including pulmonary hypertension, heart failure, and cancer. * In these diseases, ACVRL1 signaling is often dysregulated, leading to the formation of blood clots and the development of tumors. * Therefore, ACVRL1 is a promising target for the treatment of these diseases. **Additional notes:** * ACVRL1 is also known as ITGA15. * It is expressed in high levels in the lungs, blood vessels, and skin. * It is a highly conserved protein, with similar sequences found in organisms from different species.

Genular Protein ID: 336944737

Symbol: ACVL1_HUMAN

Name: Serine/threonine-protein kinase receptor R3

UniProtKB Accession Codes:

P37023 A6NGA8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 2 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 3 EMBL 12 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 68 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 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 7 PIR 1 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 6 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.