Details for: ACVRL1
Associated with
Other Information
Genular Protein ID: 336944737
Symbol: ACVL1_HUMAN
Name: Serine/threonine-protein kinase receptor R3
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
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
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
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
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
PubMed ID: 24936649
Title: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
PubMed ID: 24936649
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
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.