KEGG   Homo sapiens (human): 94
Entry
94                CDS       T01001                                 
Symbol
ACVRL1, ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
Name
(RefSeq) activin A receptor like type 1
  KO
K13594  activin receptor-like kinase 1 [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
Network
nt06507  TGFB signaling
  Element
N01426  BMP9/10 signaling pathway
N01462  BMP9/10 signaling pathway, BMP9/10 coreceptor
Disease
H00533  Hereditary hemorrhagic telangiectasia
H01621  Pulmonary arterial hypertension
Drug target
Ascrinvacumab: D11709
Dalantercept: D10106
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    94 (ACVRL1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     94 (ACVRL1)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   94 (ACVRL1)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase TGF_beta_GS APH Pkinase_fungal
Other DBs
NCBI-GeneID: 94
NCBI-ProteinID: NP_000011
OMIM: 601284
HGNC: 175
Ensembl: ENSG00000139567
UniProt: P37023 A0A0S2Z310
Structure
LinkDB
Position
12:51906944..51923361
AA seq 503 aa
MTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEG
RHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLA
LILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDS
DCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWF
RETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLAL
RLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSD
YLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVED
YRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPVLSGLAQMMRECWYPNPSARL
TALRIKKTLQKISNSPEKPKVIQ
NT seq 1512 nt   +upstreamnt  +downstreamnt
atgaccttgggctcccccaggaaaggccttctgatgctgctgatggccttggtgacccag
ggagaccctgtgaagccgtctcggggcccgctggtgacctgcacgtgtgagagcccacat
tgcaaggggcctacctgccggggggcctggtgcacagtagtgctggtgcgggaggagggg
aggcacccccaggaacatcggggctgcgggaacttgcacagggagctctgcagggggcgc
cccaccgagttcgtcaaccactactgctgcgacagccacctctgcaaccacaacgtgtcc
ctggtgctggaggccacccaacctccttcggagcagccgggaacagatggccagctggcc
ctgatcctgggccccgtgctggccttgctggccctggtggccctgggtgtcctgggcctg
tggcatgtccgacggaggcaggagaagcagcgtggcctgcacagcgagctgggagagtcc
agtctcatcctgaaagcatctgagcagggcgacagcatgttgggggacctcctggacagt
gactgcaccacagggagtggctcagggctccccttcctggtgcagaggacagtggcacgg
caggttgccttggtggagtgtgtgggaaaaggccgctatggcgaagtgtggcggggcttg
tggcacggtgagagtgtggccgtcaagatcttctcctcgagggatgaacagtcctggttc
cgggagactgagatctataacacagtgttgctcagacacgacaacatcctaggcttcatc
gcctcagacatgacctcccgcaactcgagcacgcagctgtggctcatcacgcactaccac
gagcacggctccctctacgactttctgcagagacagacgctggagccccatctggctctg
aggctagctgtgtccgcggcatgcggcctggcgcacctgcacgtggagatcttcggtaca
cagggcaaaccagccattgcccaccgcgacttcaagagccgcaatgtgctggtcaagagc
aacctgcagtgttgcatcgccgacctgggcctggctgtgatgcactcacagggcagcgat
tacctggacatcggcaacaacccgagagtgggcaccaagcggtacatggcacccgaggtg
ctggacgagcagatccgcacggactgctttgagtcctacaagtggactgacatctgggcc
tttggcctggtgctgtgggagattgcccgccggaccatcgtgaatggcatcgtggaggac
tatagaccacccttctatgatgtggtgcccaatgaccccagctttgaggacatgaagaag
gtggtgtgtgtggatcagcagacccccaccatccctaaccggctggctgcagacccggtc
ctctcaggcctagctcagatgatgcgggagtgctggtacccaaacccctctgcccgactc
accgcgctgcggatcaagaagacactacaaaaaattagcaacagtccagagaagcctaaa
gtgattcaatag

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