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]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    94 (ACVRL1)
 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 DUF4381
Other DBs
NCBI-GeneID: 94
NCBI-ProteinID: NP_000011
OMIM: 601284
HGNC: 175
Ensembl: ENSG00000139567
UniProt: P37023 A0A0S2Z310
Structure
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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (3)   
   KEGG NETWORK (3)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Drug (2)   
   KEGG DRUG (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (15)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (36)   
   RefSeq(nuc) (12)   
   GenBank (12)   
   EMBL (12)   
3D Structure (7)   
   PDB (7)   
Protein domain (6)   
   Pfam (6)   
All databases (97)   

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