KEGG   Homo sapiens (human): 657
Entry
657               CDS       T01001                                 
Symbol
BMPR1A, 10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5
Name
(RefSeq) bone morphogenetic protein receptor type 1A
  KO
K04673  bone morphogenetic protein receptor type-1A [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06507  TGFB signaling
  Element
N01453  BMP signaling pathway
N01454  AMH signaling pathway
N01458  BMP-HAMP signaling pathway
N01461  BMP-HAMP signaling pathway, auxiliary factor
Disease
H01023  Juvenile polyposis syndrome
H01024  Hereditary mixed polyposis syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    657 (BMPR1A)
   04390 Hippo signaling pathway
    657 (BMPR1A)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    657 (BMPR1A)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    657 (BMPR1A)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    657 (BMPR1A)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    657 (BMPR1A)
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    657 (BMPR1A)
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
     657 (BMPR1A)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   657 (BMPR1A)
CD molecules [BR:hsa04090]
 Proteins
  657 (BMPR1A)
SSDB
Motif
Pfam: Pkinase PK_Tyr_Ser-Thr TGF_beta_GS Activin_recp Pkinase_fungal FTA2 Haspin_kinase
Other DBs
NCBI-GeneID: 657
NCBI-ProteinID: NP_004320
OMIM: 601299
HGNC: 1076
Ensembl: ENSG00000107779
UniProt: P36894
Structure
LinkDB
Position
10:86755763..86932844
AA seq 532 aa
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLK
CYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRR
TIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYC
KSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAH
RDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKN
HFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI
NT seq 1599 nt   +upstreamnt  +downstreamnt
atgcctcagctatacatttacatcagattattgggagcctatttgttcatcatttctcgt
gttcaaggacagaatctggatagtatgcttcatggcactgggatgaaatcagactccgac
cagaaaaagtcagaaaatggagtaaccttagcaccagaggataccttgccttttttaaag
tgctattgctcagggcactgtccagatgatgctattaataacacatgcataactaatgga
cattgctttgccatcatagaagaagatgaccagggagaaaccacattagcttcagggtgt
atgaaatatgaaggatctgattttcagtgcaaagattctccaaaagcccagctacgccgg
acaatagaatgttgtcggaccaatttatgtaaccagtatttgcaacccacactgccccct
gttgtcataggtccgttttttgatggcagcattcgatggctggttttgctcatttctatg
gctgtctgcataattgctatgatcatcttctccagctgcttttgttacaaacattattgc
aagagcatctcaagcagacgtcgttacaatcgtgatttggaacaggatgaagcatttatt
ccagttggagaatcactaaaagaccttattgaccagtcacaaagttctggtagtgggtct
ggactacctttattggttcagcgaactattgccaaacagattcagatggtccggcaagtt
ggtaaaggccgatatggagaagtatggatgggcaaatggcgtggcgaaaaagtggcggtg
aaagtattctttaccactgaagaagccagctggtttcgagaaacagaaatctaccaaact
gtgctaatgcgccatgaaaacatacttggtttcatagcggcagacattaaaggtacaggt
tcctggactcagctctatttgattactgattaccatgaaaatggatctctctatgacttc
ctgaaatgtgctacactggacaccagagccctgcttaaattggcttattcagctgcctgt
ggtctgtgccacctgcacacagaaatttatggcacccaaggaaagcccgcaattgctcat
cgagacctaaagagcaaaaacatcctcatcaagaaaaatgggagttgctgcattgctgac
ctgggccttgctgttaaattcaacagtgacacaaatgaagttgatgtgcccttgaatacc
agggtgggcaccaaacgctacatggctcccgaagtgctggacgaaagcctgaacaaaaac
cacttccagccctacatcatggctgacatctacagcttcggcctaatcatttgggagatg
gctcgtcgttgtatcacaggagggatcgtggaagaataccaattgccatattacaacatg
gtaccgagtgatccgtcatacgaagatatgcgtgaggttgtgtgtgtcaaacgtttgcgg
ccaattgtgtctaatcggtggaacagtgatgaatgtctacgagcagttttgaagctaatg
tcagaatgctgggcccacaatccagcctccagactcacagcattgagaattaagaagacg
cttgccaagatggttgaatcccaagatgtaaaaatctga

KEGG   Homo sapiens (human): 658
Entry
658               CDS       T01001                                 
Symbol
BMPR1B, ALK-6, ALK6, AMD3, AMDD, BDA1D, BDA2, CDw293
Name
(RefSeq) bone morphogenetic protein receptor type 1B
  KO
K13578  bone morphogenetic protein receptor type-1B [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04360  Axon guidance
hsa04390  Hippo signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06507  TGFB signaling
  Element
N01453  BMP signaling pathway
N01454  AMH signaling pathway
N01455  BMP15 signaling pathway
Disease
H00468  Acromesomelic dysplasia, Demirhan type
H00482  Brachydactyly
H02543  Acromesomelic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    658 (BMPR1B)
   04390 Hippo signaling pathway
    658 (BMPR1B)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    658 (BMPR1B)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    658 (BMPR1B)
 09150 Organismal Systems
  09158 Development and regeneration
   04360 Axon guidance
    658 (BMPR1B)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    658 (BMPR1B)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    658 (BMPR1B)
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    658 (BMPR1B)
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
     658 (BMPR1B)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   658 (BMPR1B)
CD molecules [BR:hsa04090]
 Proteins
  658 (BMPR1B)
SSDB
Motif
Pfam: PK_Tyr_Ser-Thr Pkinase Activin_recp TGF_beta_GS FTA2 Haspin_kinase
Other DBs
NCBI-GeneID: 658
NCBI-ProteinID: NP_001194
OMIM: 603248
HGNC: 1077
Ensembl: ENSG00000138696
UniProt: O00238
Structure
LinkDB
Position
4:94757955..95158450
AA seq 502 aa
MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED
DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD
GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI
EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS
WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD
TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV
EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS
RLTALRVKKTLAKMSESQDIKL
NT seq 1509 nt   +upstreamnt  +downstreamnt
atgcttttgcgaagtgcaggaaaattaaatgtgggcaccaagaaagaggatggtgagagt
acagcccccaccccccgtccaaaggtcttgcgttgtaaatgccaccaccattgtccagaa
gactcagtcaacaatatttgcagcacagacggatattgtttcacgatgatagaagaggat
gactctgggttgcctgtggtcacttctggttgcctaggactagaaggctcagattttcag
tgtcgggacactcccattcctcatcaaagaagatcaattgaatgctgcacagaaaggaac
gaatgtaataaagacctacaccctacactgcctccattgaaaaacagagattttgttgat
ggacctatacaccacagggctttacttatatctgtgactgtctgtagtttgctcttggtc
cttatcatattattttgttacttccggtataaaagacaagaaaccagacctcgatacagc
attgggttagaacaggatgaaacttacattcctcctggagaatccctgagagacttaatt
gagcagtctcagagctcaggaagtggatcaggcctccctctgctggtccaaaggactata
gctaagcagattcagatggtgaaacagattggaaaaggtcgctatggggaagtttggatg
ggaaagtggcgtggcgaaaaggtagctgtgaaagtgttcttcaccacagaggaagccagc
tggttcagagagacagaaatatatcagacagtgttgatgaggcatgaaaacattttgggt
ttcattgctgcagatatcaaagggacagggtcctggacccagttgtacctaatcacagac
tatcatgaaaatggttccctttatgattatctgaagtccaccaccctagacgctaaatca
atgctgaagttagcctactcttctgtcagtggcttatgtcatttacacacagaaatcttt
agtactcaaggcaaaccagcaattgcccatcgagatctgaaaagtaaaaacattctggtg
aagaaaaatggaacttgctgtattgctgacctgggcctggctgttaaatttattagtgat
acaaatgaagttgacataccacctaacactcgagttggcaccaaacgctatatgcctcca
gaagtgttggacgagagcttgaacagaaatcacttccagtcttacatcatggctgacatg
tatagttttggcctcatcctttgggaggttgctaggagatgtgtatcaggaggtatagtg
gaagaataccagcttccttatcatgacctagtgcccagtgacccctcttatgaggacatg
agggagattgtgtgcatcaagaagttacgcccctcattcccaaaccggtggagcagtgat
gagtgtctaaggcagatgggaaaactcatgacagaatgctgggctcacaatcctgcatca
aggctgacagccctgcgggttaagaaaacacttgccaaaatgtcagagtcccaggacatt
aaactctga

KEGG   Homo sapiens (human): 90
Entry
90                CDS       T01001                                 
Symbol
ACVR1, ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
Name
(RefSeq) activin A receptor type 1
  KO
K04675  activin receptor type-1 [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04350  TGF-beta signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06507  TGFB signaling
  Element
N01453  BMP signaling pathway
N01454  AMH signaling pathway
N01458  BMP-HAMP signaling pathway
N01461  BMP-HAMP signaling pathway, auxiliary factor
Disease
H00430  Fibrodysplasia ossificans progressiva
Drug target
Fidrisertib (DG03275): D12711
Momelotinib (DG01366): D10889<JP/US>
Zilurgisertib (DG03259): D12547 D12548
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    90 (ACVR1)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    90 (ACVR1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    90 (ACVR1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    90 (ACVR1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    90 (ACVR1)
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
     90 (ACVR1)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   90 (ACVR1)
SSDB
Motif
Pfam: Pkinase PK_Tyr_Ser-Thr TGF_beta_GS Activin_recp Pkinase_fungal Haspin_kinase FTA2 APH DUF347
Other DBs
NCBI-GeneID: 90
NCBI-ProteinID: NP_001096
OMIM: 102576
HGNC: 171
Ensembl: ENSG00000115170
UniProt: Q04771 D3DPA4
Structure
LinkDB
Position
2:complement(157736446..157876330)
AA seq 509 aa
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIN
DGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNF
HLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTL
ADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVM
HSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS
NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC
NT seq 1530 nt   +upstreamnt  +downstreamnt
atggtagatggagtgatgattcttcctgtgcttatcatgattgctctcccctcccctagt
atggaagatgagaagcccaaggtcaaccccaaactctacatgtgtgtgtgtgaaggtctc
tcctgcggtaatgaggaccactgtgaaggccagcagtgcttttcctcactgagcatcaac
gatggcttccacgtctaccagaaaggctgcttccaggtttatgagcagggaaagatgacc
tgtaagaccccgccgtcccctggccaagccgtggagtgctgccaaggggactggtgtaac
aggaacatcacggcccagctgcccactaaaggaaaatccttccctggaacacagaatttc
cacttggaggttggcctcattattctctctgtagtgttcgcagtatgtcttttagcctgc
ctgctgggagttgctctccgaaaatttaaaaggcgcaaccaagaacgcctcaatccccga
gacgtggagtatggcactatcgaagggctcatcaccaccaatgttggagacagcacttta
gcagatttattggatcattcgtgtacatcaggaagtggctctggtcttccttttctggta
caaagaacagtggctcgccagattacactgttggagtgtgtcgggaaaggcaggtatggt
gaggtgtggaggggcagctggcaaggggagaatgttgccgtgaagatcttctcctcccgt
gatgagaagtcatggttcagggaaacggaattgtacaacactgtgatgctgaggcatgaa
aatatcttaggtttcattgcttcagacatgacatcaagacactccagtacccagctgtgg
ttaattacacattatcatgaaatgggatcgttgtacgactatcttcagcttactactctg
gatacagttagctgccttcgaatagtgctgtccatagctagtggtcttgcacatttgcac
atagagatatttgggacccaagggaaaccagccattgcccatcgagatttaaagagcaaa
aatattctggttaagaagaatggacagtgttgcatagcagatttgggcctggcagtcatg
cattcccagagcaccaatcagcttgatgtggggaacaatccccgtgtgggcaccaagcgc
tacatggcccccgaagttctagatgaaaccatccaggtggattgtttcgattcttataaa
agggtcgatatttgggcctttggacttgttttgtgggaagtggccaggcggatggtgagc
aatggtatagtggaggattacaagccaccgttctacgatgtggttcccaatgacccaagt
tttgaagatatgaggaaggtagtctgtgtggatcaacaaaggccaaacatacccaacaga
tggttctcagacccgacattaacctctctggccaagctaatgaaagaatgctggtatcaa
aatccatccgcaagactcacagcactgcgtatcaaaaagactttgaccaaaattgataat
tccctcgacaaattgaaaactgactgttga

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