KEGG   Homo sapiens (human): 657Help
Entry
657               CDS       T01001                                 

Gene name
BMPR1A, 10q23del, ACVRLK3, ALK3, CD292, SKR5
Definition
(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
Module
hsa_M00679  BMP signaling
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 diseases
   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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Pkinase_Tyr Pkinase TGF_beta_GS Activin_recp Pkinase_fungal FTA2 Haspin_kinase APH
Motif
Other DBs
NCBI-GeneID: 657
NCBI-ProteinID: NP_004320
OMIM: 601299
HGNC: 1076
Ensembl: ENSG00000107779
Vega: OTTHUMG00000018657
Pharos: P36894(Tchem)
UniProt: P36894
Structure
PDB: 

Position
10q23.2
AA seq 532 aa AA seqDB search
MPQLYIYIRLLGAYLFIISRVQGQNLDSMLHGTGMKSDSDQKKSENGVTLAPEDTLPFLK
CYCSGHCPDDAINNTCITNGHCFAIIEEDDQGETTLASGCMKYEGSDFQCKDSPKAQLRR
TIECCRTNLCNQYLQPTLPPVVIGPFFDGSIRWLVLLISMAVCIIAMIIFSSCFCYKHYC
KSISSRRRYNRDLEQDEAFIPVGESLKDLIDQSQSSGSGSGLPLLVQRTIAKQIQMVRQV
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTG
SWTQLYLITDYHENGSLYDFLKCATLDTRALLKLAYSAACGLCHLHTEIYGTQGKPAIAH
RDLKSKNILIKKNGSCCIADLGLAVKFNSDTNEVDVPLNTRVGTKRYMAPEVLDESLNKN
HFQPYIMADIYSFGLIIWEMARRCITGGIVEEYQLPYYNMVPSDPSYEDMREVVCVKRLR
PIVSNRWNSDECLRAVLKLMSECWAHNPASRLTALRIKKTLAKMVESQDVKI
NT seq 1599 nt NT seq  +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

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Ontology (6)   
   KEGG BRITE (6)   
Pathway (6)   
   KEGG PATHWAY (5)   
   KEGG MODULE (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (15)   
   RefSeq(nuc) (3)   
   GenBank (6)   
   EMBL (6)   
Protein domain (8)   
   Pfam (8)   
All databases (59)   

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KEGG   Homo sapiens (human): 658Help
Entry
658               CDS       T01001                                 

Gene name
BMPR1B, ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293
Definition
(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
Module
hsa_M00679  BMP signaling
Disease
H00468  Acromesomelic dysplasia, Demirhan type
H00482  Brachydactyly
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
   04360 Axon guidance
    658 (BMPR1B)
 09160 Human Diseases
  09166 Cardiovascular diseases
   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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Pkinase_Tyr Pkinase TGF_beta_GS Activin_recp FTA2 Haspin_kinase
Motif
Other DBs
NCBI-GeneID: 658
NCBI-ProteinID: NP_001194
OMIM: 603248
HGNC: 1077
Ensembl: ENSG00000138696
Vega: OTTHUMG00000130991
Pharos: O00238(Tbio)
UniProt: O00238
Structure
PDB: 

Position
4q22.3
AA seq 502 aa AA seqDB search
MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED
DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD
GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI
EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS
WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD
TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV
EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS
RLTALRVKKTLAKMSESQDIKL
NT seq 1509 nt NT seq  +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

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Ontology (6)   
   KEGG BRITE (6)   
Pathway (7)   
   KEGG PATHWAY (6)   
   KEGG MODULE (1)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (27)   
   RefSeq(nuc) (9)   
   GenBank (9)   
   EMBL (9)   
Protein domain (6)   
   Pfam (6)   
All databases (80)   

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KEGG   Homo sapiens (human): 90Help
Entry
90                CDS       T01001                                 

Gene name
ACVR1, ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
Definition
(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
Module
hsa_M00679  BMP signaling
Disease
H00430  Fibrodysplasia ossificans progressiva
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 diseases
   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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Pkinase_Tyr Pkinase TGF_beta_GS Activin_recp APH Haspin_kinase FTA2
Motif
Other DBs
NCBI-GeneID: 90
NCBI-ProteinID: NP_001096
OMIM: 102576
HGNC: 171
Ensembl: ENSG00000115170
Vega: OTTHUMG00000131967
Pharos: Q04771(Tchem)
UniProt: Q04771 D3DPA4
Structure
PDB: 

Position
2q24.1
AA seq 509 aa AA seqDB search
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIN
DGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNF
HLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTL
ADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVM
HSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS
NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC
NT seq 1530 nt NT seq  +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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Ontology (5)   
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Pathway (5)   
   KEGG PATHWAY (4)   
   KEGG MODULE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (29)   
   RefSeq(nuc) (9)   
   GenBank (10)   
   EMBL (10)   
Protein domain (7)   
   Pfam (7)   
All databases (81)   

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