Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Bone morphogenetic protein 1

Gene

BMP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX.

Catalytic activityi

Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.

Cofactori

Zn2+PROSITE-ProRule annotation1 PublicationNote: Binds 1 zinc ion per subunit.PROSITE-ProRule annotation1 Publication

Activity regulationi

Activity is increased by the procollagen C-endopeptidase enhancer protein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi213Zinc; via tele nitrogen; catalyticPROSITE-ProRule annotation1 Publication1
Active sitei214PROSITE-ProRule annotation1 Publication1
Metal bindingi217Zinc; via tele nitrogen; catalyticPROSITE-ProRule annotation1 Publication1
Metal bindingi223Zinc; via tele nitrogen; catalyticPROSITE-ProRule annotation1 Publication1

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • cytokine activity Source: UniProtKB-KW
  • growth factor activity Source: UniProtKB-KW
  • identical protein binding Source: IntAct
  • metalloendopeptidase activity Source: Reactome
  • metallopeptidase activity Source: UniProtKB
  • peptidase activity Source: UniProtKB
  • serine-type endopeptidase activity Source: Reactome
  • zinc ion binding Source: InterPro

GO - Biological processi

Keywordsi

Molecular functionCytokine, Developmental protein, Growth factor, Hydrolase, Metalloprotease, Protease
Biological processChondrogenesis, Differentiation, Osteogenesis
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.19 2681
ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-8963896 HDL assembly

Protein family/group databases

MEROPSiM12.005

Names & Taxonomyi

Protein namesi
Recommended name:
Bone morphogenetic protein 1 (EC:3.4.24.19)
Short name:
BMP-1
Alternative name(s):
Mammalian tolloid protein
Short name:
mTld
Procollagen C-proteinase
Short name:
PCP
Gene namesi
Name:BMP1
Synonyms:PCOLC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000168487.17
HGNCiHGNC:1067 BMP1
MIMi112264 gene
neXtProtiNX_P13497

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Golgi apparatus, Secreted

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 13 (OI13)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.
See also OMIM:614856
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06909612G → R in OI13; the mutation leads to severely reduced post-translational N-glycosylation of the protein and impairs protein secretion; leads to both reduced secretion and subsequent reduced processing of the substrates CHRD and COL1A1. 1 PublicationCorresponds to variant dbSNP:rs318240762EnsemblClinVar.1
Natural variantiVAR_067224249F → L in OI13; leads to a protein with deficient procollagen I C-terminal propeptide proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs398122891EnsemblClinVar.1
Natural variantiVAR_072248270M → V in OI13; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs786205219EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi119 – 120RR → AA: Doesn't abolish secretion. 1 Publication2

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

DisGeNETi649
MalaCardsiBMP1
MIMi614856 phenotype
OpenTargetsiENSG00000168487
Orphaneti314029 High bone mass osteogenesis imperfecta
216812 Osteogenesis imperfecta type 3
PharmGKBiPA25377

Chemistry databases

ChEMBLiCHEMBL3898
GuidetoPHARMACOLOGYi2333

Polymorphism and mutation databases

BioMutaiBMP1
DMDMi13124688

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
PropeptideiPRO_000002888923 – 1201 PublicationAdd BLAST98
ChainiPRO_0000028890121 – 986Bone morphogenetic protein 1Add BLAST866

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi91N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi163 ↔ 319PROSITE-ProRule annotation1 Publication
Disulfide bondi183 ↔ 205PROSITE-ProRule annotation1 Publication
Disulfide bondi185 ↔ 186PROSITE-ProRule annotation1 Publication
Disulfide bondi322 ↔ 348By similarity
Glycosylationi332N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi363N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi375 ↔ 397By similarity
Disulfide bondi435 ↔ 461By similarity
Disulfide bondi488 ↔ 510By similarity
Disulfide bondi551 ↔ 563By similarity
Disulfide bondi559 ↔ 572By similarity
Disulfide bondi574 ↔ 587By similarity
Disulfide bondi591 ↔ 617By similarity
Glycosylationi599N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi644 ↔ 666By similarity
Disulfide bondi707 ↔ 718By similarity
Disulfide bondi714 ↔ 727By similarity
Disulfide bondi729 ↔ 742By similarity
Disulfide bondi747 ↔ 773By similarity
Disulfide bondi800 ↔ 822By similarity
Disulfide bondi860 ↔ 890By similarity
Disulfide bondi917 ↔ 939By similarity
Modified residuei934Omega-N-methylarginineBy similarity1
Modified residuei937Omega-N-methylarginineBy similarity1

Post-translational modificationi

Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Methylation, Zymogen

Proteomic databases

EPDiP13497
PaxDbiP13497
PeptideAtlasiP13497
PRIDEiP13497
ProteomicsDBi52914
52915 [P13497-2]
52916 [P13497-3]
52917 [P13497-4]
52918 [P13497-5]
52919 [P13497-6]

PTM databases

GlyConnecti1045
iPTMnetiP13497
PhosphoSitePlusiP13497

Miscellaneous databases

PMAP-CutDBiP13497

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000168487 Expressed in 197 organ(s), highest expression level in placenta
CleanExiHS_BMP1
ExpressionAtlasiP13497 baseline and differential
GenevisibleiP13497 HS

Organism-specific databases

HPAiHPA014572

Interactioni

Subunit structurei

Interacts with POSTN, the interaction promotes deposition on the extracellular matrix.By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107117, 45 interactors
DIPiDIP-33403N
ELMiP13497
IntActiP13497, 14 interactors
MINTiP13497
STRINGi9606.ENSP00000305714

Chemistry databases

BindingDBiP13497

Structurei

Secondary structure

1986
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP13497
SMRiP13497
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13497

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini121 – 320Peptidase M12APROSITE-ProRule annotationAdd BLAST200
Domaini322 – 434CUB 1PROSITE-ProRule annotationAdd BLAST113
Domaini435 – 546CUB 2PROSITE-ProRule annotationAdd BLAST112
Domaini547 – 588EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini591 – 703CUB 3PROSITE-ProRule annotationAdd BLAST113
Domaini704 – 743EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini747 – 859CUB 4PROSITE-ProRule annotationAdd BLAST113
Domaini860 – 976CUB 5PROSITE-ProRule annotationAdd BLAST117

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3714 Eukaryota
ENOG410ZPX7 LUCA
GeneTreeiENSGT00760000119018
HOVERGENiHBG004859
InParanoidiP13497
KOiK05502
OMAiKGFEASH
OrthoDBiEOG091G009U
PhylomeDBiP13497
TreeFamiTF314351

Family and domain databases

CDDicd00041 CUB, 5 hits
cd04281 ZnMc_BMP1_TLD, 1 hit
Gene3Di2.60.120.290, 5 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR015446 BMP_1/tolloid-like
IPR000859 CUB_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR024079 MetalloPept_cat_dom_sf
IPR001506 Peptidase_M12A
IPR006026 Peptidase_Metallo
IPR035914 Sperma_CUB_dom_sf
IPR034036 ZnMP_TLD/BMP1
PfamiView protein in Pfam
PF01400 Astacin, 1 hit
PF00431 CUB, 5 hits
PF07645 EGF_CA, 1 hit
PIRSFiPIRSF001199 BMP_1/tolloid-like, 1 hit
PRINTSiPR00480 ASTACIN
SMARTiView protein in SMART
SM00042 CUB, 5 hits
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits
SM00235 ZnMc, 1 hit
SUPFAMiSSF49854 SSF49854, 5 hits
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS51864 ASTACIN, 1 hit
PS00010 ASX_HYDROXYL, 2 hits
PS01180 CUB, 5 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits
PS00142 ZINC_PROTEASE, 1 hit

Sequences (7+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform BMP1-3 (identifier: P13497-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPGVARLPLL LGLLLLPRPG RPLDLADYTY DLAEEDDSEP LNYKDPCKAA
60 70 80 90 100
AFLGDIALDE EDLRAFQVQQ AVDLRRHTAR KSSIKAAVPG NTSTPSCQST
110 120 130 140 150
NGQPQRGACG RWRGRSRSRR AATSRPERVW PDGVIPFVIG GNFTGSQRAV
160 170 180 190 200
FRQAMRHWEK HTCVTFLERT DEDSYIVFTY RPCGCCSYVG RRGGGPQAIS
210 220 230 240 250
IGKNCDKFGI VVHELGHVVG FWHEHTRPDR DRHVSIVREN IQPGQEYNFL
260 270 280 290 300
KMEPQEVESL GETYDFDSIM HYARNTFSRG IFLDTIVPKY EVNGVKPPIG
310 320 330 340 350
QRTRLSKGDI AQARKLYKCP ACGETLQDST GNFSSPEYPN GYSAHMHCVW
360 370 380 390 400
RISVTPGEKI ILNFTSLDLY RSRLCWYDYV EVRDGFWRKA PLRGRFCGSK
410 420 430 440 450
LPEPIVSTDS RLWVEFRSSS NWVGKGFFAV YEAICGGDVK KDYGHIQSPN
460 470 480 490 500
YPDDYRPSKV CIWRIQVSEG FHVGLTFQSF EIERHDSCAY DYLEVRDGHS
510 520 530 540 550
ESSTLIGRYC GYEKPDDIKS TSSRLWLKFV SDGSINKAGF AVNFFKEVDE
560 570 580 590 600
CSRPNRGGCE QRCLNTLGSY KCSCDPGYEL APDKRRCEAA CGGFLTKLNG
610 620 630 640 650
SITSPGWPKE YPPNKNCIWQ LVAPTQYRIS LQFDFFETEG NDVCKYDFVE
660 670 680 690 700
VRSGLTADSK LHGKFCGSEK PEVITSQYNN MRVEFKSDNT VSKKGFKAHF
710 720 730 740 750
FSDKDECSKD NGGCQQDCVN TFGSYECQCR SGFVLHDNKH DCKEAGCDHK
760 770 780 790 800
VTSTSGTITS PNWPDKYPSK KECTWAISST PGHRVKLTFM EMDIESQPEC
810 820 830 840 850
AYDHLEVFDG RDAKAPVLGR FCGSKKPEPV LATGSRMFLR FYSDNSVQRK
860 870 880 890 900
GFQASHATEC GGQVRADVKT KDLYSHAQFG DNNYPGGVDC EWVIVAEEGY
910 920 930 940 950
GVELVFQTFE VEEETDCGYD YMELFDGYDS TAPRLGRYCG SGPPEEVYSA
960 970 980
GDSVLVKFHS DDTITKKGFH LRYTSTKFQD TLHSRK
Length:986
Mass (Da):111,249
Last modified:February 21, 2001 - v2
Checksum:iF89201913AC3CBEA
GO
Isoform BMP1-1 (identifier: P13497-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     703-730: DKDECSKDNGGCQQDCVNTFGSYECQCR → EKRPALQPPRGRPHQLKFRVQKRNRTPQ
     731-986: Missing.

Show »
Length:730
Mass (Da):82,900
Checksum:iE506D63729A9E86D
GO
Isoform BMP1-2 (identifier: P13497-7)
Sequence is not available
Length:
Mass (Da):
Isoform BMP1-4 (identifier: P13497-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-302: QEYNFLKMEP...NGVKPPIGQR → VLHSSLLLLS...AAPRTLRAGV
     303-986: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:302
Mass (Da):33,424
Checksum:i9FCDE92B1F884B15
GO
Isoform BMP1-5 (identifier: P13497-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-622: AACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLV → GCYDLQVGKPLLWDRHCFRLSTHGPEMLGTALRG
     623-986: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:622
Mass (Da):70,469
Checksum:iA47CE9FD49D5A8D7
GO
Isoform BMP1-6 (identifier: P13497-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     703-717: DKDECSKDNGGCQQD → GGELFGLLGHPPRRP
     718-986: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:717
Mass (Da):81,082
Checksum:iAE07361E00A6A700
GO
Isoform BMP1-7 (identifier: P13497-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     703-823: DKDECSKDNG...KAPVLGRFCG → VLEGAGDRHS...PATFRGIWAL
     824-986: Missing.

Show »
Length:823
Mass (Da):92,655
Checksum:i09148B0724B5F1A8
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q3MIM8Q3MIM8_HUMAN
Metalloendopeptidase
BMP1
302Annotation score:
B7ZKR5B7ZKR5_HUMAN
BMP1 protein
BMP1
189Annotation score:
E5RH22E5RH22_HUMAN
Bone morphogenetic protein 1
BMP1
61Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti748D → N in AAC41710 (PubMed:7798260).Curated1
Sequence conflicti934R → S in AAC41710 (PubMed:7798260).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06909612G → R in OI13; the mutation leads to severely reduced post-translational N-glycosylation of the protein and impairs protein secretion; leads to both reduced secretion and subsequent reduced processing of the substrates CHRD and COL1A1. 1 PublicationCorresponds to variant dbSNP:rs318240762EnsemblClinVar.1
Natural variantiVAR_03614145D → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_067224249F → L in OI13; leads to a protein with deficient procollagen I C-terminal propeptide proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs398122891EnsemblClinVar.1
Natural variantiVAR_072248270M → V in OI13; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs786205219EnsemblClinVar.1
Natural variantiVAR_051584719V → I. Corresponds to variant dbSNP:rs11996036EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005463245 – 302QEYNF…PIGQR → VLHSSLLLLSCGSRNGASFP CSLESSTHQALCWTGLFLRP SPFPRLPLAAPRTLRAGV in isoform BMP1-4. 1 PublicationAdd BLAST58
Alternative sequenceiVSP_005464303 – 986Missing in isoform BMP1-4. 1 PublicationAdd BLAST684
Alternative sequenceiVSP_005465589 – 622AACGG…IWQLV → GCYDLQVGKPLLWDRHCFRL STHGPEMLGTALRG in isoform BMP1-5. 2 PublicationsAdd BLAST34
Alternative sequenceiVSP_005466623 – 986Missing in isoform BMP1-5. 2 PublicationsAdd BLAST364
Alternative sequenceiVSP_005469703 – 823DKDEC…GRFCG → VLEGAGDRHSHLSGLELLLC PHALVDTVPAPPSALHGDTH AHTHTHVHTHCPIAQETCRG PPLGASRLSPQGPGHLTLAP QEGSYLDFWDTHRGDPKPRR RRKSLKTFSLTPATFRGIWA L in isoform BMP1-7. CuratedAdd BLAST121
Alternative sequenceiVSP_005461703 – 730DKDEC…ECQCR → EKRPALQPPRGRPHQLKFRV QKRNRTPQ in isoform BMP1-1. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_005467703 – 717DKDEC…GCQQD → GGELFGLLGHPPRRP in isoform BMP1-6. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_005468718 – 986Missing in isoform BMP1-6. 1 PublicationAdd BLAST269
Alternative sequenceiVSP_005462731 – 986Missing in isoform BMP1-1. 1 PublicationAdd BLAST256
Alternative sequenceiVSP_005470824 – 986Missing in isoform BMP1-7. CuratedAdd BLAST163

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50330 mRNA Translation: AAA93462.1
M22488 mRNA Translation: AAA51833.1
Y08723 mRNA Translation: CAA69973.1
Y08724 mRNA Translation: CAA69974.1
Y08725 mRNA Translation: CAA69975.1
L35278 mRNA Translation: AAC41703.1
L35279 mRNA Translation: AAC41710.1
AK291620 mRNA Translation: BAF84309.1
CH471080 Genomic DNA Translation: EAW63698.1
CH471080 Genomic DNA Translation: EAW63703.1
CH471080 Genomic DNA Translation: EAW63704.1
BC136679 mRNA Translation: AAI36680.1
CCDSiCCDS34856.1 [P13497-2]
CCDS6026.1 [P13497-1]
PIRiA37278 BMHU1
A58788
B58788
RefSeqiNP_001190.1, NM_001199.3 [P13497-2]
NP_006120.1, NM_006129.4 [P13497-1]
XP_011542919.1, XM_011544617.1 [P13497-4]
XP_016869227.1, XM_017013738.1 [P13497-5]
UniGeneiHs.1274

Genome annotation databases

EnsembliENST00000306349; ENSP00000306121; ENSG00000168487 [P13497-2]
ENST00000306385; ENSP00000305714; ENSG00000168487 [P13497-1]
ENST00000471755; ENSP00000428665; ENSG00000168487 [P13497-4]
ENST00000520970; ENSP00000428332; ENSG00000168487 [P13497-2]
ENST00000521385; ENSP00000430406; ENSG00000168487 [P13497-5]
GeneIDi649
KEGGihsa:649
UCSCiuc003xbb.4 human [P13497-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50330 mRNA Translation: AAA93462.1
M22488 mRNA Translation: AAA51833.1
Y08723 mRNA Translation: CAA69973.1
Y08724 mRNA Translation: CAA69974.1
Y08725 mRNA Translation: CAA69975.1
L35278 mRNA Translation: AAC41703.1
L35279 mRNA Translation: AAC41710.1
AK291620 mRNA Translation: BAF84309.1
CH471080 Genomic DNA Translation: EAW63698.1
CH471080 Genomic DNA Translation: EAW63703.1
CH471080 Genomic DNA Translation: EAW63704.1
BC136679 mRNA Translation: AAI36680.1
CCDSiCCDS34856.1 [P13497-2]
CCDS6026.1 [P13497-1]
PIRiA37278 BMHU1
A58788
B58788
RefSeqiNP_001190.1, NM_001199.3 [P13497-2]
NP_006120.1, NM_006129.4 [P13497-1]
XP_011542919.1, XM_011544617.1 [P13497-4]
XP_016869227.1, XM_017013738.1 [P13497-5]
UniGeneiHs.1274

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3EDGX-ray1.27A121-321[»]
3EDHX-ray1.25A121-321[»]
6BSLX-ray1.45A/B121-321[»]
6BSMX-ray2.33A121-320[»]
6BTNX-ray2.05A/B121-321[»]
6BTOX-ray2.05A/B121-321[»]
6BTPX-ray1.93A/B121-320[»]
6BTQX-ray1.75A/B121-321[»]
ProteinModelPortaliP13497
SMRiP13497
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107117, 45 interactors
DIPiDIP-33403N
ELMiP13497
IntActiP13497, 14 interactors
MINTiP13497
STRINGi9606.ENSP00000305714

Chemistry databases

BindingDBiP13497
ChEMBLiCHEMBL3898
GuidetoPHARMACOLOGYi2333

Protein family/group databases

MEROPSiM12.005

PTM databases

GlyConnecti1045
iPTMnetiP13497
PhosphoSitePlusiP13497

Polymorphism and mutation databases

BioMutaiBMP1
DMDMi13124688

Proteomic databases

EPDiP13497
PaxDbiP13497
PeptideAtlasiP13497
PRIDEiP13497
ProteomicsDBi52914
52915 [P13497-2]
52916 [P13497-3]
52917 [P13497-4]
52918 [P13497-5]
52919 [P13497-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306349; ENSP00000306121; ENSG00000168487 [P13497-2]
ENST00000306385; ENSP00000305714; ENSG00000168487 [P13497-1]
ENST00000471755; ENSP00000428665; ENSG00000168487 [P13497-4]
ENST00000520970; ENSP00000428332; ENSG00000168487 [P13497-2]
ENST00000521385; ENSP00000430406; ENSG00000168487 [P13497-5]
GeneIDi649
KEGGihsa:649
UCSCiuc003xbb.4 human [P13497-1]

Organism-specific databases

CTDi649
DisGeNETi649
EuPathDBiHostDB:ENSG00000168487.17
GeneCardsiBMP1
HGNCiHGNC:1067 BMP1
HPAiHPA014572
MalaCardsiBMP1
MIMi112264 gene
614856 phenotype
neXtProtiNX_P13497
OpenTargetsiENSG00000168487
Orphaneti314029 High bone mass osteogenesis imperfecta
216812 Osteogenesis imperfecta type 3
PharmGKBiPA25377
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3714 Eukaryota
ENOG410ZPX7 LUCA
GeneTreeiENSGT00760000119018
HOVERGENiHBG004859
InParanoidiP13497
KOiK05502
OMAiKGFEASH
OrthoDBiEOG091G009U
PhylomeDBiP13497
TreeFamiTF314351

Enzyme and pathway databases

BRENDAi3.4.24.19 2681
ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-8963896 HDL assembly

Miscellaneous databases

ChiTaRSiBMP1 human
EvolutionaryTraceiP13497
GeneWikiiBone_morphogenetic_protein_1
GenomeRNAii649
PMAP-CutDBiP13497
PROiPR:P13497
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168487 Expressed in 197 organ(s), highest expression level in placenta
CleanExiHS_BMP1
ExpressionAtlasiP13497 baseline and differential
GenevisibleiP13497 HS

Family and domain databases

CDDicd00041 CUB, 5 hits
cd04281 ZnMc_BMP1_TLD, 1 hit
Gene3Di2.60.120.290, 5 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR015446 BMP_1/tolloid-like
IPR000859 CUB_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR024079 MetalloPept_cat_dom_sf
IPR001506 Peptidase_M12A
IPR006026 Peptidase_Metallo
IPR035914 Sperma_CUB_dom_sf
IPR034036 ZnMP_TLD/BMP1
PfamiView protein in Pfam
PF01400 Astacin, 1 hit
PF00431 CUB, 5 hits
PF07645 EGF_CA, 1 hit
PIRSFiPIRSF001199 BMP_1/tolloid-like, 1 hit
PRINTSiPR00480 ASTACIN
SMARTiView protein in SMART
SM00042 CUB, 5 hits
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits
SM00235 ZnMc, 1 hit
SUPFAMiSSF49854 SSF49854, 5 hits
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS51864 ASTACIN, 1 hit
PS00010 ASX_HYDROXYL, 2 hits
PS01180 CUB, 5 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits
PS00142 ZINC_PROTEASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBMP1_HUMAN
AccessioniPrimary (citable) accession number: P13497
Secondary accession number(s): A8K6F5
, B2RN46, D3DSR0, Q13292, Q13872, Q14874, Q99421, Q99422, Q99423, Q9UL38
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: February 21, 2001
Last modified: November 7, 2018
This is version 211 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again