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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BMP1 Gene

protein-coding GIFtS: 68
GCID: GC08P022022

bone morphogenetic protein 1

(Previous name: procollagen C-endopeptidase )
(Previous symbol: PCOLC)

Explore 26 diseases affiliated with
BMP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Bone Morphogenetic Protein 1¹ ²		OI13²
PCOLC¹ ² ³		PCP2²
Procollagen C-Endopeptidase¹ ²		TLD²
Mammalian Tolloid Protein² ³		BMP-1³
Procollagen C-Proteinase² ³		MTld¹
PCP² ³		EC 3.4.24⁸
EC 3.4.24.19³ ⁸

External Ids:	HGNC: 1067¹	Entrez Gene: 649²	Ensembl: ENSG00000168487⁷	OMIM: 112264⁵	UniProtKB: P13497³

ORGUL members:
	NONCODE:n409237 n409238

Export aliases for BMP1 gene to outside databases

Previous GC identifers: GC08P021781 GC08P022375 GC08P021843 GC08P022044 GC08P022078 GC08P020564

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BMP1:

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone

morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely

related to other known growth factors. This gene is expressed as alternatively spliced variants that share an

N-terminal protease domain but differ in their C-terminal region. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497

Function: 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

Gene Wiki entry for BMP1 (Bone morphogenetic protein 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BMP1 gene promoter:
GR p53 GR-beta GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BMP1 promoter sequence

Search SABiosciences Chromatin IP Primers for BMP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.3 Ensembl cytogenetic band: 8p21.3 HGNC cytogenetic band: 8p21

BMP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMP1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P022022: view genomic region (about GC identifiers)

Start:	22,022,249 bp from pter	End:	22,069,839 bp from pter
Size:	47,591 bases	Orientation:	plus strand

ORGUL member locations:
Legend (see complete legend)

n409238
n409237

lncRNA
Full Legend

22022652 22046246 22069840 chr8

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497 (See protein sequence)

Recommended Name: Bone morphogenetic protein 1 precursor

Size: 986 amino acids; 111249 Da

Cofactor: Binds 1 zinc ion per subunit

Subunit: Interacts with POSTN, the interaction promotes deposition on the extracellular matrix (By similarity)

Subcellular location: Golgi apparatus, trans-Golgi network. Secreted, extracellular space, extracellular matrix.

Note=Co-localizes with POSTN in the Golgi (By similarity)

2 PDB 3D structures from and Proteopedia for BMP1:

3EDG (3D)

3EDH (3D)

Secondary accessions: A8K6F5 B2RN46 D3DSR0 Q13292 Q13872 Q14874 Q99421 Q99422 Q99423 Q9UL38

Alternative splicing: 7 isoforms: P13497-1 P13497-2 P13497-7 P13497-3 P13497-4 P13497-5 P13497-6 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for BMP1: NX_P13497

Post-translational modifications:

Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not

required for secretion¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13497

4/34 DME Specific Peptides for BMP1 (P13497) (see all 34)

YLEVRDG

WEKHTCV

KDNGGCQ

YEAICGG

BMP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001190.1 NP_006120.1

ENSEMBL proteins:

ENSP00000305714 ENSP00000428332 ENSP00000427950 ENSP00000306121 ENSP00000428798

ENSP00000430015 ENSP00000430977 ENSP00000428249 ENSP00000428665 ENSP00000430406

ENSP00000380917 ENSP00000380915 ENSP00000346941

Reactome Protein details: P13497
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for BMP1 (BMP-1/PCP)
	Browse recombinant and purified proteins available from Enzo Life Sciences
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	Novus Biologicals BMP1 Proteins Novus Biologicals BMP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for BMP1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IEA	--
GO:0005794	Golgi apparatus	IEA	--

BMP1 for ontologies About GeneDecksing

BMP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of BMP1
	R&D Systems Antibodies for BMP1 (BMP-1/PCP)
	OriGene Antibodies: BMP1 OriGene Custom Antibody Services for BMP1
	GenScript Custom Superior Antibodies Services for BMP1
	Novus Biologicals BMP1 Antibodies
	Search for Antibodies for BMP1 at Abcam
	Uscn Antibodies for BMP1
	ThermoFisher Antibodies for BMP1

Assay Products for BMP1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BMP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BMP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BMP1 for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR000859 CUB_dom

IPR015446 BMP_1/tolloid-like

IPR024079 MetalloPept_cat_dom

IPR001881 EGF-like_Ca-bd

IPR000742 EG-like_dom

Graphical View of Domain Structure for InterPro Entry P13497

ProtoNet protein and cluster: P13497

3 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB000859 CUB domain

IPB001506 Astacin family signature

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497

Similarity: Belongs to the peptidase M12A family

Similarity: Contains 5 CUB domains

Similarity: Contains 2 EGF-like domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497

Function: 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 activity: Cleavage of the C-terminal propeptide at Ala- -Asp in type I and II procollagens and at Arg- -Asp

in type III

Enzyme regulation: Activity is increased by the procollagen C-endopeptidase enhancer protein

Genatlas biochemistry entry for BMP1:

bone morphogenetic protein 1,astacin family of metalloproteinases,expressed in bone tissues,acting as a procollagen

C-proteinase that process the fibrillar collagen types I-III and prolysyl-oxidase;also encoding an alternatively

spliced transcript for a protein with a domain identical to Drosophila dorsal-ventral pattern gene tolloid

(TLD),activating TGFB-like molecules,and five other tissue specific,alternatively spliced isoforms

Enzyme Numbers (IUBMB): EC 3.4.24.19¹ ² EC 3.4.24²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): BMP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMP1
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate BMP1 (see all 13):
		hsa-miR-4324 hsa-miR-148b* hsa-miR-615-5p hsa-miR-642a hsa-miR-29a hsa-miR-29c hsa-miR-544b hsa-miR-513b

		SwitchGear 3'UTR luciferase reporter plasmid: BMP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMP1 (see all 4) OriGene shRNA RFP: BMP1 OriGene siRNA: BMP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BMP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 2): BMP1 (NM_006129)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BMP1
		Search LifeMap BioReagents cell lines for BMP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004222	metalloendopeptidase activity	TAS	--
GO:0005125	cytokine activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	--	--
GO:0008083	growth factor activity	IEA	--

BMP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for BMP1:

Decreased melanin production

Animal Models:
Mouse knock-out Bmp1^tm1Blh for BMP1
7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bmp1):

cardiovascular system	craniofacial	digestive/alimentary	embryogenesis	growth/size
mortality/aging	skeleton

BMP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/21 super-pathways (see all 21) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptotic Pathways in Synovial Fibroblasts

8/14 pathways (see all 14)
Apoptotic Pathways in Synovial Fibroblasts	1.00	ERK5 Signaling	0.61
p53 Mediated Apoptosis	0.84	eIF2 Pathway	0.60
Mitochondrial Apoptosis	0.73	Rac1 Pathway	0.58
Telomerase Components in Cell Signaling	0.72	Nuclear Receptor Activation by Vitamin-A	0.57

PEDF Induced Signaling

8/11 pathways (see all 11)
PEDF Induced Signaling	1.00	STAT3 Pathway	0.47
MIF Mediated Glucocorticoid Regulation	0.73	Endothelin-1 Signaling Pathway	0.44
MIF Regulation of Innate Immune Cells	0.71	NFAT Signaling and Lymphocyte Interactions	0.37
IL-6 Pathway	0.61	PGC1Alpha Pathway	0.33

GPCR Pathway

GPCR Pathway	1.00	Estrogen Pathway	0.55
Ras Pathway	0.62	Pancreatic Adenocarcinoma	0.55
Breast Cancer Regulation by Stathmin1	0.58	Paxillin Interactions	0.53
NFAT in Immune Response	0.58

TGF-Beta Pathway

TGF-Beta Pathway	1.00	JNK Pathway	0.50
MAPK Family Pathway	0.60	Regulation of eIF4 and p70S6K	0.43
JAK-STAT Pathway	0.57	SOCS Pathway	0.29

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Pathway sources
See GeneCards unified pathways
Show all pathways

5/69 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMP1 (see all 69)

	Telomerase Components in Cell Signaling
	Molecular Mechanisms of Cancer
	eIF2 Pathway
	Intracellular Calcium Signaling
	JNK Pathway

1 BioSystems Pathway for BMP1

Adipogenesis

5/11 Reactome Pathways for BMP1 (see all 11)

	Assembly of collagen fibrils and other multimeric structures
	Metabolism
	Collagen formation
	Anchoring fibril formation
	Extracellular matrix organization

BMP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BMP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/22 Interacting proteins for BMP1 (P13497^{2, 3} ENSP00000305714⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRD	Q9H2X0²^,³, ENSP00000204604⁴	MINT-7386098 I2D: score=4 STRING: ENSP00000204604
ADRA1A	P35348³, ENSP00000369960⁴	I2D: score=3 STRING: ENSP00000369960
COL1A1	P02452³, ENSP00000225964⁴	I2D: score=2 STRING: ENSP00000225964
COL5A2	P05997³, ENSP00000364000⁴	I2D: score=2 STRING: ENSP00000364000
TP53	P04637³, ENSP00000269305⁴	I2D: score=2 STRING: ENSP00000269305

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	NAS	7798260
GO:0001502	cartilage condensation	TAS	3201241
GO:0001503	ossification	IEA	--
GO:0006508	proteolysis	IDA	16824737
GO:0006629	lipid metabolic process	TAS	--

BMP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BMP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for BMP1 available from Tocris Bioscience About this table

Compound	Action	CAS #
UK 383367	Potent and selective BMP-1 (PCP) inhibitor	[348622-88-8]

2 HMDB Compounds for BMP1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Zinc	Zinc (see all 2)	7440-66-6	--

10/14 Novoseek chemical compound relationships for BMP1 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
procollagen	93.4	223	16716085 (5), 19323056 (5), 15817489 (5), 18542833 (4) (see all 64)
astacin	93.3	34	8787532 (3), 1939172 (2), 8286408 (2), 11283002 (2) (see all 15)
mannitol-1-phosphate	71.3	2	1964486 (1), 19784641 (1)
hydroxamate	34.8	3	11016886 (2)
mannitol	24.9	5	19266906 (1), 1964486 (1), 8981993 (1), 19784641 (1)
zinc	19.7	14	11283002 (2), 16716085 (1), 15817489 (1), 18824173 (1)
serine	6.91	3	1492095 (1), 12744720 (1), 2317211 (1)
heparin	5.64	2	20207734 (1), 11358517 (1)
amine	0	1	11386757 (1)
alanine	0	2	11283002 (1)

Search CenterWatch for drugs/clinical trials and news about BMP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BMP1 gene (6 alternative transcripts):

NM_001199.3 NM_006129.4 NM_006128.2 NM_006130.1 NM_006131.1 NM_006132.1

Unigene Cluster for BMP1:

Bone morphogenetic protein 1

Hs.1274 [show with all ESTs]

Unigene Representative Sequence: AB209590

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000306385(uc011kzc.2 uc003xbg.3) ENST00000520970(uc003xbf.3 uc003xbb.3 uc003xbc.3 uc003xbd.3 uc003xbe.3 uc003xbh.3 uc003xbi.3)

ENST00000518913 ENST00000306349 ENST00000520982 ENST00000520626 ENST00000518656

ENST00000483364 ENST00000471755 ENST00000521385 ENST00000521521 ENST00000523849

ENST00000523457 ENST00000523749 ENST00000517324 ENST00000522332 ENST00000397816

ENST00000397814

miRNA Products:		OriGene 3'-UTR Clone (see all 2): BMP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMP1
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate BMP1 (see all 13):
		hsa-miR-4324 hsa-miR-148b* hsa-miR-615-5p hsa-miR-642a hsa-miR-29a hsa-miR-29c hsa-miR-544b hsa-miR-513b

		SwitchGear 3'UTR luciferase reporter plasmid: BMP1 3' UTR sequence

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BMP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMP1

Additional cDNA sequence:

AB012098.1 AB209590.1 AF289591.1 AK126396.1 AK291620.1 BC002593.2 BC009305.2 BC032105.2

BC044626.1 BC101763.1 BC101765.1 BC136679.1 BC142953.1 BC143338.1 BC144365.1 BC144366.1

L35278.1 L35279.1 M22488.1 NR_033403.1 NR_033404.1 U50330.1

17 DOTS entries:

DT.454519 DT.101983405 DT.97835122 DT.86847766 DT.100782098 DT.92443371 DT.95203479 DT.92338444

DT.101967804 DT.120649286 DT.86857804 DT.91854372 DT.92443351 DT.95130031 DT.100738171 DT.91908304

DT.95130038

24/259 AceView cDNA sequences (see all 259):

BG006108 AU134498 AW338293 AI127984 AL546724 AI066641 AI653499 AI984939

BM768040 CA434159 AI571423 AI990499 NM_006128 AI089614 AL137746 AW084986

BM770518 L35278 CN483070 BU627735 NM_006131 BC044626 AW337200 Y08724

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for BMP1 (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11	^	12a	·	12b	^	13	^	14a	·	14b	^	15	^	16	^	17a	·	17b	^	18	^
SP1:							-		-										-				-				-								-				-								-
SP2:							-		-										-				-				-								-				-								-
SP3:							-		-										-								-								-				-								-
SP4:							-		-										-				-				-								-				-
SP5:							-		-										-				-				-								-				-								-

ExUns:	19a	·	19b	·	19c	^	20	^	21	^	22	^	23	^	24	^	25	^	26
SP1:	-		-		-		-		-
SP2:	-		-		-								-
SP3:	-		-		-
SP4:	-		-		-
SP5:	-

ECgene alternative splicing isoforms for BMP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BMP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGCGTGGAGT

About this image

BMP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BMP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BMP1

SOURCE GeneReport for Unigene cluster: Hs.1274

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Arrays including BMP1 (see all 8):

Osteogenesis in human mouse rat

Nephrotoxicity in human mouse rat

Growth Factors in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

Common Cytokines in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BMP1 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	BMP1⁶	--	77(a)	1 ↔ 1	GL343443.1(18612-68119)
African clawed frog (Xenopus laevis)	Amphibia	Bmp1²	Xtld protein	80.32(n)		D83476.1
zebrafish (Danio rerio)	Actinopterygii	bmp1a¹	bone morphogenetic protein 1a	73.29(n) 79.09(a)		572452 NM_001040037.1 NP_001035126.1
fruit fly (Drosophila melanogaster)	Insecta	CG42255⁶ tld⁶ (see all 3)	tolloid (see all 3)	4(a) 37(a) (see all 3)	possible ortholog many ↔ many (see all 3)	3L(11795051-11807855) 3R(20575455-20579232)
worm (Caenorhabditis elegans)	Secernentea	Y95B8A.1³	peptidase	38(a) (best of 4)		I(942259-947678) --

ENSEMBL Gene Tree for BMP1 (if available)
TreeFam Gene Tree for BMP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BMP1 gene

TLL2² MFRP² CUBN² CDCP2² NETO1² PCOLCE² TLL1² PCOLCE2²

NETO2²

7 SIMAP similar genes for BMP1 using alignment to 5 protein entries: BMP1_HUMAN (see all proteins):

TLL2 TLL1 DKFZp781F1053 CUBN NRP2 PROC

DKFZp686L21135

BMP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs8192330^1,2	C,F,	--	20563434(+)	`ATGGTG/AGCTAT`	3	--	int¹		4		NS NA	216
rs12542659^1,2	H	--	20563634(+)	`attgcC/Gtgata`	3	--	int¹		0	--	--	--	--
rs3216166^1,2	C,F	--	20564044(+)	`CCTGA-/ATTCTC`	3	--	ut3¹ int¹		3		NS NA	96
rs75518353^1,2	C,F,	--	20564100(+)	`CCCCAA/GCGGGA`	3	--	ut3¹		1		WA	118
rs1126931^1,2	C,F,	--	20564237(+)	`GGTGGC/TGCCCA`	3	--	ut3¹		6		NS MN NA	384
rs8192331^1,2	F	--	20564246(+)	`CAGGGG/CCCCGG`	3	--	ut3¹ tfbs³		2		NS	76
rs8192342^1,2	C	--	20564280(+)	`AGCAGC/TCTGAT`	3	--	ut3¹		4		NS NA	78
rs8192332^1,2	C,F,	--	20564350(+)	`CCGGCC/TAAGAA`	3	--	ds500¹ int¹		10		NS NA CSA WA EA	441
rs62494025^1,2		--	20564416(+)	`CGCTGG/AGGCAC`	3	--	ds500¹ int¹		1		NA	2
rs73225875^1,2	C,F,	--	20610155(+)	`CTTTCC/TCTCTC`	1	--	int¹		3		NA CSA	6

HapMap Linkage Disequilibrium report for BMP1 (22022249 - 22069839 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for BMP1
4 CNVs: 2746 30283 3726 4586
Human Gene Mutation Database (HGMD): BMP1

Locus Specific Mutation Databases (LSDB): BMP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BMP1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BMP1 for disorders About GeneDecksing

OMIM gene information: 112264 OMIM disorders: --

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497

Defects in BMP1 are the cause of osteogenesis imperfecta 13 (OI13) [MIM:614856]. An autosomal recessive form

of osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility, low bone mass, and recurrent

fractures. 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

20/26 diseases for BMP1 (see all 26): About MalaCards

langer-giedion syndrome fibrodysplasia ossificans progressiva epidermolysis bullosa dystrophica epidermolysis bullosa

osteogenesis imperfecta myositis ossificans arterial calcification gastroschisis

papillary thyroid carcinoma myositis myelofibrosis thyroid carcinoma

osteosarcoma hepatitis b breast cancer leiomyoma

thyroiditis ovarian cancer colorectal cancer carcinoma

8 Novoseek disease relationships for BMP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
langer-giedion syndrome	69.1	6	8404039 (2), 7634576 (1)
collagen fibril	65.3	9	16630102 (1), 19323056 (1), 12637537 (1), 12962540 (1) (see all 6)
osteosarcoma	36.2	4	9577409 (2), 7641470 (1), 10846544 (1)
carcinoma squamous cell	0	1	9247707 (1)
scar	0	2	16630102 (2)
hypertrophy	0	1	16630102 (1)
breast cancer	0	1	19227012 (1)
tumors	0	3	19323056 (1), 19305382 (1)

Human Genome Epidemiology (HuGE) Navigator: BMP1 (7 documents)

Export disorders for BMP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BMP1 gene, integrated from 9 sources (see all 181):
(articles sorted by number of sources associating them with BMP1)

Utopia: connect your pdf to the dynamic
world of online information

Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity. (PubMed id 11283002)^{1, 2, 9} Garrigue-Antar L.... Kadler K.E. (2001)
Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network. (PubMed id 12637569)^{1, 2, 9} Leighton M. and Kadler K.E. (2003)
Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. (PubMed id 7798260)^{1, 2, 9} Takahara K.... Greenspan D.S. (1994)
Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PubMed id 18824173)^{1, 2, 9} Mac Sweeney A....Gerhartz B. (2008)
The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1. (PubMed id 8643539)^{1, 2, 9} Li S.W....Prockop D.J. (1996)
Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3. (PubMed id 2004778)^{1, 3, 9} Tabas J.A....Kaplan F.S. (1991)
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. (PubMed id 22052668)^{1, 2} Martinez-Glez V.... Ruiz-Perez V.L. (2012)
Attenuated BMP1 function compromises osteogenesis, lea ding to bone fragility in humans and zebrafish. (PubMed id 22482805)^{1, 2} Asharani P.V....Carney T.J. (2012)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
An unappreciated role for RNA surveillance. (PubMed id 14759258)^{1, 2} Hillman R.T.... Brenner S.E. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 649	HGNC: 1067	AceView: BMP1	Ensembl:ENSG00000168487	euGenes: HUgn649
ECgene: BMP1	H-InvDB: BMP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BMP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BMP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BMP1 gene:
Search GeneIP for patents involving BMP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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bone morphogenetic protein 1

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bone morphogenetic protein 1

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