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BMP1 (bone morphogenetic protein 1)

Identity

Alias_namesPCOLC
procollagen C-endopeptidase
Other aliasOI13
PCP
PCP2
TLD
HGNC (Hugo) BMP1
LocusID (NCBI) 649
Atlas_Id 51108
Location 8p21.3  [Link to chromosome band 8p21]
Location_base_pair Starts at 22165140 and ends at 22201483 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BMP1 (8p21.3) / BMP1 (8p21.3)BMP1 (8p21.3) / MALL (2q13)KCTD10 (12q24.11) / BMP1 (8p21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BMP1   1067
Cards
Entrez_Gene (NCBI)BMP1  649  bone morphogenetic protein 1
AliasesOI13; PCOLC; PCP; PCP2; 
TLD
GeneCards (Weizmann)BMP1
Ensembl hg19 (Hinxton)ENSG00000168487 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168487 [Gene_View]  chr8:22165140-22201483 [Contig_View]  BMP1 [Vega]
ICGC DataPortalENSG00000168487
TCGA cBioPortalBMP1
AceView (NCBI)BMP1
Genatlas (Paris)BMP1
WikiGenes649
SOURCE (Princeton)BMP1
Genetics Home Reference (NIH)BMP1
Genomic and cartography
GoldenPath hg38 (UCSC)BMP1  -     chr8:22165140-22201483 +  8p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BMP1  -     8p21.3   [Description]    (hg19-Feb_2009)
EnsemblBMP1 - 8p21.3 [CytoView hg19]  BMP1 - 8p21.3 [CytoView hg38]
Mapping of homologs : NCBIBMP1 [Mapview hg19]  BMP1 [Mapview hg38]
OMIM112264   614856   
Gene and transcription
Genbank (Entrez)AB012098 AB209590 AF318323 AK126396 AK226123
RefSeq transcript (Entrez)NM_001199 NM_006128 NM_006129 NM_006130 NM_006131 NM_006132
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BMP1
Cluster EST : UnigeneHs.1274 [ NCBI ]
CGAP (NCI)Hs.1274
Alternative Splicing GalleryENSG00000168487
Gene ExpressionBMP1 [ NCBI-GEO ]   BMP1 [ EBI - ARRAY_EXPRESS ]   BMP1 [ SEEK ]   BMP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BMP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)649
GTEX Portal (Tissue expression)BMP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13497   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13497  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13497
Splice isoforms : SwissVarP13497
Catalytic activity : Enzyme3.4.24.19 [ Enzyme-Expasy ]   3.4.24.193.4.24.19 [ IntEnz-EBI ]   3.4.24.19 [ BRENDA ]   3.4.24.19 [ KEGG ]   
PhosPhoSitePlusP13497
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CUB (PS01180)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)BMP_1/tolloid-like    CUB_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_    MetalloPept_cat_dom    Peptidase_M12A    Peptidase_Metallo    ZnMP_TLD/BMP1   
Domain families : Pfam (Sanger)Astacin (PF01400)    CUB (PF00431)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam01400    pfam00431    pfam07645   
Domain families : Smart (EMBL)CUB (SM00042)  EGF (SM00181)  EGF_CA (SM00179)  ZnMc (SM00235)  
Conserved Domain (NCBI)BMP1
DMDM Disease mutations649
Blocks (Seattle)BMP1
PDB (SRS)3EDG    3EDH   
PDB (PDBSum)3EDG    3EDH   
PDB (IMB)3EDG    3EDH   
PDB (RSDB)3EDG    3EDH   
Structural Biology KnowledgeBase3EDG    3EDH   
SCOP (Structural Classification of Proteins)3EDG    3EDH   
CATH (Classification of proteins structures)3EDG    3EDH   
SuperfamilyP13497
Human Protein AtlasENSG00000168487
Peptide AtlasP13497
HPRD00209
IPIIPI00009054   IPI00014021   IPI00218040   IPI00218042   IPI00218044   IPI00218045   IPI00923496   IPI00103868   IPI00975893   IPI01014303   IPI00973964   IPI00719138   
Protein Interaction databases
DIP (DOE-UCLA)P13497
IntAct (EBI)P13497
FunCoupENSG00000168487
BioGRIDBMP1
STRING (EMBL)BMP1
ZODIACBMP1
Ontologies - Pathways
QuickGOP13497
Ontology : AmiGOskeletal system development  cartilage condensation  ossification  metalloendopeptidase activity  serine-type endopeptidase activity  cytokine activity  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular space  Golgi apparatus  proteolysis  multicellular organism development  growth factor activity  peptidase activity  metallopeptidase activity  zinc ion binding  extracellular matrix disassembly  cell differentiation  vesicle  lipoprotein metabolic process  positive regulation of cartilage development  
Ontology : EGO-EBIskeletal system development  cartilage condensation  ossification  metalloendopeptidase activity  serine-type endopeptidase activity  cytokine activity  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular space  Golgi apparatus  proteolysis  multicellular organism development  growth factor activity  peptidase activity  metallopeptidase activity  zinc ion binding  extracellular matrix disassembly  cell differentiation  vesicle  lipoprotein metabolic process  positive regulation of cartilage development  
NDEx NetworkBMP1
Atlas of Cancer Signalling NetworkBMP1
Wikipedia pathwaysBMP1
Orthology - Evolution
OrthoDB649
GeneTree (enSembl)ENSG00000168487
Phylogenetic Trees/Animal Genes : TreeFamBMP1
HOVERGENP13497
HOGENOMP13497
Homologs : HomoloGeneBMP1
Homology/Alignments : Family Browser (UCSC)BMP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMP1
dbVarBMP1
ClinVarBMP1
1000_GenomesBMP1 
Exome Variant ServerBMP1
ExAC (Exome Aggregation Consortium)BMP1 (select the gene name)
Genetic variants : HAPMAP649
Genomic Variants (DGV)BMP1 [DGVbeta]
DECIPHERBMP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBMP1 
Mutations
ICGC Data PortalBMP1 
TCGA Data PortalBMP1 
Broad Tumor PortalBMP1
OASIS PortalBMP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBMP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBMP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BMP1
DgiDB (Drug Gene Interaction Database)BMP1
DoCM (Curated mutations)BMP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMP1 (select a term)
intoGenBMP1
Cancer3DBMP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM112264    614856   
Orphanet18793   
MedgenBMP1
Genetic Testing Registry BMP1
NextProtP13497 [Medical]
TSGene649
GENETestsBMP1
Target ValidationBMP1
Huge Navigator BMP1 [HugePedia]
snp3D : Map Gene to Disease649
BioCentury BCIQBMP1
ClinGenBMP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD649
Chemical/Pharm GKB GenePA25377
Clinical trialBMP1
Miscellaneous
canSAR (ICR)BMP1 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMP1
EVEXBMP1
GoPubMedBMP1
iHOPBMP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:59:21 CEST 2017

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