BMP1

BMP1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3EDG, 3EDH
Dynodwyr
Cyfenwau	BMP1, bone morphogenetic protein 1, OI13, PCOLC, PCP, PCP2, TLD
Dynodwyr allanol	OMIM: 112264 HomoloGene: 55955 GeneCards: BMP1
Patrwm RNA pattern
	; ; ; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• calcium ion binding; • zinc ion binding; • metal ion binding; • GO:0070122 peptidase activity; • GO:0001948, GO:0016582 protein binding; • metalloendopeptidase activity; • growth factor activity; • hydrolase activity; • metallopeptidase activity; • serine-type endopeptidase activity; • cytokine activity; • identical protein binding;
Cydrannau o'r gell	• Golgi apparatus; • extracellular region; • fesigl; • extracellular space;
Prosesau biolegol	• skeletal system development; • cell differentiation; • ossification; • extracellular matrix disassembly; • proteolysis; • multicellular organism development; • cartilage development; • positive regulation of cartilage development; • cartilage condensation; • high-density lipoprotein particle assembly; • regulation of signaling receptor activity; • GO:0072468 signal transduction;
	Sources:Amigo / QuickGO
Orthologau
	649
	n/a
	ENSG00000168487
	n/a
	P13497
	n/a
NM_001199; NM_006128; NM_006129; NM_006130; NM_006131;
	NM_006132
	n/a
	NP_001190; NP_006120
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn BMP1 yw BMP1 a elwir hefyd yn BMP1 protein a Bone morphogenetic protein 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 8, band 8p21.3.^[2]

Ffeithiau sydyn Strwythurau, PDB ...

Cau

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn BMP1.

PCP
TLD
OI13
PCP2
PCOLC

Llyfryddiaeth

"Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. ". Am J Med Genet A. 2016. PMID 27576954.
"Characterization of post-translational modifications in full-length human BMP-1 confirms the presence of a rare vicinal disulfide linkage in the catalytic domain and highlights novel features of the EGF domain. ". J Proteomics. 2016. PMID 26944735.
"CCN2/CTGF expression via cellular uptake of BMP-1 is associated with reparative dentinogenesis. ". Oral Dis. 2015. PMID 25944709.
"BMP-1/tolloid-like proteinases synchronize matrix assembly with growth factor activation to promote morphogenesis and tissue remodeling. ". Matrix Biol. 2015. PMID 25701650.
"Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.". Hum Mutat. 2015. PMID 25402547.

Cyfeiriadau

[1] [1]
"Human PubMed Reference:".

[2] [2]
BMP1 - Cronfa NCBI

[2]

[1]