GDF5

GDF5
التراكيب المتوفرة
بنك بيانات البروتين	Ortholog search: PDBe RCSB
قائمة رموز معرفات بنك بيانات البروتين
	1WAQ, 2BHK, 3EVS, 3QB4
المعرفات
الأسماء المستعارة	GDF5, BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2, growth differentiation factor 5, DUPANS
معرفات خارجية	الوراثة المندلية البشرية عبر الإنترنت 601146 MGI: MGI:95688 HomoloGene: 468 GeneCards: 8200
علم الوجود الجيني
الوظيفة الجزيئية	• cytokine activity; • BMP binding; • ‏GO:0001948، ‏GO:0016582 ربط بروتيني; • identical protein binding; • transforming growth factor beta receptor binding; • growth factor activity; • signaling receptor binding;
المكونات الخلوية	• غشاء; • غشاء خلوي; • منطقة خارج الخلية; • خارج خلوي;
العمليات الحيوية	• regulation of apoptotic process; • ‏GO:1904089 negative regulation of neuron apoptotic process; • forelimb morphogenesis; • negative regulation of mesenchymal cell apoptotic process; • regulation of MAPK cascade; • SMAD protein signal transduction; • chondrocyte differentiation; • cell development; • regulation of multicellular organism growth; • cell-cell signaling; • positive regulation of pathway-restricted SMAD protein phosphorylation; • hindlimb morphogenesis; • chondroblast differentiation; • تَكوّن الغُضروف; • negative regulation of chondrocyte differentiation; • transmembrane receptor protein serine/threonine kinase signaling pathway; • embryonic limb morphogenesis; • positive regulation of chondrocyte differentiation; • positive regulation of neuron differentiation; • negative regulation of epithelial cell proliferation; • positive regulation of BMP signaling pathway; • transforming growth factor beta receptor signaling pathway; • response to mechanical stimulus; • ossification involved in bone remodeling; • regulation of signaling receptor activity; • regulation of SMAD protein signal transduction; • BMP signaling pathway;
	المصادر:Amigo / QuickGO
نمط التعبير عن الحمض النووي الريبوزي
	المزيد من بيانات التعبير المرجعية
أورثولوج
	P43026
	P43027
	‏NM_001319138 NM_000557، ‏NM_001319138
	NM_008109
	‏NP_001306067 NP_000548، ‏NP_001306067
	NP_032135
	ويكي بيانات
اعرض/عدّل إنسان	اعرض/عدّل فأر

GDF5‏ (Growth differentiation factor 5) هوَ بروتين يُشَفر بواسطة جين GDF5 في الإنسان.[1][2][3][3][4][5][6][7][8]

الوظيفة

المراجع

Buxton P، Edwards C، Archer C، Francis-West P (2001). "Growth/differentiation factor-5 (GDF-5) and skeletal development". J Bone Joint Surg Am. 83-A Suppl 1 ع. Pt 1: S23–30. PMID:11263662.
Polinkovsky A، Robin NH، Thomas JT، Irons M، Lynn A، Goodman FR، Reardon W، Kant SG، Brunner HG، van der Burgt I، Chitayat D، McGaughran J، Donnai D، Luyten FP، Warman ML (أكتوبر 1997). "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet. ج. 17 ع. 1: 18–9. DOI:10.1038/ng0997-18. PMID:9288091.
"Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)". مؤرشف من الأصل في 2010-12-05.
O'Keeffe G، Dockery P، Sullivan A (2004). "Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro". J Neurocytol. ج. 33 ع. 5: 479–88. DOI:10.1007/s11068-004-0511-y. PMID:15906156.
Sullivan A، O'Keeffe G (2005). "The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment". J Anat. ج. 207 ع. 3: 219–26. DOI:10.1111/j.1469-7580.2005.00447.x. PMC:1571542. PMID:16185246.
Francis-West P، Parish J، Lee K، Archer C (1999). "BMP/GDF-signalling interactions during synovial joint development". Cell Tissue Res. ج. 296 ع. 1: 111–9. DOI:10.1007/s004410051272. PMID:10199971.
Francis-West P، Abdelfattah A، Chen P، Allen C، Parish J، Ladher R، Allen S، MacPherson S، Luyten F، Archer C (1999). "Mechanisms of GDF-5 action during skeletal development". Development. ج. 126 ع. 6: 1305–15. PMID:10021348.
Thomas JT، Kilpatrick MW، Lin K، Erlacher L، Lembessis P، Costa T، Tsipouras P، Luyten FP (أكتوبر 1997). "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1". Nat Genet. ج. 17 ع. 1: 58–64. DOI:10.1038/ng0997-58. PMID:9288098.

قراءة متعمقة

Reddi AH (1997). "Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix". Matrix Biol. ج. 14 ع. 8: 599–606. DOI:10.1016/S0945-053X(05)80024-1. PMID:9057810.
Luyten FP (1998). "Cartilage-derived morphogenetic protein-1". Int. J. Biochem. Cell Biol. ج. 29 ع. 11: 1241–4. DOI:10.1016/S1357-2725(97)00025-3. PMID:9451821.
Ducy P، Karsenty G (2000). "The family of bone morphogenetic proteins". Kidney Int. ج. 57 ع. 6: 2207–14. DOI:10.1046/j.1523-1755.2000.00081.x. PMID:10844590.
Faiyaz-Ul-Haque M، Ahmad W، Wahab A، وآخرون (2003). "Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia". American Journal of Medical Genetics. ج. 111 ع. 1: 31–7. DOI:10.1002/ajmg.10501. PMID:12124730.
Chang SC، Hoang B، Thomas JT، وآخرون (1994). "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development". J. Biol. Chem. ج. 269 ع. 45: 28227–34. PMID:7961761.
Hötten G، Neidhardt H، Jacobowsky B، Pohl J (1994). "Cloning and expression of recombinant human growth/differentiation factor 5". Biochem. Biophys. Res. Commun. ج. 204 ع. 2: 646–52. DOI:10.1006/bbrc.1994.2508. PMID:7980526.
Thomas JT، Lin K، Nandedkar M، وآخرون (1996). "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member". Nat. Genet. ج. 12 ع. 3: 315–7. DOI:10.1038/ng0396-315. PMID:8589725.
Lin K، Thomas JT، McBride OW، Luyten FP (1996). "Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2". Genomics. ج. 34 ع. 1: 150–1. DOI:10.1006/geno.1996.0257. PMID:8661040.
Nishitoh H، Ichijo H، Kimura M، وآخرون (1996). "Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5". J. Biol. Chem. ج. 271 ع. 35: 21345–52. DOI:10.1074/jbc.271.35.21345. PMID:8702914.
Erlacher L، McCartney J، Piek E، وآخرون (1998). "Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis". J. Bone Miner. Res. ج. 13 ع. 3: 383–92. DOI:10.1359/jbmr.1998.13.3.383. PMID:9525338.
Sugiura T، Hötten G، Kawai S (1999). "Minimal promoter components of the human growth/differentiation factor-5 gene". Biochem. Biophys. Res. Commun. ج. 263 ع. 3: 707–13. DOI:10.1006/bbrc.1999.1445. PMID:10512744.
Aoki H، Fujii M، Imamura T، وآخرون (2001). "Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction". J. Cell Sci. ج. 114 ع. Pt 8: 1483–9. PMID:11282024.
Deloukas P، Matthews LH، Ashurst J، وآخرون (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. ج. 414 ع. 6866: 865–71. DOI:10.1038/414865a. PMID:11780052.
Faiyaz-Ul-Haque M، Ahmad W، Zaidi SH، وآخرون (2003). "Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clin. Genet. ج. 61 ع. 6: 454–8. DOI:10.1034/j.1399-0004.2002.610610.x. PMID:12121354.

بوابة الكيمياء الحيوية
بوابة طب
بوابة علم الأحياء الخلوي والجزيئي

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[1] Buxton P، Edwards C، Archer C، Francis-West P (2001). "Growth/differentiation factor-5 (GDF-5) and skeletal development". J Bone Joint Surg Am. 83-A Suppl 1 ع. Pt 1: S23–30. PMID:11263662.

[pmid9288091-2] Polinkovsky A، Robin NH، Thomas JT، Irons M، Lynn A، Goodman FR، Reardon W، Kant SG، Brunner HG، van der Burgt I، Chitayat D، McGaughran J، Donnai D، Luyten FP، Warman ML (أكتوبر 1997). "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet. ج. 17 ع. 1: 18–9. DOI:10.1038/ng0997-18. PMID:9288091.

[entrez-3] "Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)". مؤرشف من الأصل في 2010-12-05.

[4] O'Keeffe G، Dockery P، Sullivan A (2004). "Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro". J Neurocytol. ج. 33 ع. 5: 479–88. DOI:10.1007/s11068-004-0511-y. PMID:15906156.

[5] Sullivan A، O'Keeffe G (2005). "The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment". J Anat. ج. 207 ع. 3: 219–26. DOI:10.1111/j.1469-7580.2005.00447.x. PMC:1571542. PMID:16185246.

[6] Francis-West P، Parish J، Lee K، Archer C (1999). "BMP/GDF-signalling interactions during synovial joint development". Cell Tissue Res. ج. 296 ع. 1: 111–9. DOI:10.1007/s004410051272. PMID:10199971.

[7] Francis-West P، Abdelfattah A، Chen P، Allen C، Parish J، Ladher R، Allen S، MacPherson S، Luyten F، Archer C (1999). "Mechanisms of GDF-5 action during skeletal development". Development. ج. 126 ع. 6: 1305–15. PMID:10021348.

[pmid9288098-8] Thomas JT، Kilpatrick MW، Lin K، Erlacher L، Lembessis P، Costa T، Tsipouras P، Luyten FP (أكتوبر 1997). "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1". Nat Genet. ج. 17 ع. 1: 58–64. DOI:10.1038/ng0997-58. PMID:9288098.

التصنيفات الطبية	دليل الوراثة المندلية عند البشر (OMIM): 601146
المعرفات الخارجية	Ensembl Transcript ID: ENST00000374369 نظام اللغة الطبية الموحدة (UMLS CUI): C1333666