CCBE1

CCBE1
식별자
다른 이름	CCBE1, HKLLS1, collagen and calcium binding EGF domains 1
외부 ID	OMIM: 612753 MGI: 2445053 HomoloGene: 15852 GeneCards: CCBE1
유전자 위치 (인간)
염색체	18번 염색체
끝	59,697,662 bp
유전자 위치 (쥐)
염색체	18번 염색체 (쥐)
끝	66,435,812 bp
RNA 발현 패턴
	최상위 발현
	secondary oocyte; ; lower lobe of lung; ; 오른허파; ; left adrenal gland; ; germinal epithelium; ; stromal cell of endometrium; ; right adrenal gland; ; 망막색소상피세포; ; upper lobe of lung; ; 자궁목관;
	최상위 발현
	심장막; ; pericardial cavity; ; septum transversum; ; 전립샘; ; 망막색소상피세포; ; 모양체; ; 부신; ; 홍채; ; 난소; ; major salivary gland;
	추가 참조 발현 데이터
	n/a
유전자 온톨로지
분자 함수	protease binding; calcium ion binding; 단백질 결합; collagen binding;
세포 성분	세포밖공간; 콜라겐; 세포 바깥쪽; 세포외기질;
생물학적 과정	positive regulation of endothelial cell migration; multicellular organism development; positive regulation of vascular endothelial growth factor production; sprouting angiogenesis; positive regulation of lymphangiogenesis; positive regulation of protein processing; 혈관신생; positive regulation of vascular endothelial growth factor signaling pathway; venous blood vessel morphogenesis; lymphangiogenesis; positive regulation of angiogenesis; lymph vessel development; lung development; respiratory gaseous exchange by respiratory system; respiratory system process;
	출처: Amigo / QuickGO
동원체
	147372
	320924
	ENSG00000183287
	ENSMUSG00000046318
	Q6UXH8
	Q3MI99
	NM_133459
	NM_178793
	NP_597716
	NP_848908
	위키데이터
인간 보기/편집	쥐 보기/편집

콜라겐 및 칼슘 결합 EGF 도메인 함유 단백질 1(Collagen and calcium-binding EGF domain-containing protein 1)은 인간의 CCBE1 유전자에 암호화 된 단백질이다.^[5]^[6]

기능[편집]

CCBE1은 림프계의 발달과 성장을 조절자이다. CCBE1은 림프계^[7]의 주요 성장 인자인 ADAMTS3^[8]에 의한 VEGF-C의 단백질 활성화에 필요하다.

임상적 의의[편집]

제 1형 Hennekam 증후군(인간에서 일반화된 림프성 이형성증)은 CCBE1 유전자의 돌연변이와 관련이 있다.^[8]^[9]

각주[편집]

↑ ^가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000183287 - 앙상블, May 2017
↑ ^가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000046318 - 앙상블, May 2017
↑ “Human PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.
↑ “Mouse PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.
↑ “Entrez Gene: collagen and calcium binding EGF domains 1”.
↑ “Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins”. 《DNA Res.》 8 (6): 319–27. December 2001. doi:10.1093/dnares/8.6.319. PMID 11853319.
↑ Jeltsch, Michael; Kaipainen, Arja; Joukov, Vladimir; Meng, Xiaojuan; Lakso, Merja; Rauvala, Heikki; Swartz, Melody; Fukumura, Dai; Jain, Rakesh K. (1997). “Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice”. 《Science》 276 (5317): 1423–25. doi:10.1126/science.276.5317.1423. PMID 9162011.
↑ ^가 ^나 Jeltsch, Michael; Jha, Sawan Kumar; Tvorogov, Denis; Anisimov, Andrey; Leppänen, Veli-Matti; Holopainen, Tanja; Kivelä, Riikka; Ortega, Sagrario; Kärpanen, Terhi (2014). “CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation”. 《Circulation》 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.
↑ “Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans”. 《Nat. Genet.》 41 (12): 1272–4. December 2009. doi:10.1038/ng.484. PMID 19935664.

추가 자료[편집]

“Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival”. 《Br. J. Cancer》 102 (1): 87–96. 2010. doi:10.1038/sj.bjc.6605429. PMC 2813742. PMID 19935792.
“Multilocus analysis of GAW15 NARAC chromosome 18 case-control data”. 《BMC Proceedings》. 1 Suppl 1: S11. 2007. doi:10.1186/1753-6561-1-S1-S11. PMC 2367534. PMID 18466450.
“Complete sequencing and characterization of 21,243 full-length human cDNAs”. 《Nat. Genet.》 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
“Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results”. 《Arch. Gen. Psychiatry》 65 (6): 683–93. 2008. doi:10.1001/archpsyc.65.6.683. PMC 2430596. PMID 18519826.
“Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting”. 《Nat. Genet.》 41 (4): 396–8. 2009. doi:10.1038/ng.321. PMID 19287381.
“The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment”. 《Genome Res.》 13 (10): 2265–70. 2003. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
“Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. 《Proc. Natl. Acad. Sci. U.S.A.》 99 (26): 16899–903. 2002. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
“Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia” (PDF). 《Hum. Genet.》 127 (2): 231–41. 2010. doi:10.1007/s00439-009-0766-y. PMID 19911200.

[refGRCh38Ensembl-1] 가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000183287 - 앙상블, May 2017

[refGRCm38Ensembl-2] 가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000046318 - 앙상블, May 2017

[3] “Human PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.

[4] “Mouse PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.

[entrez-5] “Entrez Gene: collagen and calcium binding EGF domains 1”.

[pmid11853319-6] “Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins”. 《DNA Res.》 8 (6): 319–27. December 2001. doi:10.1093/dnares/8.6.319. PMID 11853319.

[pmid9162011-7] Jeltsch, Michael; Kaipainen, Arja; Joukov, Vladimir; Meng, Xiaojuan; Lakso, Merja; Rauvala, Heikki; Swartz, Melody; Fukumura, Dai; Jain, Rakesh K. (1997). “Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice”. 《Science》 276 (5317): 1423–25. doi:10.1126/science.276.5317.1423. PMID 9162011.

[pmid24552833-8] 가 ^나 Jeltsch, Michael; Jha, Sawan Kumar; Tvorogov, Denis; Anisimov, Andrey; Leppänen, Veli-Matti; Holopainen, Tanja; Kivelä, Riikka; Ortega, Sagrario; Kärpanen, Terhi (2014). “CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation”. 《Circulation》 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.

[pmid19935664-9] “Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans”. 《Nat. Genet.》 41 (12): 1272–4. December 2009. doi:10.1038/ng.484. PMID 19935664.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]