CCBE1

CCBE1
식별자
다른 이름CCBE1, HKLLS1, collagen and calcium binding EGF domains 1
외부 IDOMIM: 612753 MGI: 2445053 HomoloGene: 15852 GeneCards: CCBE1
유전자 위치 (인간)
18번 염색체
염색체18번 염색체[1]
18번 염색체
CCBE1의 유전자 위치
CCBE1의 유전자 위치
자리18q21.32시작59,430,939 bp[1]
끝59,697,662 bp[1]
유전자 위치 (쥐)
18번 염색체 (쥐)
염색체18번 염색체 (쥐)[2]
18번 염색체 (쥐)
CCBE1의 유전자 위치
CCBE1의 유전자 위치
자리18|18 E1시작66,178,373 bp[2]
끝66,435,812 bp[2]
RNA 발현 패턴
Bgee
인간쥐(동원체)
최상위 발현
  • secondary oocyte

  • lower lobe of lung

  • buccal mucosa cell

  • muscle layer of sigmoid colon

  • left ovary

  • 오른허파

  • left adrenal gland

  • left adrenal cortex

  • germinal epithelium

  • stromal cell of endometrium
최상위 발현
  • 심장막

  • pericardial cavity

  • endothelial cell of lymphatic vessel

  • anterior cardinal vein

  • septum transversum

  • epithelium of lens

  • 전립샘

  • 망막색소상피세포

  • lumbar subsegment of spinal cord

  • lobe of prostate
추가 참조 발현 데이터
BioGPS
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
종인간쥐
앙트레

147372

320924

앙상블

ENSG00000183287

ENSMUSG00000046318

유니프롯

Q6UXH8

Q3MI99

RefSeq (mRNA)

NM_133459

NM_178793

RefSeq(단백질)

NP_597716

NP_848908

위치(UCSC)Chr 18: 59.43 – 59.7 MbChr 18: 66.18 – 66.44 Mb
PubMed 검색[3][4]
위키데이터
인간 보기/편집쥐 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

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

임상적 의의

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

각주

  1. ↑ 가 나 다 GRCh38: Ensembl release 89: ENSG00000183287 - 앙상블, May 2017
  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》. 
  5. ↑ “Entrez Gene: collagen and calcium binding EGF domains 1”. 
  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. 
  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. 
  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. 
  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. 

추가 자료

  • “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.