SAR1B

SAR1B
SAR1B
Protein SAR1B PDB 1f6b.png
식별자
별칭SAR1B, ADD, CMRD, GTBPB, SARA2, Ras 관련 GTPase 1B
외부 IDOMIM: 607690 MGI: 1913647 호몰로진: 90905 GeneCard: SAR1B
직교체
종인간마우스
엔트레스

51128

66397

앙상블

ENSG00000152700

ENSMUSG00000020386

유니프로트

Q9Y6B6

Q9CQC9

RefSeq(mRNA)

NM_016103
NM_001033503

NM_025535

RefSeq(단백질)

NP_001028675
NP_057187

NP_079811

위치(UCSC)Cr 5: 134.6 – 134.65MbCr 11: 51.65 – 51.68Mb
PubMed 검색[3][4]
위키다타
인간 보기/편집마우스 보기/편집

SAR1B라고도 알려진 S. 세레비시아아(S. serebisiae)는 인간에서 SAR1B 유전자에 의해 암호화된 단백질이다.[5][6]

함수

SAR1B는 작은 GTPases의 Sar1-ADP 리보실레이션 인자 계열에 속하며,[7] 코팅 단백질(COP) 코팅된 vesicle에서 단백질의 세포내 밀매를 관장한다.[8]

임상적 유의성

SAR1B 유전자의 돌연변이는 심각한 지방흡수의 자기 열성 장애인 실로믹론 보유병(일명 앤더슨병)과 관련이 있다.[9]

참조

  1. ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000152700 - 앙상블, 2017년 5월
  2. ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000020386 - 앙상블, 2017년 5월
  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: SAR1B SAR1 gene homolog B (S. cerevisiae)".
  6. ^ He H, Dai F, Yu L, She X, Zhao Y, Jiang J, Chen X, Zhao S (2002). "Identification and characterization of nine novel human small GTPases showing variable expressions in liver cancer tissues". Gene Expression. 10 (5–6): 231–42. doi:10.3727/000000002783992406. PMC 5977521. PMID 12450215.
  7. ^ Takai Y, Sasaki T, Matozaki T (January 2001). "Small GTP-binding proteins". Physiological Reviews. 81 (1): 153–208. doi:10.1152/physrev.2001.81.1.153. PMID 11152757.
  8. ^ Schekman R, Orci L (March 1996). "Coat proteins and vesicle budding". Science. 271 (5255): 1526–33. Bibcode:1996Sci...271.1526S. doi:10.1126/science.271.5255.1526. PMID 8599108. S2CID 30752342.
  9. ^ Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nature Genetics. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552. S2CID 10543077.

추가 읽기

  • Jardim DL, da Cunha AF, Duarte Ada S, dos Santos CO, Saad ST, Costa FF (May 2005). "Expression of Sara2 human gene in erythroid progenitors". Journal of Biochemistry and Molecular Biology. 38 (3): 328–33. doi:10.5483/bmbrep.2005.38.3.328. PMID 15943909.
  • Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U, Annesi G, Naik S, Meadows N, Quattrone A, Islam SA, Naoumova RP, Angelin B, Infante R, Levy E, Roy CC, Freemont PS, Scott J, Shoulders CC (May 2003). "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders". Nature Genetics. 34 (1): 29–31. doi:10.1038/ng1145. PMID 12692552. S2CID 10543077.
  • Aguglia U, Annesi G, Pasquinelli G, Spadafora P, Gambardella A, Annesi F, Pasqua AA, Cavalcanti F, Crescibene L, Bagalà A, Bono F, Oliveri RL, Valentino P, Zappia M, Quattrone A (February 2000). "Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome". Annals of Neurology. 47 (2): 260–4. doi:10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO;2-V. PMID 10665502.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.


Stub icon

인간 5번 염색체의 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.