호모사피엔스 종의 단백질 코딩 유전자
에프린-B1 은 인간에게 EFNB1 유전자 에 의해 암호화된 단백질 이다.[5] [6] 에프린 가문의 일원이다.인코딩된 단백질은 I형 막단백질 이며 Eph 관련 수용체 티로신 키나아제 의 리간드다. 그것은 신경계의 발달이나 유지에 있어 세포 접착 과 기능에 역할을 할 수 있다.[7]
임상적 유의성 이 단백질의 돌연변이는 대부분의 두개골전두증후군 의 원인이다.[8] [9] [10]
상호작용 EFNB1은 SDCBP 와 상호작용 하는 것으로 나타났다.[11]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG000090776 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000031217 - 앙상블 , 2017년 5월^ "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 .^ Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Muller U, Druck T, Simoneaux DK, Chelly J, Belmont JW, et al. (Jul 1995). "Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12". Genomics . 25 (1): 334–5. doi :10.1016/0888-7543(95)80156-G . PMID 7774950 . ^ Shotelersuk V, Siriwan P, Ausavarat S (Mar 2006). "A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome". Cleft Palate Craniofac J . 43 (2): 152–4. doi :10.1597/05-014.1 . PMID 16526919 . S2CID 10737616 . ^ "Entrez Gene: EFNB1 ephrin-B1" .^ Wieland I, Weidner C, Ciccone R, et al. (December 2007). "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clin. Genet . 72 (6): 506–16. doi :10.1111/j.1399-0004.2007.00905.x . PMID 17941886 . S2CID 33823266 . ^ Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO (Jun 2004). "Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome" . Proc Natl Acad Sci U S A . 101 (23): 8652–7. Bibcode :2004PNAS..101.8652T . doi :10.1073/pnas.0402819101 PMC 423250 PMID 15166289 . ^ Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P (Jun 2004). "Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome" . Am J Hum Genet . 74 (6): 1209–15. doi :10.1086/421532 . PMC 1182084 PMID 15124102 . ^ Lin, D; Gish G D; Songyang Z; Pawson T (Feb 1999). "The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif" . J. Biol. Chem . 274 (6): 3726–33. doi :10.1074/jbc.274.6.3726 ISSN 0021-9258 . PMID 9920925 . 추가 읽기 Flanagan JG, Vanderhaeghen P (1998). "The ephrins and Eph receptors in neural development". Annu. Rev. Neurosci . 21 : 309–45. doi :10.1146/annurev.neuro.21.1.309 . PMID 9530499 . S2CID 1278600 . Zhou R (1998). "The Eph family receptors and ligands". Pharmacol. Ther . 77 (3): 151–81. doi :10.1016/S0163-7258(97)00112-5 . PMID 9576626 . Holder N, Klein R (1999). "Eph receptors and ephrins: effectors of morphogenesis". Development . 126 (10): 2033–44. doi :10.1242/dev.126.10.2033 . PMID 10207129 . Wilkinson DG (2000). Eph receptors and ephrins: regulators of guidance and assembly . Int. Rev. Cytol . International Review of Cytology. Vol. 196. pp. 177–244. doi :10.1016/S0074-7696(00)96005-4 . ISBN 9780123646002 PMID 10730216 . Xu Q, Mellitzer G, Wilkinson DG (2001). "Roles of Eph receptors and ephrins in segmental patterning" . Philos. Trans. R. Soc. Lond. B Biol. Sci . 355 (1399): 993–1002. doi :10.1098/rstb.2000.0635 . PMC 1692797 PMID 11128993 . Wilkinson DG (2001). "Multiple roles of EPH receptors and ephrins in neural development". Nat. Rev. Neurosci . 2 (3): 155–64. doi :10.1038/35058515 . PMID 11256076 . S2CID 205014301 . Davis S, Gale NW, Aldrich TH, et al. (1994). "Ligands for EPH-related receptor tyrosine kinases that require membrane attachment or clustering for activity". Science . 266 (5186): 816–9. Bibcode :1994Sci...266..816D . doi :10.1126/science.7973638 . PMID 7973638 . Beckmann MP, Cerretti DP, Baum P, et al. (1994). "Molecular characterization of a family of ligands for eph-related tyrosine kinase receptors" . EMBO J . 13 (16): 3757–62. doi :10.1002/j.1460-2075.1994.tb06685.x . PMC 395287 PMID 8070404 . Cerretti DP, Lyman SD, Kozlosky CJ, et al. (1997). "The genes encoding the eph-related receptor tyrosine kinase ligands LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4, Epl4) are clustered on human chromosome 1 and mouse chromosome 3" . Genomics . 33 (2): 277–82. doi :10.1006/geno.1996.0192 . PMID 8660976 . Gale NW, Holland SJ, Valenzuela DM, et al. (1996). "Eph receptors and ligands comprise two major specificity subclasses and are reciprocally compartmentalized during embryogenesis" . Neuron . 17 (1): 9–19. doi :10.1016/S0896-6273(00)80276-7 PMID 8755474 . Böhme B, VandenBos T, Cerretti DP, et al. (1996). "Cell-cell adhesion mediated by binding of membrane-anchored ligand LERK-2 to the EPH-related receptor human embryonal kinase 2 promotes tyrosine kinase activity" . J. Biol. Chem . 271 (40): 24747–52. doi :10.1074/jbc.271.40.24747 PMID 8798744 . Holland SJ, Gale NW, Mbamalu G, et al. (1996). "Bidirectional signalling through the EPH-family receptor Nuk and its transmembrane ligands". Nature . 383 (6602): 722–5. Bibcode :1996Natur.383..722H . doi :10.1038/383722a0 . hdl :1807/9444 PMID 8878483 . S2CID 4349898 . Ephnomenclaturecommittee (1997). "Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee" . Cell . 90 (3): 403–4. doi :10.1016/S0092-8674(00)80500-0 PMID 9267020 . Feldman GJ, Ward DE, Lajeunie-Renier E, et al. (1998). "A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22" . Hum. Mol. Genet . 6 (11): 1937–41. doi :10.1093/hmg/6.11.1937 PMID 9302274 . Torres R, Firestein BL, Dong H, et al. (1999). "PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands" . Neuron . 21 (6): 1453–63. doi :10.1016/S0896-6273(00)80663-7 PMID 9883737 . Lin D, Gish GD, Songyang Z, Pawson T (1999). "The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif" . J. Biol. Chem . 274 (6): 3726–33. doi :10.1074/jbc.274.6.3726 PMID 9920925 . Brückner K, Pablo Labrador J, Scheiffele P, et al. (1999). "EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains" . Neuron . 22 (3): 511–24. doi :10.1016/S0896-6273(00)80706-0 PMID 10197531 .
외부 링크
안지오포에틴 CNTF EGF(ErbB)
Fgf.
FGFR1 FGFR2 고민자: 어소페르민 FGF (1 , 2(BFGF), 3 , 4 , 5 , 6 , 7 (KGF ), 8 , 9 , 10(KGF2), 17 , 18 , 22 )팔리퍼민 리피퍼민 셀퍼카티닙 스피리페르민 트라페르민 FGFR3 FGFR4 정렬되지 않음
HGF(c-Met) 인터넷 거버넌스 포럼
LNGF (p75NTR ) PDGF RET(GFL)
SCF(c-Kit) TGFβ 트르크
트르카 TrkB 고민자: 3,7-DHF 3,7,8,2'-THF 4'-DMA-7,8-DHF 7,3'-DHF 7,8-DHF 7,8,2'-THF 7,8,3'-THF 아미트립티라인 BDNF BNN-20 디옥시게두닌 디프레닐 디오스메틴 DMAQ-B1 HIOC LM22A-4 N-아세틸세로토닌 NT-3 NT-4 노르웨고닌 (5,7,8-THF) R7 R13 TDP6 TrkC
VEGF 다른이들 추가 성장 요인: 아드레노메둘린 군집 자극 요인 (대신 여기 를 참조하십시오) 결합조직성장인자(CTGF) 에프린 (A1 , A2 , A3 , A4 , A5 , B1 , B2 , B3 )Erythropoietin (대신 여기 를 참조하십시오)포도당-6-인산 이소메라아제(GPI; PGI, PHI, AMF) 글리아 성숙 계수(GMF) 간종유래성장인자(HDGF) 인터루킨 /T-세포 성장 요인 (대신 여기 참조)백혈병 억제 인자(LIF) 대식세포 자극 단백질(MSP; HLP, HGFLP) 미드킨(NEGF2) 마이그레이션 자극 계수(MSF; PRG4) 온코모둘린 뇌하수체 아데닐레이트 사이클라아제 활성화 펩타이드(PACAP) 플레오트로핀 레날라아제 트롬보포에틴 (대신 여기 를 참조)Wnt 신호 단백질 추가 성장 계수 수용체 조절기: 세레브롤리신 (네로트로핀 혼합물)
