SH2D1A

SH2D1A
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	1D1Z, 1D4T, 1D4W, 1KA6, 1KA7, 1M27
식별자
에일리어스	1A를 포함한 SH2D1A, DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/XLP, XLPD, XLPD1, SH2 도메인
외부 ID	OMIM : 300490 MGI : 1328352 HomoloGene : 1762 GenCard : SH2D1A
유전자 위치(인간)
크르.	X염색체(인간)
끝.	124,373,194 bp
유전자 위치(마우스)
크르.	X염색체(쥐)
끝.	41,440,207 bp
RNA발현패턴
	상단 표시 위치:
	흉선; ; 림프절; ; 피; ; 부록; ; 비장; ; 골수; ; 담낭; ; 골수 세포; ; 흉선; ; 천측두동맥;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	GO:0001948 단백질 결합;
셀룰러 컴포넌트	세포질; 세포;
생물학적 과정	세포신호; 세포방어반응; 선천성 면역 반응; 체액성 면역 반응; 자연 킬러 세포 매개 세포독성의 양성 조절; 적응 면역 반응; 면역계 과정; 면역 반응 조절; 신호 전달의 양성 조절;
	출처:아미고 / QuickGO
맞춤법
	4068
	20400
	ENSG00000183918
	ENSMUSG00000005696
	O60880
	O88890
	NM_002351; NM_001114937
	NM_011364; NM_001313688; NM_001313689; NM_001313691
	NP_001108409; NP_002342
	NP_001300617; NP_001300618; NP_001300620; NP_035494
	위키데이터
인간 보기/편집	마우스 표시/편집

SH2 도메인 함유 단백질 1A는 SH2D1A ^[5]^[6]^[7]유전자에 의해 인간에서 암호화되는 단백질이다.그것은 종종 SLAM 관련 단백질(SLAM-associated protein, 기호 SAP)이라고 불리며, 여기서 "SLAM"은 신호성 림프구 활성화 분자를 가리킨다.SLAM 시그널링에서 역할을 하는 것은 SH2 도메인을 포함하는 분자(이러한 분자군의 일부)이다.추정 기능은 Fyn 및 포스파타아제 경쟁제품에 대한 어댑터로서 SLAM 패밀리 기능의 변조를 초래합니다.SAP는 자가면역에 ^[8]관여하고 있으며, 그 돌연변이는 X-연관 림프증식성 질환과 관련되어 있다.이 유전자의 질병을 일으키는 변이가 적어도 32개 발견되었다.^[9]

상호 작용

SH2D1A는 다음과 상호작용하는 것으로 나타났습니다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000183918 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000005696 - 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.
^ Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR (Oct 1998). "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene". Nature Genetics. 20 (2): 129–35. doi:10.1038/2424. PMID 9771704. S2CID 9347438.
^ Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C (Oct 1998). "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM". Nature. 395 (6701): 462–9. Bibcode:1998Natur.395..462S. doi:10.1038/26683. PMID 9774102. S2CID 4324402.
^ "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)".
^ Menard M, et al. (2014). "Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance". Journal of Allergy and Clinical Immunology. 133 (4): 1149–1161. doi:10.1016/j.jaci.2013.10.051. PMC 4077428. PMID 24373350.
^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
^ Tangye SG, Nichols KE, Hare NJ, van de Weerdt BC (Sep 2003). "Functional requirements for interactions between CD84 and Src homology 2 domain-containing proteins and their contribution to human T cell activation". Journal of Immunology. 171 (5): 2485–95. doi:10.4049/jimmunol.171.5.2485. PMID 12928397.
^ ^a ^b Sayós J, Martín M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C (Jun 2001). "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood. 97 (12): 3867–74. doi:10.1182/blood.v97.12.3867. PMID 11389028. S2CID 10530544.
^ Tangye SG, van de Weerdt BC, Avery DT, Hodgkin PD (Jun 2002). "CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2". European Journal of Immunology. 32 (6): 1640–9. doi:10.1002/1521-4141(200206)32:6<1640::AID-IMMU1640>3.0.CO;2-S. PMID 12115647.
^ ^a ^b ^c Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C (Sep 2001). "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". The Journal of Biological Chemistry. 276 (39): 36809–16. doi:10.1074/jbc.M101305200. PMID 11477068.
^ Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E (Jun 2000). "The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B". Proceedings of the National Academy of Sciences of the United States of America. 97 (13): 7470–5. Bibcode:2000PNAS...97.7470S. doi:10.1073/pnas.130193097. PMC 16569. PMID 10852966.
^ Li C, Iosef C, Jia CY, Han VK, Li SS (Feb 2003). "Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors". The Journal of Biological Chemistry. 278 (6): 3852–9. doi:10.1074/jbc.M206649200. PMID 12458214.
^ Chan B, Lanyi A, Song HK, Griesbach J, Simarro-Grande M, Poy F, Howie D, Sumegi J, Terhorst C, Eck MJ (Feb 2003). "SAP couples Fyn to SLAM immune receptors". Nature Cell Biology. 5 (2): 155–60. doi:10.1038/ncb920. PMID 12545174. S2CID 9840321.
^ Howie D, Simarro M, Sayos J, Guirado M, Sancho J, Terhorst C (Feb 2002). "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood. 99 (3): 957–65. doi:10.1182/blood.v99.3.957. PMID 11806999.

추가 정보

Sumegi J, Seemayer TA, Huang D, Davis JR, Morra M, Gross TG, Yin L, Romco G, Klein E, Terhorst C, Lanyi A (Jun 2002). "A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses". Leukemia & Lymphoma. 43 (6): 1189–201. doi:10.1080/10428190290026240. PMID 12152986. S2CID 44576367.
Engel P, Eck MJ, Terhorst C (Oct 2003). "The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease". Nature Reviews. Immunology. 3 (10): 813–21. doi:10.1038/nri1202. PMID 14523387. S2CID 1490779.
Stern MH, Soulier J, Rosenzwajg M, Nakahara K, Canki-Klain N, Aurias A, Sigaux F, Kirsch IR (Sep 1993). "MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations". Oncogene. 8 (9): 2475–83. PMID 8361760.
Skare J, Wu BL, Madan S, Pulijaal V, Purtilo D, Haber D, Nelson D, Sylla B, Grierson H, Nitowsky H (Apr 1993). "Characterization of three overlapping deletions causing X-linked lymphoproliferative disease". Genomics. 16 (1): 254–5. doi:10.1006/geno.1993.1169. PMID 8387453.
Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, Bernard A, Ferguson M, Zuo L, Snyder E, Buckler AJ, Wise C, Ashley J, Lovett M, Valentine MB, Look AT, Gerald W, Housman DE, Haber DA (Nov 1998). "Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome". Proceedings of the National Academy of Sciences of the United States of America. 95 (23): 13765–70. Bibcode:1998PNAS...9513765N. doi:10.1073/pnas.95.23.13765. PMC 24894. PMID 9811875.
Poy F, Yaffe MB, Sayos J, Saxena K, Morra M, Sumegi J, Cantley LC, Terhorst C, Eck MJ (Oct 1999). "Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition". Molecular Cell. 4 (4): 555–61. doi:10.1016/S1097-2765(00)80206-3. PMID 10549287.
Li SC, Gish G, Yang D, Coffey AJ, Forman-Kay JD, Ernberg I, Kay LE, Pawson T (Dec 1999). "Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A". Current Biology. 9 (23): 1355–62. doi:10.1016/S0960-9822(00)80080-9. PMID 10607564.
Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E (Jun 2000). "The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B". Proceedings of the National Academy of Sciences of the United States of America. 97 (13): 7470–5. Bibcode:2000PNAS...97.7470S. doi:10.1073/pnas.130193097. PMC 16569. PMID 10852966.
Benoit L, Wang X, Pabst HF, Dutz J, Tan R (Oct 2000). "Defective NK cell activation in X-linked lymphoproliferative disease". Journal of Immunology. 165 (7): 3549–53. doi:10.4049/jimmunol.165.7.3549. PMID 11034354.
Nagy N, Cerboni C, Mattsson K, Maeda A, Gogolák P, Sümegi J, Lányi A, Székely L, Carbone E, Klein G, Klein E (Nov 2000). "SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines". International Journal of Cancer. 88 (3): 439–47. doi:10.1002/1097-0215(20001101)88:3<439::AID-IJC17>3.0.CO;2-#. PMID 11054674.
Shlapatska LM, Mikhalap SV, Berdova AG, Zelensky OM, Yun TJ, Nichols KE, Clark EA, Sidorenko SP (May 2001). "CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A". Journal of Immunology. 166 (9): 5480–7. doi:10.4049/jimmunol.166.9.5480. PMID 11313386.
Sayós J, Martín M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C (Jun 2001). "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood. 97 (12): 3867–74. doi:10.1182/blood.V97.12.3867. PMID 11389028. S2CID 10530544.
Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C (Sep 2001). "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". The Journal of Biological Chemistry. 276 (39): 36809–16. doi:10.1074/jbc.M101305200. PMID 11477068.
Latour S, Gish G, Helgason CD, Humphries RK, Pawson T, Veillette A (Aug 2001). "Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product". Nature Immunology. 2 (8): 681–90. doi:10.1038/90615. PMID 11477403. S2CID 23206045.
Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A (Aug 2001). "NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease". The Journal of Experimental Medicine. 194 (3): 235–46. doi:10.1084/jem.194.3.235. PMC 2193462. PMID 11489943.
Liu A, Klein G, Bandobashi K, Klein E, Nagy N (Mar 2002). "SH2D1A expression reflects activation of T and NK cells in cord blood lymphocytes infected with EBV and treated with the immunomodulator PSK". Immunology Letters. 80 (3): 181–8. doi:10.1016/S0165-2478(01)00330-3. PMID 11803050.
Howie D, Simarro M, Sayos J, Guirado M, Sancho J, Terhorst C (Feb 2002). "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood. 99 (3): 957–65. doi:10.1182/blood.V99.3.957. PMID 11806999.
Aoukaty A, Tan R (Apr 2002). "Association of the X-linked lymphoproliferative disease gene product SAP/SH2D1A with 2B4, a natural killer cell-activating molecule, is dependent on phosphoinositide 3-kinase". The Journal of Biological Chemistry. 277 (15): 13331–7. doi:10.1074/jbc.M112029200. PMID 11815622.

예

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000183918 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG00000005696 - 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.

[pmid9771704-5] Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR (Oct 1998). "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene". Nature Genetics. 20 (2): 129–35. doi:10.1038/2424. PMID 9771704. S2CID 9347438.

[pmid9774102-6] Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C (Oct 1998). "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM". Nature. 395 (6701): 462–9. Bibcode:1998Natur.395..462S. doi:10.1038/26683. PMID 9774102. S2CID 4324402.

[entrez-7] "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)".

[8] Menard M, et al. (2014). "Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance". Journal of Allergy and Clinical Immunology. 133 (4): 1149–1161. doi:10.1016/j.jaci.2013.10.051. PMC 4077428. PMID 24373350.

[Šimčíková_2019_-_supplementary_table_S7-9] Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.

[pmid12928397-10] Tangye SG, Nichols KE, Hare NJ, van de Weerdt BC (Sep 2003). "Functional requirements for interactions between CD84 and Src homology 2 domain-containing proteins and their contribution to human T cell activation". Journal of Immunology. 171 (5): 2485–95. doi:10.4049/jimmunol.171.5.2485. PMID 12928397.

[pmid11389028-11] Sayós J, Martín M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C (Jun 2001). "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood. 97 (12): 3867–74. doi:10.1182/blood.v97.12.3867. PMID 11389028. S2CID 10530544.

[pmid12115647-12] Tangye SG, van de Weerdt BC, Avery DT, Hodgkin PD (Jun 2002). "CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2". European Journal of Immunology. 32 (6): 1640–9. doi:10.1002/1521-4141(200206)32:6<1640::AID-IMMU1640>3.0.CO;2-S. PMID 12115647.

[pmid11477068-13] Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C (Sep 2001). "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". The Journal of Biological Chemistry. 276 (39): 36809–16. doi:10.1074/jbc.M101305200. PMID 11477068.

[pmid10852966-14] Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E (Jun 2000). "The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B". Proceedings of the National Academy of Sciences of the United States of America. 97 (13): 7470–5. Bibcode:2000PNAS...97.7470S. doi:10.1073/pnas.130193097. PMC 16569. PMID 10852966.

[pmid12458214-15] Li C, Iosef C, Jia CY, Han VK, Li SS (Feb 2003). "Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors". The Journal of Biological Chemistry. 278 (6): 3852–9. doi:10.1074/jbc.M206649200. PMID 12458214.

[pmid12545174-16] Chan B, Lanyi A, Song HK, Griesbach J, Simarro-Grande M, Poy F, Howie D, Sumegi J, Terhorst C, Eck MJ (Feb 2003). "SAP couples Fyn to SLAM immune receptors". Nature Cell Biology. 5 (2): 155–60. doi:10.1038/ncb920. PMID 12545174. S2CID 9840321.

[pmid11806999-17] Howie D, Simarro M, Sayos J, Guirado M, Sancho J, Terhorst C (Feb 2002). "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood. 99 (3): 957–65. doi:10.1182/blood.v99.3.957. PMID 11806999.

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SH2D1A

네임스페이스

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상호 작용

레퍼런스

추가 정보

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