데스모글린-1

DSG1
식별자
에일리어스	DSG1, CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1, desmoglein 1
외부 ID	OMIM: 125670 MGI: 2664357 HomoloGene: 1463 GeneCard: DSG1
유전자 위치(인간)
크르.	18번 염색체(인간)
끝.	31,359,246 bp
유전자 위치(마우스)
크르.	18번 염색체(쥐)
끝.	20,543,253 bp
RNA발현패턴
	상단 표시 위치:
	외음부; ; 니플; ; 인간의 음경; ; 복부 피부; ; 모낭; ; 잇몸; ; 자궁경부상피; ; 구강; ; 설체; ; 식도 상피;
	상단 표시 위치:
	식도; ; 입술; ; 피부대; ; 정자질; ; 고환; ; 배; ; 정자 세포; ; 흉선; ; 사지; ; 신경계;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	칼슘 이온 결합; 감마카테닌결합; 금속 이온 결합; 단백질 결합; 독성 물질 결합;
셀룰러 컴포넌트	막의 적분 성분; 세포; 외측 혈장막; 막; 세포-세포 접합; 혈장막; 데스모솜; 세포 접합; 꼭대기 플라즈마막; 혈장막세포질측; 각질 봉투; 피콜린1이 풍부한 과립막;
생물학적 과정	혈장막세포접착분자를통한칼슘의존성세포접착; 여성 임신과 관련된 모성 과정; 프로게스테론에 대한 반응; 단백질 안정화; 세포 접착; 세포접합조립체; 혈장막 접착 분자에 의한 호모세포 접착; 케라티네이션; 호중구 탈과립; 옥수수화; 세포 접착;
	출처:아미고 / QuickGO
맞춤법
	1828
	225256
	ENSG00000134760
	ENSMUSG000061928
	Q02413
	Q7TSF1
	NM_001942
	NM_181682
	NP_001933
	NP_859010
	위키데이터
인간 보기/편집	마우스 표시/편집

데스모글린-1은 인간에서 DSG1 유전자에 ^[5]^[6]의해 암호화되는 단백질이다.데스모글린-1은 피부 표피 곳곳에 발현되지만 주로 피부 표피의 ^[7]표피 상층에 발현된다.

기능.

데스모솜은 상피, 심근 및 특정 다른 세포 유형 사이의 세포 접합부이다.데스모글린-1은 척추동물 상피세포 중 데스모솜의 칼슘결합성 막간당단백질 성분이다.현재 4개의 데스모글린 서브패밀리가 확인되었으며 모두 카드헤린 세포 접착 분자 슈퍼패밀리의 멤버이다.이 데스모글린 유전자 패밀리는 18번 염색체의 클러스터에 위치해 있다.이 유전자에 의해 코드된 단백질은 자가면역성 피부 수포성 ^[6]질환인 펨피거스폴리아세우스의 자가항원으로 확인되었다.자가면역 IgG/IgA 항체 매개 ^[8]반응인 IgG/IgA 펨피거스와 관련된 대부분의 경우 데스모글린-1이 표적 항원인 것으로 밝혀졌다.데스모글린-1은 또한 포도상구균 피부증후군(SSSS) 병태학에 기여하는 포도상구균 엑소톡신 A 및 B의 대상이다.

데스모글린-1 단백질의 결핍은 알레르기 관련 사이토카인을 ^[9]코드하는 여러 유전자의 발현 증가와 관련이 있는 것으로 밝혀졌다.데스모글린-1은 불충분하고 유전자의 돌연변이는 상염색체 우성돌연변이 손바닥 각질피질의 줄무늬를 ^[10]일으킬 수 있다.최근,^[when?] 데스모글린-1 유전자의 호모 접합 상실이 심각한 피부염, 다발성 알레르기, 그리고 신진대사 ^[11]소모와 같은 SAM 증후군으로 알려진 희귀한 증후군을 야기한 사례가 발생하고 있다.

상호 작용

데스모글린-1은 PKP3,^[12] PKP2,^[13] PTPRT(PTPrho)^[14]와 상호작용하는 것으로 나타났습니다.

「」를 참조해 주세요.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000134760 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000061928 - 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.
^ Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (July 1991). "Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)". Genomics. 10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID 1889810.
^ ^a ^b "Entrez Gene: DSG1 desmoglein 1".
^ Beigi, Pooya Khan Mohammad (2018). "Background". A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.
^ Journal der Deutschen Dermatologischen Gesellschaft. 4 (7). July 2006. doi:10.1111/ddg.2006.4.issue-7. ISSN 1610-0379.{{cite journal}}: CS1 유지보수 : 제목 없는 정기 (링크)
^ Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (October 2013). "Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting". Nature Genetics. 45 (10): 1244–1248. doi:10.1038/ng.2739. PMC 3791825. PMID 23974871.
^ Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L (January 2015). "Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies". The British Journal of Dermatology. 172 (1): 257–61. doi:10.1111/bjd.13247. PMID 25041099. S2CID 42320016.
^ McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD (November 2015). "Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin". The Journal of Allergy and Clinical Immunology. 136 (5): 1268–76. doi:10.1016/j.jaci.2015.05.002. PMC 4649901. PMID 26073755.
^ Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F (April 2003). "Defining desmosomal plakophilin-3 interactions". The Journal of Cell Biology. 161 (2): 403–16. doi:10.1083/jcb.200303036. PMC 2172904. PMID 12707304.
^ Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". The Journal of Biological Chemistry. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
^ Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A (October 2006). "Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT)". Brain Research. 1116 (1): 50–7. doi:10.1016/j.brainres.2006.07.122. PMID 16973135. S2CID 23343123.

추가 정보

Amagai M (February 2003). "Desmoglein as a target in autoimmunity and infection". Journal of the American Academy of Dermatology. 48 (2): 244–52. doi:10.1067/mjd.2003.7. PMID 12582396.
Wheeler GN, Parker AE, Thomas CL, Ataliotis P, Poynter D, Arnemann J, Rutman AJ, Pidsley SC, Watt FM, Rees DA (June 1991). "Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules". Proceedings of the National Academy of Sciences of the United States of America. 88 (11): 4796–800. Bibcode:1991PNAS...88.4796W. doi:10.1073/pnas.88.11.4796. PMC 51753. PMID 1711210.
Amagai M, Klaus-Kovtun V, Stanley JR (November 1991). "Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion". Cell. 67 (5): 869–77. doi:10.1016/0092-8674(91)90360-B. PMID 1720352. S2CID 21647774.
Martínez RD (1992). "[Characterization of the desmoglein in renal cells in culture]" [Characterization of the desmoglein in renal cells in culture]. Revista Alergia Mexico (in Spanish). 38 (2): 59–64. PMID 1754823.
Nilles LA, Parry DA, Powers EE, Angst BD, Wagner RM, Green KJ (August 1991). "Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome". Journal of Cell Science. 99 ( Pt 4) (4): 809–21. doi:10.1242/jcs.99.4.809. PMID 1770008.
Roh JY, Stanley JR (May 1995). "Plakoglobin binding by human Dsg3 (pemphigus vulgaris antigen) in keratinocytes requires the cadherin-like intracytoplasmic segment". The Journal of Investigative Dermatology. 104 (5): 720–4. doi:10.1111/1523-1747.ep12606963. PMID 7738346.
Simrak D, Cowley CM, Buxton RS, Arnemann J (January 1995). "Tandem arrangement of the closely linked desmoglein genes on human chromosome 18". Genomics. 25 (2): 591–4. doi:10.1016/0888-7543(95)80067-V. PMID 7790000.
Wang Y, Amagai M, Minoshima S, Sakai K, Green KJ, Nishikawa T, Shimizu N (April 1994). "The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12". Genomics. 20 (3): 492–5. doi:10.1006/geno.1994.1207. PMID 8034325.
Schäfer S, Koch PJ, Franke WW (April 1994). "Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins". Experimental Cell Research. 211 (2): 391–9. doi:10.1006/excr.1994.1103. PMID 8143788.
Adams MJ, Reichel MB, King IA, Marsden MD, Greenwood MD, Thirlwell H, Arnemann J, Buxton RS, Ali RR (January 1998). "Characterization of the regulatory regions in the human desmoglein genes encoding the pemphigus foliaceous and pemphigus vulgaris antigens". The Biochemical Journal. 329 ( Pt 1) (Pt 1): 165–74. doi:10.1042/bj3290165. PMC 1219028. PMID 9405290.
Marcozzi C, Burdett ID, Buxton RS, Magee AI (February 1998). "Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion". Journal of Cell Science. 111 ( Pt 4) (4): 495–509. doi:10.1242/jcs.111.4.495. PMID 9443898.
Smith EA, Fuchs E (June 1998). "Defining the interactions between intermediate filaments and desmosomes". The Journal of Cell Biology. 141 (5): 1229–41. doi:10.1083/jcb.141.5.1229. PMC 2137181. PMID 9606214.
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS (June 1999). "N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma". Human Molecular Genetics. 8 (6): 971–6. doi:10.1093/hmg/8.6.971. PMID 10332028.
Li G, Schaider H, Satyamoorthy K, Hanakawa Y, Hashimoto K, Herlyn M (December 2001). "Downregulation of E-cadherin and Desmoglein 1 by autocrine hepatocyte growth factor during melanoma development". Oncogene. 20 (56): 8125–35. doi:10.1038/sj.onc.1205034. PMID 11781826.
Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". The Journal of Biological Chemistry. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
Martel P, Gilbert D, Busson M, Loiseau P, Lepage V, Drouot L, Delaporte E, Prost C, Joly P, Charron D, Tron F (June 2002). "Epistasis between DSG1 and HLA class II genes in pemphigus foliaceus". Genes and Immunity. 3 (4): 205–10. doi:10.1038/sj.gene.6363839. PMID 12058255.
Hanakawa Y, Schechter NM, Lin C, Garza L, Li H, Yamaguchi T, Fudaba Y, Nishifuji K, Sugai M, Amagai M, Stanley JR (July 2002). "Molecular mechanisms of blister formation in bullous impetigo and staphylococcal scalded skin syndrome". The Journal of Clinical Investigation. 110 (1): 53–60. doi:10.1172/JCI15766. PMC 151035. PMID 12093888.
Hanakawa Y, Amagai M, Shirakata Y, Yahata Y, Tokumaru S, Yamasaki K, Tohyama M, Sayama K, Hashimoto K (December 2002). "Differential effects of desmoglein 1 and desmoglein 3 on desmosome formation". The Journal of Investigative Dermatology. 119 (6): 1231–6. doi:10.1046/j.1523-1747.2002.19648.x. PMID 12485422.

인간 염색체 18번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000134760 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000061928 - 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.

[pmid1889810-5] Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (July 1991). "Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)". Genomics. 10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID 1889810.

[entrez-6] "Entrez Gene: DSG1 desmoglein 1".

[7] Beigi, Pooya Khan Mohammad (2018). "Background". A Clinician's Guide to Pemphigus Vulgaris. Springer, Cham. pp. 3–10. doi:10.1007/978-3-319-67759-0_1. ISBN 9783319677583.

[8] Journal der Deutschen Dermatologischen Gesellschaft. 4 (7). July 2006. doi:10.1111/ddg.2006.4.issue-7. ISSN 1610-0379.{{cite journal}}: CS1 유지보수 : 제목 없는 정기 (링크)

[9] Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (October 2013). "Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting". Nature Genetics. 45 (10): 1244–1248. doi:10.1038/ng.2739. PMC 3791825. PMID 23974871.

[10] Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L (January 2015). "Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies". The British Journal of Dermatology. 172 (1): 257–61. doi:10.1111/bjd.13247. PMID 25041099. S2CID 42320016.

[11] McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD (November 2015). "Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin". The Journal of Allergy and Clinical Immunology. 136 (5): 1268–76. doi:10.1016/j.jaci.2015.05.002. PMC 4649901. PMID 26073755.

[pmid12707304-12] Bonné S, Gilbert B, Hatzfeld M, Chen X, Green KJ, van Roy F (April 2003). "Defining desmosomal plakophilin-3 interactions". The Journal of Cell Biology. 161 (2): 403–16. doi:10.1083/jcb.200303036. PMC 2172904. PMID 12707304.

[pmid11790773-13] Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". The Journal of Biological Chemistry. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.

[pmid16973135-14] Besco JA, Hooft van Huijsduijnen R, Frostholm A, Rotter A (October 2006). "Intracellular substrates of brain-enriched receptor protein tyrosine phosphatase rho (RPTPrho/PTPRT)". Brain Research. 1116 (1): 50–7. doi:10.1016/j.brainres.2006.07.122. PMID 16973135. S2CID 23343123.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

Search

데스모글린-1

네임스페이스

더

목차

기능.

상호 작용

「」를 참조해 주세요.

레퍼런스

추가 정보

Search

데스모글린-1

기능.

상호 작용

「 」를 참조해 주세요.

레퍼런스

추가 정보

「」를 참조해 주세요.