INSL3

INSL3
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	2H8B, 2K6T, 2K6U
식별자
별칭	INSL3, RLF, RLNL, LEY-I-L, 인슐린 등 3개
외부 ID	OMIM: 146738 MGI: 108427 호몰로진: 4048 GeneCard: INSL3
유전자 위치(인간)
쳇.	19번 염색체(인간)
끝	17,821,574 bp
유전자 위치(마우스)
쳇.	8번 염색체(쥐)
끝	71,690,575 bp
RNA 표현 패턴
	표현된 상단
	고환; ; 난소의; ; 핏덩어리; ; 맹장; ; 림프절;
	추가 참조 표현식 데이터
	n/a
유전자 온톨로지
분자함수	프로테아제 결합; 신호 수용체 결합; 인슐린 수용체 결합; 호르몬 활동; G 단백질 결합 수용체 결합;
셀룰러 컴포넌트	세포외 지역; 세포외 공간;
생물학적 과정	세포 세포 신호; 상처 치유에 대한 긍정적인 규제; 상피세포이동의 긍정적인 규제; 정자생식; 신호 수용체 활성 조절; G 단백질 결합 수용체 신호 경로; 아데닐레이트 사이클라아제 인히비트 G 단백질 결합 수용체 신호 경로;
	출처:아미고 / 퀵고
직교체
	3640
	16336
	ENSG00000248099
	ENSMUSG000079019
	P51460
	O09107; Q5RL10
	NM_005543; NM_001265587
	NM_013564
	NP_001252516; NP_005534
	NP_038592
	위키다타
인간 보기/편집	마우스 보기/편집

인슐린 유사 3은 인간에게 있어 INSL3 유전자에 의해 암호화된 단백질이다.^[5]^[6]null

함수

이 유전자에 의해 암호화된 단백질은 주로 남성과 여성의 생식 조직에서 생성되는 호르몬과 같은 인슐린이다.쥐의 상대방에 대한 연구는 이 유전자가 요로체 개발과 여성 생식력에 관여할 수 있다는 것을 시사한다.INSL-3는 G단백질 결합 수용체 8(LGR8)을 활성화하여 난모세포 내 cAMP 농도 저감을 매개함으로써 엽록체 폐쇄형 난모세포의 감수성 진행을 개시한다.^[7]그것은 또한 구강내 고환하강을 매개하는 호르몬의 역할을 할 수 있다.이 유전자의 돌연변이는 암호 해독의 원인이 될 수는 있지만 자주 일어나지는 않는다.^[6]null

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000248099 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000079019 - 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.
^ Burkhardt E, Adham IM, Brosig B, Gastmann A, Mattei MG, Engel W (March 1994). "Structural organization of the porcine and human genes coding for a Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal localization of the human gene (INSL3)". Genomics. 20 (1): 13–9. doi:10.1006/geno.1994.1121. PMID 8020942.
^ ^a ^b "Entrez Gene: INSL3 insulin-like 3 (Leydig cell)".
^ Richard FJ (March 2007). "Regulation of meiotic maturation". Journal of Animal Science. 85 (13 Suppl): E4-6. doi:10.2527/jas.2006-475. PMID 17040950.

추가 읽기

Lai KS, Jin Y, Graham DK, Witthuhn BA, Ihle JN, Liu ET (October 1995). "A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells". The Journal of Biological Chemistry. 270 (42): 25028–36. doi:10.1074/jbc.270.42.25028. PMID 7559633.
Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ (September 1995). "Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)". Nature. 377 (6544): 65–8. Bibcode:1995Natur.377...65M. doi:10.1038/377065a0. PMID 7659163. S2CID 4329874.
Tashima LS, Hieber AD, Greenwood FC, Bryant-Greenwood GD (February 1995). "The human Leydig insulin-like (hLEY I-L) gene is expressed in the corpus luteum and trophoblast". The Journal of Clinical Endocrinology and Metabolism. 80 (2): 707–10. doi:10.1210/jc.80.2.707. PMID 7852540.
Witthuhn BA, Silvennoinen O, Miura O, Lai KS, Cwik C, Liu ET, Ihle JN (July 1994). "Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells". Nature. 370 (6485): 153–7. Bibcode:1994Natur.370..153W. doi:10.1038/370153a0. PMID 8022486. S2CID 11711979.
Kawamura M, McVicar DW, Johnston JA, Blake TB, Chen YQ, Lal BK, Lloyd AR, Kelvin DJ, Staples JE, Ortaldo JR (July 1994). "Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes". Proceedings of the National Academy of Sciences of the United States of America. 91 (14): 6374–8. Bibcode:1994PNAS...91.6374K. doi:10.1073/pnas.91.14.6374. PMC 44204. PMID 8022790.
Burkhardt E, Adham IM, Hobohm U, Murphy D, Sander C, Engel W (July 1994). "A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)". Human Genetics. 94 (1): 91–4. doi:10.1007/BF02272850. PMID 8034302. S2CID 11255499.
Adham IM, Burkhardt E, Benahmed M, Engel W (December 1993). "Cloning of a cDNA for a novel insulin-like peptide of the testicular Leydig cells". The Journal of Biological Chemistry. 268 (35): 26668–72. doi:10.1016/S0021-9258(19)74364-6. PMID 8253799.
Verbsky JW, Bach EA, Fang YF, Yang L, Randolph DA, Fields LE (June 1996). "Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells". The Journal of Biological Chemistry. 271 (24): 13976–80. doi:10.1074/jbc.271.24.13976. PMID 8662778.
Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A (November 1997). "Structural and functional basis for JAK3-deficient severe combined immunodeficiency". Blood. 90 (10): 3996–4003. doi:10.1182/blood.V90.10.3996. PMID 9354668.
Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F (September 1998). "Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment". British Journal of Haematology. 102 (5): 1363–6. doi:10.1111/j.1365-2141.1998.tb08990.x. PMID 9753072. S2CID 31606560.
Nef S, Parada LF (July 1999). "Cryptorchidism in mice mutant for Insl3". Nature Genetics. 22 (3): 295–9. doi:10.1038/10364. PMID 10391220. S2CID 1394181.
Büllesbach EE, Rhodes R, Rembiesa B, Schwabe C (April 1999). "The relaxin-like factor is a hormone". Endocrine. 10 (2): 167–9. doi:10.1385/ENDO:10:2:167. PMID 10451226. S2CID 27433286.
Krausz C, Quintana-Murci L, Fellous M, Siffroi JP, McElreavey K (April 2000). "Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism". Molecular Human Reproduction. 6 (4): 298–302. doi:10.1093/molehr/6.4.298. PMID 10729310.
Koskimies P, Virtanen H, Lindström M, Kaleva M, Poutanen M, Huhtaniemi I, Toppari J (April 2000). "A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism". Pediatric Research. 47 (4 Pt 1): 538–41. doi:10.1203/00006450-200004000-00020. PMID 10759163.
Endo K, Takeshita T, Kasai H, Sasaki Y, Tanaka N, Asao H, Kikuchi K, Yamada M, Chenb M, O'Shea JJ, Sugamura K (July 2000). "STAM2, a new member of the STAM family, binding to the Janus kinases". FEBS Letters. 477 (1–2): 55–61. doi:10.1016/S0014-5793(00)01760-9. PMID 10899310. S2CID 31811757.
Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD (January 2000). "Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism". Human Genetics. 106 (1): 73–9. doi:10.1007/s004390051012. PMID 10982185.
Tomboc M, Lee PA, Mitwally MF, Schneck FX, Bellinger M, Witchel SF (November 2000). "Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism". The Journal of Clinical Endocrinology and Metabolism. 85 (11): 4013–8. doi:10.1210/jc.85.11.4013. PMID 11095425.
Hombach-Klonisch S, Buchmann J, Sarun S, Fischer B, Klonisch T (December 2000). "Relaxin-like factor (RLF) is differentially expressed in the normal and neoplastic human mammary gland". Cancer. 89 (11): 2161–8. doi:10.1002/1097-0142(20001201)89:11<2161::AID-CNCR3>3.0.CO;2-K. PMID 11147585.
Lim HN, Raipert-de Meyts E, Skakkebaek NE, Hawkins JR, Hughes IA (February 2001). "Genetic analysis of the INSL3 gene in patients with maldescent of the testis". European Journal of Endocrinology. 144 (2): 129–37. doi:10.1530/eje.0.1440129. PMID 11182749.

이 단백질 관련 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000248099 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000079019 - 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.

[pmid8020942-5] Burkhardt E, Adham IM, Brosig B, Gastmann A, Mattei MG, Engel W (March 1994). "Structural organization of the porcine and human genes coding for a Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal localization of the human gene (INSL3)". Genomics. 20 (1): 13–9. doi:10.1006/geno.1994.1121. PMID 8020942.

[entrez-6] "Entrez Gene: INSL3 insulin-like 3 (Leydig cell)".

[pmid17040950-7] Richard FJ (March 2007). "Regulation of meiotic maturation". Journal of Animal Science. 85 (13 Suppl): E4-6. doi:10.2527/jas.2006-475. PMID 17040950.

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INSL3

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