INSL3

Insulin-like 3 (Leydig cell)
PDB rendering based on 2h8b.
Available structures PDB 2H8B, 2K6T, 2K6U
Identifiers
Symbols	INSL3; MGC119818; MGC119819; RLF; RLNL
External IDs	OMIM: 146738 MGI: 108427 HomoloGene: 4048 GeneCards: INSL3 Gene
Gene Ontology Molecular function • G-protein-coupled receptor binding • signal transducer activity • receptor binding • insulin receptor binding • hormone activity Cellular component • extracellular region • extracellular region • extracellular space • soluble fraction • perinuclear region of cytoplasm Biological process • oocyte maturation • in utero embryonic development • signal transduction • inhibition of adenylate cyclase activity by G-protein signaling pathway • cell-cell signaling • spermatogenesis • positive regulation of cell proliferation • negative regulation of cell proliferation • male gonad development • positive regulation of cAMP biosynthetic process • negative regulation of apoptosis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3640	16336
Ensembl	ENSG00000248099	ENSMUSG00000079019
UniProt	P51460	n/a
RefSeq (mRNA)	NM_005543	NM_013564.6
RefSeq (protein)	NP_005534	NP_038592.3
Location (UCSC)	Chr 19: 17.93 – 17.93 Mb	Chr 8: 74.21 – 74.21 Mb
PubMed search	[1]	[2]

Insulin-like 3 is a protein that in humans is encoded by the INSL3 gene.

The protein encoded by this gene is an insulin like hormone produced mainly in gonadal tissues in males and females. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. It may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. The mutations in this gene may lead to, but not a frequent cause of, cryptorchidism.

Further reading

• Lai KS, Jin Y, Graham DK et al. (1995). "A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells". J. Biol. Chem. 270 (42): 25028–36. doi:10.1074/jbc.270.42.25028. PMID 7559633. 
• Macchi P, Villa A, Giliani S et al. (1995). "Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)". Nature 377 (6544): 65–8. doi:10.1038/377065a0. PMID 7659163. 
• Tashima LS, Hieber AD, Greenwood FC, Bryant-Greenwood GD (1995). "The human Leydig insulin-like (hLEY I-L) gene is expressed in the corpus luteum and trophoblast". J. Clin. Endocrinol. Metab. 80 (2): 707–10. doi:10.1210/jc.80.2.707. PMID 7852540. 
• Witthuhn BA, Silvennoinen O, Miura O et al. (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. doi:10.1038/370153a0. PMID 8022486. 
• Kawamura M, McVicar DW, Johnston JA et al. (1994). "Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6374–8. doi:10.1073/pnas.91.14.6374. PMC 44204. PMID 8022790. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44204. 
• Burkhardt E, Adham IM, Hobohm U et al. (1994). "A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)". Hum. Genet. 94 (1): 91–4. doi:10.1007/BF02272850. PMID 8034302. 
• Adham IM, Burkhardt E, Benahmed M, Engel W (1994). "Cloning of a cDNA for a novel insulin-like peptide of the testicular Leydig cells". J. Biol. Chem. 268 (35): 26668–72. PMID 8253799. 
• Verbsky JW, Bach EA, Fang YF et al. (1996). "Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells". J. Biol. Chem. 271 (24): 13976–80. doi:10.1074/jbc.271.24.13976. PMID 8662778. 
• Candotti F, Oakes SA, Johnston JA et al. (1997). "Structural and functional basis for JAK3-deficient severe combined immunodeficiency". Blood 90 (10): 3996–4003. PMID 9354668. 
• Bozzi F, Lefranc G, Villa A et al. (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". Br. J. Haematol. 102 (5): 1363–6. doi:10.1111/j.1365-2141.1998.tb08990.x. PMID 9753072. 
• Nef S, Parada LF (1999). "Cryptorchidism in mice mutant for Insl3". Nat. Genet. 22 (3): 295–9. doi:10.1038/10364. PMID 10391220. 
• Büllesbach EE, Rhodes R, Rembiesa B, Schwabe C (1999). "The relaxin-like factor is a hormone". Endocrine 10 (2): 167–9. doi:10.1385/ENDO:10:2:167. PMID 10451226. 
• Krausz C, Quintana-Murci L, Fellous M et al. (2000). "Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism". Mol. Hum. Reprod. 6 (4): 298–302. doi:10.1093/molehr/6.4.298. PMID 10729310. 
• Koskimies P, Virtanen H, Lindström M et al. (2000). "A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism". Pediatr. Res. 47 (4 Pt 1): 538–41. doi:10.1203/00006450-200004000-00020. PMID 10759163. 
• Endo K, Takeshita T, Kasai H et al. (2000). "STAM2, a new member of the STAM family, binding to the Janus kinases". FEBS Lett. 477 (1–2): 55–61. doi:10.1016/S0014-5793(00)01760-9. PMID 10899310. 
• Schumacher RF, Mella P, Badolato R et al. (2000). "Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism". Hum. Genet. 106 (1): 73–9. doi:10.1007/s004390051012. PMID 10982185. 
• Tomboc M, Lee PA, Mitwally MF et al. (2000). "Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism". J. Clin. Endocrinol. Metab. 85 (11): 4013–8. doi:10.1210/jc.85.11.4013. PMID 11095425. 
• Hombach-Klonisch S, Buchmann J, Sarun S et al. (2001). "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 et al. (2001). "Genetic analysis of the INSL3 gene in patients with maldescent of the testis". Eur. J. Endocrinol. 144 (2): 129–37. doi:10.1530/eje.0.1440129. PMID 11182749.