Insulin Like Protein 3 (INSL3)

RLNL; RLF; Relaxin-Like Factor,Leydig Cell; Leydig insulin-like peptide

SPN	S902
HGNC	6086
MGI	108427
PubMed	19416188
RGD	620117
UniProt	P51460
Wiki	INSL3

INSL3 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.Expressed in prenatal and postnatal Leydig cells. Found as well in the corpus luteum, trophoblast, fetal membranes and breast.Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor.

Reference

"A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)."
Hum. Genet. 94:91-94(1994) [PubMed] [Europe PMC] [Abstract]

"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 20:13-19(1994) [PubMed] [Europe PMC] [Abstract]

"The human Leydig insulin-like (hLEY I-L) gene is expressed in the corpus luteum and trophoblast."
J. Clin. Endocrinol. Metab. 80:707-710(1995) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]

"INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent."
J. Biol. Chem. 277:31283-31286(2002) [PubMed] [Europe PMC] [Abstract]

"Solution structure and characterization of the LGR8 receptor binding surface of insulin-like peptide 3."
J. Biol. Chem. 281:28287-28295(2006) [PubMed] [Europe PMC] [Abstract]

"Solution structure of a conformationally restricted fully active derivative of the human relaxin-like factor."
Biochemistry 47:13308-13317(2008) [PubMed] [Europe PMC] [Abstract]

"Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism."
Mol. Hum. Reprod. 6:298-302(2000) [PubMed] [Europe PMC] [Abstract]

"Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism."
J. Clin. Endocrinol. Metab. 85:4013-4018(2000) [PubMed] [Europe PMC] [Abstract]

"A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism."
Pediatr. Res. 47:538-541(2000) [PubMed] [Europe PMC] [Abstract]

"Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism."
Am. J. Med. Genet. 103:348-349(2001) [PubMed] [Europe PMC] [Abstract]

"Genetic analysis of the INSL3 gene in patients with maldescent of the testis."
Eur. J. Endocrinol. 144:129-137(2001) [PubMed] [Europe PMC] [Abstract]

"Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism."
J. Endocrinol. Invest. 24:RC13-RC15(2001) [PubMed] [Europe PMC] [Abstract]

"Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population."
Pediatr. Int. 43:256-258(2001) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of the insulin-like 3 gene in patients with cryptorchidism."
J. Hum. Genet. 48:86-90(2003) [PubMed] [Europe PMC] [Abstract]