UniProtKB - P51460 (INSL3_HUMAN)
(max 400 entries)x
Your basket is currently empty. i
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
Protein
Insulin-like 3
Gene
INSL3
Organism
Homo sapiens (Human)
Status
Functioni
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.
Caution
GO - Molecular functioni
- hormone activity Source: UniProtKB-KW
- insulin receptor binding Source: ProtInc
- protease binding Source: UniProtKB
- receptor binding Source: ProtInc
GO - Biological processi
- cell-cell signaling Source: ProtInc
- G-protein coupled receptor signaling pathway Source: Reactome
- positive regulation of epithelial cell migration Source: CACAO
- positive regulation of wound healing Source: CACAO
- spermatogenesis Source: ProtInc
Keywordsi
Molecular function | Hormone |
Enzyme and pathway databases
Reactomei | R-HSA-418555 G alpha (s) signalling events R-HSA-444821 Relaxin receptors |
Names & Taxonomyi
Protein namesi | Recommended name: Insulin-like 3Alternative name(s): Leydig insulin-like peptide Short name: Ley-I-L Relaxin-like factor Cleaved into the following 2 chains: |
Gene namesi | Name:INSL3 Synonyms:RLF, RLNL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000248099.3 |
HGNCi | HGNC:6086 INSL3 |
MIMi | 146738 gene |
neXtProti | NX_P51460 |
Pathology & Biotechi
Involvement in diseasei
Cryptorchidism (CRYPTO)3 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionOne of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer.
See also OMIM:219050Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013235 | 93 | P → L in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894697Ensembl. | 1 | |
Natural variantiVAR_013236 | 102 | R → C in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894698Ensembl. | 1 | |
Natural variantiVAR_017122 | 110 | N → K in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs121912555Ensembl. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3640 |
MalaCardsi | INSL3 |
MIMi | 219050 phenotype |
OpenTargetsi | ENSG00000248099 |
PharmGKBi | PA29893 |
Polymorphism and mutation databases
BioMutai | INSL3 |
DMDMi | 317373369 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | 1 PublicationAdd BLAST | 20 | |
PeptideiPRO_0000016140 | 21 – 55 | Insulin-like 3 B chainAdd BLAST | 35 | |
PropeptideiPRO_0000016141 | 58 – 104 | C peptide likeSequence analysisAdd BLAST | 47 | |
PeptideiPRO_0000016142 | 106 – 131 | Insulin-like 3 A chainAdd BLAST | 26 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 34 ↔ 116 | Interchain (between B and A chains) | ||
Disulfide bondi | 46 ↔ 129 | Interchain (between B and A chains) | ||
Disulfide bondi | 115 ↔ 120 |
Keywords - PTMi
Cleavage on pair of basic residues, Disulfide bondProteomic databases
PaxDbi | P51460 |
PeptideAtlasi | P51460 |
PRIDEi | P51460 |
Expressioni
Tissue specificityi
Expressed in prenatal and postnatal Leydig cells. Found as well in the corpus luteum, trophoblast, fetal membranes and breast.1 Publication
Gene expression databases
Bgeei | ENSG00000248099 |
CleanExi | HS_INSL3 HS_RLF |
ExpressionAtlasi | P51460 baseline and differential |
Genevisiblei | P51460 HS |
Organism-specific databases
HPAi | HPA028615 |
Interactioni
Subunit structurei
Heterodimer of a B chain and an A chain linked by two disulfide bonds.2 Publications
GO - Molecular functioni
- hormone activity Source: UniProtKB-KW
- insulin receptor binding Source: ProtInc
- protease binding Source: UniProtKB
- receptor binding Source: ProtInc
Protein-protein interaction databases
BioGridi | 1098519 interactors. |
IntActi | P51460 1 interactor. |
STRINGi | 9606.ENSP00000321724 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 36 – 46 | Combined sources | 11 | |
Turni | 48 – 50 | Combined sources | 3 | |
Helixi | 111 – 117 | Combined sources | 7 | |
Helixi | 122 – 126 | Combined sources | 5 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2H8B | NMR | - | A | 106-131 | [»] | |
B | 25-55 | [»] | ||||
2K6T | NMR | - | A | 106-131 | [»] | |
B | 25-55 | [»] | ||||
2K6U | NMR | - | A | 106-131 | [»] | |
B | 25-49 | [»] | ||||
ProteinModelPortali | P51460 | |||||
SMRi | P51460 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P51460 |
Family & Domainsi
Sequence similaritiesi
Belongs to the insulin family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG410J0IS Eukaryota ENOG411140J LUCA |
GeneTreei | ENSGT00510000050366 |
HOGENOMi | HOG000113077 |
HOVERGENi | HBG052133 |
InParanoidi | P51460 |
KOi | K21999 |
OMAi | CCSGWRD |
OrthoDBi | EOG091G128J |
PhylomeDBi | P51460 |
TreeFami | TF106361 |
Family and domain databases
InterProi | View protein in InterPro IPR016179 Insulin-like IPR036438 Insulin-like_sf IPR022353 Insulin_CS |
Pfami | View protein in Pfam PF00049 Insulin, 1 hit |
SMARTi | View protein in SMART SM00078 IlGF, 1 hit |
SUPFAMi | SSF56994 SSF56994, 2 hits |
PROSITEi | View protein in PROSITE PS00262 INSULIN, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: P51460-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MDPRLPAWAL VLLGPALVFA LGPAPTPEMR EKLCGHHFVR ALVRVCGGPR
60 70 80 90 100
WSTEARRPAT GGDRELLQWL ERRHLLHGLV ADSNLTLGPG LQPLPQTSHH
110 120 130
HRHHRAAATN PARYCCLSGC TQQDLLTLCP Y
Sequence cautioni
The sequence CAA52017 differs from that shown. Reason: Erroneous gene model prediction.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013231 | 24 | A → G1 PublicationCorresponds to variant dbSNP:rs186828508Ensembl. | 1 | |
Natural variantiVAR_013232 | 43 | V → L1 Publication | 1 | |
Natural variantiVAR_013233 | 49 | P → S Could be a rare polymorphism; identified in a male with undermasculinised genitalia and intra-abdominal testes. 1 PublicationCorresponds to variant dbSNP:rs751299877Ensembl. | 1 | |
Natural variantiVAR_013234 | 60 | T → A Common polymorphism. 11 PublicationsCorresponds to variant dbSNP:rs6523Ensembl. | 1 | |
Natural variantiVAR_013235 | 93 | P → L in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894697Ensembl. | 1 | |
Natural variantiVAR_013236 | 102 | R → C in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894698Ensembl. | 1 | |
Natural variantiVAR_013237 | 102 | R → H1 PublicationCorresponds to variant dbSNP:rs121912556Ensembl. | 1 | |
Natural variantiVAR_017122 | 110 | N → K in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs121912555Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045526 | 64 – 131 | RELLQ…TLCPY → QRESHSVSQAGLKLLSSSNP PTLTFQSVGISDVSCYSGWR DDICSMGWWPTVISRWDLAC SPCPRPLTITATTVQLPPTL HATAASVAVPNKTC in isoform 2. 1 PublicationAdd BLAST | 68 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S72482 mRNA Translation: AAB31371.1 X73637 Genomic DNA Translation: CAA52017.1 Sequence problems. AY082014 mRNA Translation: AAL92559.1 AK302780 mRNA Translation: BAG63984.1 AC005952 Genomic DNA No translation available. AC007201 Genomic DNA Translation: AAD22740.1 CH471106 Genomic DNA Translation: EAW84635.1 BC032810 mRNA Translation: AAH32810.1 BC053345 mRNA Translation: AAH53345.1 BC071706 mRNA Translation: AAH71706.1 BC106721 mRNA Translation: AAI06722.1 BC106722 mRNA Translation: AAI06723.1 |
CCDSi | CCDS12365.1 [P51460-1] CCDS58655.1 [P51460-2] |
PIRi | B53024 |
RefSeqi | NP_001252516.1, NM_001265587.1 [P51460-2] NP_005534.2, NM_005543.3 [P51460-1] |
UniGenei | Hs.37062 |
Genome annotation databases
Ensembli | ENST00000317306; ENSP00000321724; ENSG00000248099 [P51460-1] ENST00000379695; ENSP00000369017; ENSG00000248099 [P51460-2] |
GeneIDi | 3640 |
KEGGi | hsa:3640 |
UCSCi | uc002nhm.3 human [P51460-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | INSL3_HUMAN | |
Accessioni | P51460Primary (citable) accession number: P51460 Secondary accession number(s): B4DZ72 Q9UPH6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | January 11, 2011 | |
Last modified: | February 28, 2018 | |
This is version 161 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |