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UniProtKB - P51460 (INSL3_HUMAN)

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Protein

Insulin-like 3

Gene

INSL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

GO - Molecular functioni

  • hormone activity Source: UniProtKB-KW
  • insulin receptor binding Source: ProtInc
  • protease binding Source: UniProtKB
  • receptor binding Source: ProtInc
Complete GO annotation...

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • positive regulation of epithelial cell migration Source: CACAO
  • positive regulation of wound healing Source: CACAO
  • spermatogenesis Source: ProtInc
Complete GO annotation...

Keywordsi

Molecular functionHormone

Enzyme and pathway databases

ReactomeiR-HSA-418555. G alpha (s) signalling events.
R-HSA-444821. Relaxin receptors.

Names & Taxonomyi

Protein namesi
Recommended name:
Insulin-like 3
Alternative name(s):
Leydig insulin-like peptide
Short name:
Ley-I-L
Relaxin-like factor
Cleaved into the following 2 chains:
Insulin-like 3 B chain
Insulin-like 3 A chain
Gene namesi
Name:INSL3
Synonyms:RLF, RLNL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000248099.3.
HGNCiHGNC:6086. INSL3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

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:219050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01323593P → L in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894697Ensembl.1
Natural variantiVAR_013236102R → C in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894698Ensembl.1
Natural variantiVAR_017122110N → K in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs121912555Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3640.
MalaCardsiINSL3.
MIMi219050. phenotype.
OpenTargetsiENSG00000248099.
PharmGKBiPA29893.

Polymorphism and mutation databases

BioMutaiINSL3.
DMDMi317373369.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 201 PublicationAdd BLAST20
PeptideiPRO_000001614021 – 55Insulin-like 3 B chainAdd BLAST35
PropeptideiPRO_000001614158 – 104C peptide likeSequence analysisAdd BLAST47
PeptideiPRO_0000016142106 – 131Insulin-like 3 A chainAdd BLAST26

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi34 ↔ 116Interchain (between B and A chains)
Disulfide bondi46 ↔ 129Interchain (between B and A chains)
Disulfide bondi115 ↔ 120

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiP51460.
PeptideAtlasiP51460.
PRIDEiP51460.

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

BgeeiENSG00000248099.
CleanExiHS_INSL3.
HS_RLF.
ExpressionAtlasiP51460. baseline and differential.
GenevisibleiP51460. HS.

Organism-specific databases

HPAiHPA028615.

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
Complete GO annotation...

Protein-protein interaction databases

BioGridi109851. 9 interactors.
IntActiP51460. 1 interactor.
STRINGi9606.ENSP00000321724.

Structurei

Secondary structure

1131
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi36 – 46Combined sources11
Turni48 – 50Combined sources3
Helixi111 – 117Combined sources7
Helixi122 – 126Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2H8BNMR-A106-131[»]
B25-55[»]
2K6TNMR-A106-131[»]
B25-55[»]
2K6UNMR-A106-131[»]
B25-49[»]
ProteinModelPortaliP51460.
SMRiP51460.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51460.

Family & Domainsi

Sequence similaritiesi

Belongs to the insulin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J0IS. Eukaryota.
ENOG411140J. LUCA.
GeneTreeiENSGT00510000050366.
HOGENOMiHOG000113077.
HOVERGENiHBG052133.
InParanoidiP51460.
KOiK05255.
OMAiCCSGWRD.
OrthoDBiEOG091G128J.
PhylomeDBiP51460.
TreeFamiTF106361.

Family and domain databases

Gene3Di1.10.100.10. 1 hit.
InterProiView protein in InterPro
IPR016179. Insulin-like.
IPR022353. Insulin_CS.
PfamiView protein in Pfam
PF00049. Insulin. 1 hit.
SMARTiView protein in SMART
SM00078. IlGF. 1 hit.
SUPFAMiSSF56994. SSF56994. 2 hits.
PROSITEiView protein in PROSITE
PS00262. INSULIN. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative 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.

« Hide

        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
Length:131
Mass (Da):14,502
Last modified:January 11, 2011 - v2
Checksum:i94788D700524C12A
GO
Isoform 2 (identifier: P51460-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-131: RELLQWLERR...QQDLLTLCPY → QRESHSVSQA...ASVAVPNKTC

Note: No experimental confirmation available.
Show »
Length:157
Mass (Da):16,872
Checksum:i0D5CAAD5B548BC7A
GO

Sequence cautioni

The sequence CAA52017 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01323124A → G1 PublicationCorresponds to variant dbSNP:rs186828508Ensembl.1
Natural variantiVAR_01323243V → L1 Publication1
Natural variantiVAR_01323349P → 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_01323460T → A Common polymorphism. 11 PublicationsCorresponds to variant dbSNP:rs6523Ensembl.1
Natural variantiVAR_01323593P → L in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894697Ensembl.1
Natural variantiVAR_013236102R → C in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs104894698Ensembl.1
Natural variantiVAR_013237102R → H1 PublicationCorresponds to variant dbSNP:rs121912556Ensembl.1
Natural variantiVAR_017122110N → K in CRYPTO. 1 PublicationCorresponds to variant dbSNP:rs121912555Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04552664 – 131RELLQ…TLCPY → QRESHSVSQAGLKLLSSSNP PTLTFQSVGISDVSCYSGWR DDICSMGWWPTVISRWDLAC SPCPRPLTITATTVQLPPTL HATAASVAVPNKTC in isoform 2. 1 PublicationAdd BLAST68

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.
CCDSiCCDS12365.1. [P51460-1]
CCDS58655.1. [P51460-2]
PIRiB53024.
RefSeqiNP_001252516.1. NM_001265587.1. [P51460-2]
NP_005534.2. NM_005543.3. [P51460-1]
UniGeneiHs.37062.

Genome annotation databases

EnsembliENST00000317306; ENSP00000321724; ENSG00000248099. [P51460-1]
ENST00000379695; ENSP00000369017; ENSG00000248099. [P51460-2]
GeneIDi3640.
KEGGihsa:3640.
UCSCiuc002nhm.3. human. [P51460-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiINSL3_HUMAN
AccessioniPrimary (citable) accession number: P51460
Secondary accession number(s): B4DZ72
, G3XAG0, Q3KPI5, Q3KPI6, Q6YNB5, Q9UEA2, Q9UPH6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2011
Last modified: September 27, 2017
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families