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P51460

- INSL3_HUMAN

UniProt

P51460 - INSL3_HUMAN

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Protein

Insulin-like 3

Gene

INSL3

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. insulin receptor binding Source: ProtInc
  2. protease binding Source: UniProtKB
  3. receptor binding Source: ProtInc

GO - Biological processi

  1. adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway Source: Ensembl
  2. cell-cell signaling Source: ProtInc
  3. in utero embryonic development Source: Ensembl
  4. male gonad development Source: Ensembl
  5. negative regulation of apoptotic process Source: Ensembl
  6. negative regulation of cell proliferation Source: Ensembl
  7. oocyte maturation Source: Ensembl
  8. positive regulation of cAMP biosynthetic process Source: Ensembl
  9. positive regulation of cell proliferation Source: Ensembl
  10. spermatogenesis Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hormone

Enzyme and pathway databases

ReactomeiREACT_19327. G alpha (s) signalling events.
REACT_21314. 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:
Gene namesi
Name:INSL3
Synonyms:RLF, RLNL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6086. INSL3.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: Reactome
  2. extracellular space Source: Ensembl
  3. perinuclear region of cytoplasm Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Cryptorchidism (CRYPTO) [MIM:219050]: One 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.3 Publications
Note: The disease may be caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931P → L in CRYPTO. 1 Publication
Corresponds to variant rs104894697 [ dbSNP | Ensembl ].
VAR_013235
Natural varianti102 – 1021R → C in CRYPTO. 1 Publication
VAR_013236
Natural varianti110 – 1101N → K in CRYPTO. 1 Publication
VAR_017122

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi219050. phenotype.
PharmGKBiPA29893.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 20201 PublicationAdd
BLAST
Peptidei21 – 5535Insulin-like 3 B chainPRO_0000016140Add
BLAST
Propeptidei58 – 10447C peptide likeSequence AnalysisPRO_0000016141Add
BLAST
Peptidei106 – 13126Insulin-like 3 A chainPRO_0000016142Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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.
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

BgeeiP51460.
CleanExiHS_INSL3.
HS_RLF.
GenevestigatoriP51460.

Organism-specific databases

HPAiHPA028615.

Interactioni

Subunit structurei

Heterodimer of a B chain and an A chain linked by two disulfide bonds.2 Publications

Protein-protein interaction databases

BioGridi109851. 9 interactions.
STRINGi9606.ENSP00000321724.

Structurei

Secondary structure

1
131
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi36 – 4611Combined sources
Turni48 – 503Combined sources
Helixi111 – 1177Combined sources
Helixi122 – 1265Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2H8BNMR-A106-131[»]
B25-55[»]
2K6TNMR-A106-131[»]
B25-55[»]
2K6UNMR-A106-131[»]
B25-49[»]
ProteinModelPortaliP51460.
SMRiP51460. Positions 25-55, 106-131.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51460.

Family & Domainsi

Sequence similaritiesi

Belongs to the insulin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG80279.
GeneTreeiENSGT00510000050366.
HOGENOMiHOG000113077.
HOVERGENiHBG052133.
InParanoidiP51460.
OMAiCYSGWRD.
OrthoDBiEOG7P5T43.
PhylomeDBiP51460.
TreeFamiTF106361.

Family and domain databases

Gene3Di1.10.100.10. 2 hits.
InterProiIPR016179. Insulin-like.
IPR022353. Insulin_CS.
[Graphical view]
PfamiPF00049. Insulin. 1 hit.
[Graphical view]
SMARTiSM00078. IlGF. 1 hit.
[Graphical view]
SUPFAMiSSF56994. SSF56994. 2 hits.
PROSITEiPS00262. INSULIN. 1 hit.
[Graphical view]

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. Align

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 CAA52017.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241A → G.1 Publication
Corresponds to variant rs186828508 [ dbSNP | Ensembl ].
VAR_013231
Natural varianti43 – 431V → L.1 Publication
VAR_013232
Natural varianti49 – 491P → S Could be a rare polymorphism; identified in a male with undermasculinised genitalia and intra-abdominal testes. 1 Publication
VAR_013233
Natural varianti60 – 601T → A Common polymorphism. 11 Publications
Corresponds to variant rs6523 [ dbSNP | Ensembl ].
VAR_013234
Natural varianti93 – 931P → L in CRYPTO. 1 Publication
Corresponds to variant rs104894697 [ dbSNP | Ensembl ].
VAR_013235
Natural varianti102 – 1021R → C in CRYPTO. 1 Publication
VAR_013236
Natural varianti102 – 1021R → H.1 Publication
VAR_013237
Natural varianti110 – 1101N → K in CRYPTO. 1 Publication
VAR_017122

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei64 – 13168RELLQ…TLCPY → QRESHSVSQAGLKLLSSSNP PTLTFQSVGISDVSCYSGWR DDICSMGWWPTVISRWDLAC SPCPRPLTITATTVQLPPTL HATAASVAVPNKTC in isoform 2. 1 PublicationVSP_045526Add
BLAST

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.2. human. [P51460-1]
uc010ebf.2. human.

Polymorphism databases

DMDMi317373369.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 25-55, 106-131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109851. 9 interactions.
STRINGi 9606.ENSP00000321724.

Polymorphism databases

DMDMi 317373369.

Proteomic databases

PaxDbi P51460.
PRIDEi P51460.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317306 ; ENSP00000321724 ; ENSG00000248099 . [P51460-1 ]
ENST00000379695 ; ENSP00000369017 ; ENSG00000248099 . [P51460-2 ]
GeneIDi 3640.
KEGGi hsa:3640.
UCSCi uc002nhm.2. human. [P51460-1 ]
uc010ebf.2. human.

Organism-specific databases

CTDi 3640.
GeneCardsi GC19M017928.
H-InvDB HIX0014900.
HGNCi HGNC:6086. INSL3.
HPAi HPA028615.
MIMi 146738. gene.
219050. phenotype.
neXtProti NX_P51460.
PharmGKBi PA29893.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG80279.
GeneTreei ENSGT00510000050366.
HOGENOMi HOG000113077.
HOVERGENi HBG052133.
InParanoidi P51460.
OMAi CYSGWRD.
OrthoDBi EOG7P5T43.
PhylomeDBi P51460.
TreeFami TF106361.

Enzyme and pathway databases

Reactomei REACT_19327. G alpha (s) signalling events.
REACT_21314. Relaxin receptors.

Miscellaneous databases

EvolutionaryTracei P51460.
GeneWikii INSL3.
GenomeRNAii 3640.
NextBioi 14247.
PROi P51460.
SOURCEi Search...

Gene expression databases

Bgeei P51460.
CleanExi HS_INSL3.
HS_RLF.
Genevestigatori P51460.

Family and domain databases

Gene3Di 1.10.100.10. 2 hits.
InterProi IPR016179. Insulin-like.
IPR022353. Insulin_CS.
[Graphical view ]
Pfami PF00049. Insulin. 1 hit.
[Graphical view ]
SMARTi SM00078. IlGF. 1 hit.
[Graphical view ]
SUPFAMi SSF56994. SSF56994. 2 hits.
PROSITEi PS00262. INSULIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)."
    Burkhardt E., Adham I.M., Hobohm U., Murphy D., Sander C., Engel W.
    Hum. Genet. 94:91-94(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-60.
    Tissue: Testis.
  2. "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)."
    Burkhardt E., Adham I.M., Brosig B., Gastmann A., Mattei M.-G., Engel W.
    Genomics 20:13-19(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-60.
  3. "The human Leydig insulin-like (hLEY I-L) gene is expressed in the corpus luteum and trophoblast."
    Tashima L.S., Hieber A.D., Greenwood F.C., Bryant-Greenwood G.D.
    J. Clin. Endocrinol. Metab. 80:707-710(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  4. "A novel human relaxin-like factor: evidence for the evolution of new hormonal functions?"
    Lim H.N., Oakenfull E.A., Rajpert De Meyts E., Skakkebaek N.E., Hughes I.A., Hawkins J.R., Farr C.J.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-60.
    Tissue: Testis.
  6. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-60.
    Tissue: Brain.
  9. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 21-35.
  10. "INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent."
    Kumagai J., Hsu S.Y., Matsumi H., Roh J.-S., Fu P., Wade J.D., Bathgate R.A.D., Hsueh A.J.W.
    J. Biol. Chem. 277:31283-31286(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH LGR8.
  11. "Solution structure and characterization of the LGR8 receptor binding surface of insulin-like peptide 3."
    Rosengren K.J., Zhang S., Lin F., Daly N.L., Scott D.J., Hughes R.A., Bathgate R.A., Craik D.J., Wade J.D.
    J. Biol. Chem. 281:28287-28295(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 25-55 AND 106-131, SUBUNIT, DISULFIDE BONDS.
  12. "Solution structure of a conformationally restricted fully active derivative of the human relaxin-like factor."
    Bullesbach E.E., Hass M.A., Jensen M.R., Hansen D.F., Kristensen S.M., Schwabe C., Led J.J.
    Biochemistry 47:13308-13317(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 25-55 AND 106-131, SUBUNIT, DISULFIDE BONDS.
  13. "Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism."
    Krausz C., Quintana-Murci L., Fellous M., Siffroi J.P., McElreavey K.
    Mol. Hum. Reprod. 6:298-302(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-60.
  14. "Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism."
    Tomboc M., Lee P.A., Mitwally M.F., Schneck F.X., Bellinger M., Witchel S.F.
    J. Clin. Endocrinol. Metab. 85:4013-4018(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CRYPTO LEU-93, VARIANT ALA-60.
  15. "A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism."
    Koskimies P., Virtanen H., Lindstroem M., Kaleva M., Poutanen M., Huhtaniemi I., Toppari J.
    Pediatr. Res. 47:538-541(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-60.
  16. "Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism."
    Marin P., Ferlin A., Moro E., Rossi A., Bartoloni L., Rossato M., Foresta C.
    Am. J. Med. Genet. 103:348-349(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CRYPTO CYS-102, VARIANT ALA-60.
  17. "Genetic analysis of the INSL3 gene in patients with maldescent of the testis."
    Lim H.N., Raipert-de Meyts E., Skakkebaek N.E., Hawkins J.R., Hughes I.A.
    Eur. J. Endocrinol. 144:129-137(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLY-24; LEU-43; SER-49; ALA-60 AND HIS-102.
  18. "Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism."
    Marin P., Ferlin A., Moro E., Garolla A., Foresta C.
    J. Endocrinol. Invest. 24:RC13-RC15(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-60.
  19. "Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population."
    Takahashi I., Takahashi T., Komatsu M., Matsuda J., Takada G.
    Pediatr. Int. 43:256-258(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-60.
  20. "A novel mutation of the insulin-like 3 gene in patients with cryptorchidism."
    Canto P., Escudero I., Soederlund D., Nishimura E., Carranza-Lira S., Gutierrez J., Nava A., Mendez J.P.
    J. Hum. Genet. 48:86-90(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CRYPTO LYS-110.

Entry informationi

Entry nameiINSL3_HUMAN
AccessioniPrimary (citable) accession number: P51460
Secondary accession number(s): B4DZ72
, G3XAG0, Q3KPI5, Q3KPI6, Q6YNB5, Q9UEA2, Q9UPH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 136 of the entry and version 2 of the sequence. [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

External Data

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