Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P51460

- INSL3_HUMAN

UniProt

P51460 - INSL3_HUMAN

Protein

Insulin-like 3

Gene

INSL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    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. 1 interaction.
    STRINGi9606.ENSP00000321724.

    Structurei

    Secondary structure

    1
    131
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi36 – 4510
    Helixi111 – 1177
    Helixi122 – 1287

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    HOGENOMiHOG000113077.
    HOVERGENiHBG052133.
    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

    MDPRLPAWAL VLLGPALVFA LGPAPTPEMR EKLCGHHFVR ALVRVCGGPR    50
    WSTEARRPAT GGDRELLQWL ERRHLLHGLV ADSNLTLGPG LQPLPQTSHH 100
    HRHHRAAATN PARYCCLSGC TQQDLLTLCP Y 131
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 1 interaction.
    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.
    HOGENOMi HOG000113077.
    HOVERGENi HBG052133.
    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

    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 1, 2014
    This is version 135 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

    Dasty 3