Insulin-like 3

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• insulin receptor binding Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 8253799

• protease binding Source: UniProtKB

  <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ

  • 20082125

• receptor binding Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 8020942

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway Source: Ensembl
• cell-cell signaling Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 8253799

• male gonad development Source: Ensembl
• negative regulation of apoptotic process Source: Ensembl
• negative regulation of cell proliferation Source: Ensembl
• oocyte maturation Source: Ensembl
• positive regulation of cAMP biosynthetic process Source: Ensembl
• positive regulation of cell proliferation Source: Ensembl
• positive regulation of epithelial cell migration Source: CACAO

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 23539510

• positive regulation of wound healing Source: CACAO

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 23539510

• spermatogenesis Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 8253799

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Molecular functionⁱ

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• extracellular region Source: Reactome
• extracellular space Source: Ensembl
• perinuclear region of cytoplasm Source: Ensembl

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Cryptorchidism (CRYPTO)3 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.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.
• Ref.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.
• Ref.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.

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 key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	93 – 93	1	P → L in CRYPTO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs104894697 [ dbSNP | Ensembl ].		VAR_013235
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	102 – 102	1	R → C in CRYPTO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs104894698 [ dbSNP | Ensembl ].		VAR_013236
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	110 – 110	1	N → K in CRYPTO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs121912555 [ dbSNP | Ensembl ].		VAR_017122

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Denotes the presence of an N-terminal signal peptide.</p><p><a href='../manual/signal' target='_top'>More...</a></p>Signal peptidei	1 – 20	20	1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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.			Add BLAST
<p>Describes the position and length of an active peptide in the mature protein.</p><p><a href='../manual/peptide' target='_top'>More...</a></p>Peptidei	21 – 55	35	Insulin-like 3 B chain		PRO_0000016140	Add BLAST
<p>Describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.</p><p><a href='../manual/propep' target='_top'>More...</a></p>Propeptidei	58 – 104	47	C peptide likeSequence analysis		PRO_0000016141	Add BLAST
<p>Describes the position and length of an active peptide in the mature protein.</p><p><a href='../manual/peptide' target='_top'>More...</a></p>Peptidei	106 – 131	26	Insulin-like 3 A chain		PRO_0000016142	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the positions of cysteine residues participating in disulfide bonds.</p><p><a href='../manual/disulfid' target='_top'>More...</a></p>Disulfide bondi	34 ↔ 116		Interchain (between B and A chains)
<p>Describes the positions of cysteine residues participating in disulfide bonds.</p><p><a href='../manual/disulfid' target='_top'>More...</a></p>Disulfide bondi	46 ↔ 129		Interchain (between B and A chains)
<p>Describes the positions of cysteine residues participating in disulfide bonds.</p><p><a href='../manual/disulfid' target='_top'>More...</a></p>Disulfide bondi	115 ↔ 120

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMⁱ

Proteomic databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br />Examples: <a href="/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="/uniprot/O14734#expression"><span class="caps">O14734</span></a></p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>Provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="/help/function_section">‘Function’</a> section).</p><p><a href='../manual/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• insulin receptor binding Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 8253799

• protease binding Source: UniProtKB

  <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ

  • 20082125

• receptor binding Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 8020942

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi	36 – 46	11	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2H8B
<p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni	48 – 50	3	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2H8B
<p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi	111 – 117	7	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2H8B
<p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi	122 – 126	5	Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei PDB:2H8B

3D structure databases

Miscellaneous databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)ⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.</p><p><a href='../manual/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2<p>Lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.</p><p><a href='../manual/alternative_products' target='_top'>More...</a></p> isoformsⁱ produced by alternative splicing. AlignAdd to basketAdded to basket

        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            

        10         20         30         40         50
MDPRLPAWAL VLLGPALVFA LGPAPTPEMR EKLCGHHFVR ALVRVCGGPR 
        60         70         80         90        100
WSTEARRPAT GGDQRESHSV SQAGLKLLSS SNPPTLTFQS VGISDVSCYS 
       110        120        130        140        150
GWRDDICSMG WWPTVISRWD LACSPCPRPL TITATTVQLP PTLHATAASV 

AVPNKTC                                             

<p>Reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.</p><p><a href='../manual/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	24 – 24	1	A → G.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs186828508 [ dbSNP | Ensembl ].		VAR_013231
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	43 – 43	1	V → L.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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.		VAR_013232
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	P → S Could be a rare polymorphism; identified in a male with undermasculinised genitalia and intra-abdominal testes. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs751299877 [ dbSNP | Ensembl ].		VAR_013233
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	60 – 60	1	T → A Common polymorphism. 11 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Ref.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. Corresponds to variant rs6523 [ dbSNP | Ensembl ].		VAR_013234
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	93 – 93	1	P → L in CRYPTO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs104894697 [ dbSNP | Ensembl ].		VAR_013235
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	102 – 102	1	R → C in CRYPTO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs104894698 [ dbSNP | Ensembl ].		VAR_013236
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	102 – 102	1	R → H.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs121912556 [ dbSNP | Ensembl ].		VAR_013237
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	110 – 110	1	N → K in CRYPTO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Corresponds to variant rs121912555 [ dbSNP | Ensembl ].		VAR_017122

Alternative sequence

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	64 – 131	68	RELLQ…TLCPY → QRESHSVSQAGLKLLSSSNP PTLTFQSVGISDVSCYSGWR DDICSMGWWPTVISRWDLAC SPCPRPLTITATTVQLPPTL HATAASVAVPNKTC in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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.		VSP_045526	Add BLAST

Sequence databases

Genome annotation databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityⁱ

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

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

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ