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    INSL6 insulin like 6 [ Homo sapiens (human) ]

    Gene ID: 11172, updated on 5-Mar-2024

    Summary

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    Official Symbol
    INSL6provided by HGNC
    Official Full Name
    insulin like 6provided by HGNC
    Primary source
    HGNC:HGNC:6089
    See related
    Ensembl:ENSG00000120210 MIM:606414; AllianceGenome:HGNC:6089
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RIF1
    Summary
    The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 6.0) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9p24.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (4991976..5185639, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (4992955..5190714, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5163868..5185639, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902113 Neighboring gene RNA terminal phosphate cyclase like 1 Neighboring gene microRNA 101-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28154 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 41 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:4984323-4985156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28156 Neighboring gene Sharpr-MPRA regulatory region 14989 Neighboring gene Janus kinase 2 Neighboring gene casein kinase 1 gamma 2 pseudogene 1 Neighboring gene MT-ATP6 pseudogene 11 Neighboring gene MT-ND5 pseudogene 36 Neighboring gene decaprenyl diphosphate synthase subunit 1 pseudogene 1 Neighboring gene MT-ND1 pseudogene 11 Neighboring gene MT-ND2 pseudogene 36 Neighboring gene MT-CO1 pseudogene 11 Neighboring gene MT-CO2 pseudogene 11 Neighboring gene MT-ND6 pseudogene 5 Neighboring gene MT-CO3 pseudogene 11 Neighboring gene MT-ND3 pseudogene 14 Neighboring gene MT-ND4L pseudogene 6 Neighboring gene MT-ND4 pseudogene 14 Neighboring gene MT-ND5 pseudogene 14 Neighboring gene transcription factor 3 pseudogene 1 Neighboring gene immunoglobulin heavy constant epsilon P2 (pseudogene) Neighboring gene INSL4 promoter region Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:5269083-5269618 Neighboring gene insulin like 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:5293254-5293796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28157 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 31 Neighboring gene relaxin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Myocardial Infarction-Induced INSL6 Decrease Contributes to Breast Cancer Progression. Zheng Y, et al. Dis Markers, 2023. PMID 36798786, Free PMC Article
    2. Identification of INSL6, a new member of the insulin family that is expressed in the testis of the human and rat. Lok S, et al. Biol Reprod, 2000 Jun. PMID 10819760
    3. Cloning of two novel mammalian paralogs of relaxin/insulin family proteins and their expression in testis and kidney. Hsu SY. Mol Endocrinol, 1999 Dec. PMID 10598589
    4. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. Asano K, et al. Nat Genet, 2009 Dec. PMID 19915573
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myocardial Infarction-Induced INSL6 Decrease Contributes to Breast Cancer Progression.
      Title: Myocardial Infarction-Induced INSL6 Decrease Contributes to Breast Cancer Progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    insulin-like peptide INSL6
    Names
    insulin-like peptide 5
    insulin-like peptide 6
    relaxin/insulin-like factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046969.1 RefSeqGene

      Range
      5072..26843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007179.3 → NP_009110.2  insulin-like peptide INSL6 precursor

      See identical proteins and their annotated locations for NP_009110.2

      Status: REVIEWED

      Source sequence(s)
      AF156094, AL161450, AW117587
      Consensus CDS
      CCDS6458.1
      UniProtKB/Swiss-Prot
      A0AVS0, Q9NS16, Q9Y581
      Related
      ENSP00000371054.3, ENST00000381641.4
      Conserved Domains (1) summary
      cd04365
      Location:161 → 192
      IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      4991976..5185639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517702.4 → XP_011516004.1  insulin-like peptide INSL6 isoform X1

      Conserved Domains (1) summary
      cl02453
      Location:29 → 54
      IlGF_like; Insulin/insulin-like growth factor/relaxin family; insulin family of proteins. Members include a number of active peptides which are evolutionary related including insulin, relaxin, prorelaxin, insulin-like growth factors I and II, mammalian Leydig ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      4992955..5190714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361877.1 → XP_054217852.1  insulin-like peptide INSL6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y581.2 GenPept UniProtKB/Swiss-Prot:Q9Y581

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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