INSL6 insulin like 6 [Homo sapiens (human)] - Gene

Summary

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

Location:: 9p24.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (4991976..5185639, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (4992955..5190714, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (5163868..5185639, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

INSL6_9233 (e-PCR)
- UniSTS:468483

NoName (e-PCR)
- UniSTS:489824

NoName (e-PCR)
- UniSTS:495221

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

NG_046969.1 RefSeqGene

Range

5072..26843

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

4991976..5185639 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...