INSL3 insulin like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: INSL3provided by HGNC
Official Full Name: insulin like 3provided by HGNC
Primary source: HGNC:HGNC:6086
See related: Ensembl:ENSG00000248099 MIM:146738; AllianceGenome:HGNC:6086
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: RLF; RLNL; ley-I-L
Summary: This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Expression: Restricted expression toward testis (RPKM 240.7) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17816512..17821519, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17950620..17955630, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17927321..17932328, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The impact of acute SARS-CoV-2 on testicular function including insulin-like factor 3 (INSL3) in men with mild COVID-19: A longitudinal study.
Title: The impact of acute SARS-CoV-2 on testicular function including insulin-like factor 3 (INSL3) in men with mild COVID-19: A longitudinal study.
New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in Cutaneous T-Cell Lymphoma.
Title: New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in Cutaneous T-Cell Lymphoma.
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
Title: Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
Title: The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
Expression and Role of INSL3 in the Fetal Testis.
Title: Expression and Role of INSL3 in the Fetal Testis.
Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism.
Title: Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism.
Clinical value of INSL3 in the diagnosis and development of diabetic nephropathy.
Title: Clinical value of INSL3 in the diagnosis and development of diabetic nephropathy.
Effects of acute hCG stimulation on serum INSL3 and 25-OH vitamin D in Klinefelter syndrome.
Title: Effects of acute hCG stimulation on serum INSL3 and 25-OH vitamin D in Klinefelter syndrome.
Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3.
Title: Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3.
New theca-cell marker insulin-like factor 3 is associated with premature ovarian insufficiency.
Title: New theca-cell marker insulin-like factor 3 is associated with premature ovarian insufficiency.

Submit: New GeneRIF Correction See all GeneRIFs (83)

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

Associated conditions

Description	Tests
Cryptorchidism MedGen: C0010417 OMIM: 219050 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of insulin-like 3 (INSL3) in human primary T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70894 (e-PCR)
- UniSTS:79694

D19S992 (e-PCR)
- UniSTS:25987

NoName (e-PCR)
- UniSTS:482733

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables insulin receptor binding	TAS Traceable Author Statement more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cAMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of wound healing	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: insulin-like 3

Names: insulin-like 3 (Leydig cell); leydig insulin -like hormone; leydig insulin-like peptide; prepro-INSL3; relaxin-like factor b

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_012092.1 RefSeqGene

Range

4993..10000

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001265587.2 → NP_001252516.1 insulin-like 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_001252516.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC005952, AY082014, BC040435

Consensus CDS

CCDS58655.1

UniProtKB/Swiss-Prot

P51460

Related

ENSP00000369017.4, ENST00000379695.5

Conserved Domains (1) summary

cd04365
Location:32 → 52

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), ...
NM_005543.4 → NP_005534.2 insulin-like 3 isoform 2 precursor

See identical proteins and their annotated locations for NP_005534.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. Isoform 2 is shorter, compared to isoform 1.

Source sequence(s)

AC005952, AY082014, BC040435, BC106722

Consensus CDS

CCDS12365.1

UniProtKB/Swiss-Prot

B4DZ72, G3XAG0, P51460, Q3KPI5, Q3KPI6, Q6YNB5, Q9UEA2, Q9UPH6

Related

ENSP00000321724.6, ENST00000317306.8

Conserved Domains (1) summary

cd04365
Location:32 → 129

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), ...