RLN3 relaxin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RLN3provided by HGNC
Official Full Name: relaxin 3provided by HGNC
Primary source: HGNC:HGNC:17135
See related: Ensembl:ENSG00000171136 MIM:606855; AllianceGenome:HGNC:17135
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: H3; RXN3; ZINS4; insl7
Summary: This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (14028148..14031551)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (14154437..14157840)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (14138960..14142363)

Chromosome 19 - NC_000019.10 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
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?

Investigating the role of the relaxin-3/RXFP3 system in neuropsychiatric disorders and metabolic phenotypes: A candidate gene approach.
Title: Investigating the role of the relaxin-3/RXFP3 system in neuropsychiatric disorders and metabolic phenotypes: A candidate gene approach.
The putative role of the relaxin-3/RXFP3 system in clinical depression and anxiety: A systematic literature review.
Title: The putative role of the relaxin-3/RXFP3 system in clinical depression and anxiety: A systematic literature review.
Serum level of relaxin-3 hormone is an important mediator in the pathophysiological process of normal puberty being significantly decreased in males with delayed puberty.
Title: Serum relaxin-3 hormone relationship to male delayed puberty.
Therefore, we conclude that stapling of the relaxin3 B chain does not compromise its ability to activate RXFP3 and is a promising method for developing stable peptide agonists and antagonists of RXFP3 to aid relaxin-3/RXFP3 research.
Title: Hydrocarbon stapled B chain analogues of relaxin-3 retain biological activity.
the relaxin-3 B-chain C-terminus changes from the original folding-back conformation to an extended conformation during binding with RXFP3, to allow its B27Trp and B26Arg residues to interact with the Trp138 and Glu141 residues of RXFP3, respectively.
Title: Identification of hydrophobic interactions between relaxin-3 and its receptor RXFP3: implication for a conformational change in the B-chain C-terminus during receptor binding.
In a population of acute HF patients, admission relaxin serum levels were associated with clinical and echocardiographic markers of pulmonary hypertension, RV dysfunction, and overload, suggesting a role for circulating relaxin as a biomarker in this setting.
Title: Relaxin serum levels in acute heart failure are associated with pulmonary hypertension and right heart overload.
the negatively charged transmembrane aspartate residue controls activation of the relaxin-3 receptor RXFP3
Title: A negatively charged transmembrane aspartate residue controls activation of the relaxin-3 receptor RXFP3.
Relaxin-3 is a high-efficacy agonist at RXFP4 with a comparable signal transduction profile to INSL5.
Title: The actions of relaxin family peptides on signal transduction pathways activated by the relaxin family peptide receptor RXFP4.
Serum concentrations of relaxin showed a positive association to duration of gestation among women with miscarriage but no association to duration of gestation among women with spontaneous onset of labour.
Title: Physical fitness, serum relaxin and duration of gestation.
Review of research depicts the connection of relaxin-3 with phenomena such as feeding behavior, spatial memory, sleep/wake cycle or modulation of pituitary gland hormone secretion.
Title: [Relaxin-3 and relaxin family peptide receptors--from structure to functions of a newly discovered mammalian brain system].

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic 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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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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: relaxin-3

Names: insulin-like peptide 7; insulin-like peptide INSL7; prorelaxin H3

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.

mRNA and Protein(s)

NM_001311197.2 → NP_001298126.1 relaxin-3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC022098, AY358181, BC110069, BC140935

Consensus CDS

CCDS82304.1

UniProtKB/TrEMBL

K7ENX1

Related

ENSP00000467130.1, ENST00000585987.1

Conserved Domains (1) summary

cd04365
Location:31 → 55

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_080864.4 → NP_543140.1 relaxin-3 preproprotein

See identical proteins and their annotated locations for NP_543140.1

Status: REVIEWED

Description

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

Source sequence(s)

AC022098, AY358181, BC140935

Consensus CDS

CCDS12302.1

UniProtKB/Swiss-Prot

Q6UXW5, Q8WXF3

UniProtKB/TrEMBL

B2RU28

Related

ENSP00000397415.2, ENST00000431365.3

Conserved Domains (1) summary

cd04365
Location:31 → 142

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), ...