RLN1 relaxin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RLN1provided by HGNC
Official Full Name: relaxin 1provided by HGNC
Primary source: HGNC:HGNC:10026
See related: Ensembl:ENSG00000107018 MIM:179730; AllianceGenome:HGNC:10026
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: H1; H1RLX; RLXH1; bA12D24.3.1; bA12D24.3.2
Summary: Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]
Expression: Biased expression in prostate (RPKM 8.0) and testis (RPKM 0.2) See more
Orthologs: all
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Genomic context

Location:: 9p24.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (5334930..5340916, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (5340023..5345993, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (5334930..5339876, 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?

Results indicate that serum relaxin may be a clinically useful indicator for diagnostic and prognostic evaluation in epithelial ovarian cancer (EOC) patients.
Title: Serum relaxin as a diagnostic and prognostic marker in patients with epithelial ovarian cancer.
down-regulated in cord blood by prenatal smoking
Title: Evidence of altered brain regulatory gene expression in tobacco-exposed fetuses.
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 digestive tract has been shown to express relaxin receptors; the hormone appears to exert site-specific effects acting at the neural or at the smooth muscle level, mainly by a nitric oxide-mediated mechanism. (Review)
Title: Site-related Effects of Relaxin in the Gastrointestinal Tract Through Nitric Oxide Signalling: An Updated Report.
a novel fusion transcript comprising the RLN1 and RLN2 genes, was identified.
Title: Identification of a novel fusion transcript between human relaxin-1 (RLN1) and human relaxin-2 (RLN2) in prostate cancer.
Although serum relaxin level is not a causative factor for benign hypermobility syndrome, the significant increases in patients with hyperkyphosis and pes planus suggest the hypothesis that relaxin has a limited and indefinite role in patients with BJHS.
Title: Serum relaxin levels in benign hypermobility syndrome.
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.
Rln enhanced synergistically BMP-2-induced osteoblast differentiation and bone formation.
Title: Relaxin augments BMP-2-induced osteoblast differentiation and bone formation.
For the first time, we bring together the systemic (ovarian) and autocrine/paracrine (intrauterine) sources of RLN, in an attempt to understand how RLN contributes to premature birth in women.
Title: Relaxin and preterm birth.
Relaxin actions in pregnancy include increasing cervical pro-MMP-1 and pro-MMP-3 and decreasing TIMP-1, changes which soften the cervix.
Title: Relaxin and the control of primate parturition.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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

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

GDB:181543 (e-PCR)
- UniSTS:155269

RLN1_1534 (e-PCR)
- UniSTS:277674

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 female pregnancy	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: prorelaxin H1

Names: preprorelaxin H1

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_006911.4 → NP_008842.1 prorelaxin H1 preproprotein

See identical proteins and their annotated locations for NP_008842.1

Status: REVIEWED

Source sequence(s)

AI363233, AL135786, AV742436, BC005956

Consensus CDS

CCDS6462.1

UniProtKB/Swiss-Prot

P04808, Q9UQJ1

Related

ENSP00000223862.1, ENST00000223862.2

Conserved Domains (1) summary

cd04365
Location:31 → 185

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), ...