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Aliases for RLN1 Gene

Aliases for RLN1 Gene

  • Relaxin 1 2 3 5
  • Prorelaxin H1 2 3
  • Preprorelaxin H1 3
  • Relaxin 1 (H1) 2
  • BA12D24.3.1 3
  • BA12D24.3.2 3
  • H1RLX 3
  • RLXH1 3
  • H1 3

External Ids for RLN1 Gene

Previous GeneCards Identifiers for RLN1 Gene

  • GC09M005488
  • GC09M005316

Summaries for RLN1 Gene

Entrez Gene Summary for RLN1 Gene

  • 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]

GeneCards Summary for RLN1 Gene

RLN1 (Relaxin 1) is a Protein Coding gene. Diseases associated with RLN1 include Preterm Premature Rupture Of The Membranes. Among its related pathways are CREB Pathway and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include hormone activity. An important paralog of this gene is RLN2.

UniProtKB/Swiss-Prot for RLN1 Gene

  • Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RLN1 Gene

Genomics for RLN1 Gene

Regulatory Elements for RLN1 Gene

Enhancers for RLN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G005425 0.7 ENCODE 10.9 -85.3 -85343 0.1 CTCF ZNF654 ZMYM3 TRIM22 REST RAD21 ZKSCAN1 CBX5 RCOR2 SMC3 RLN1 INSL4 GC09M005429 RNF152P1
GH09G005339 0.5 ENCODE 0.7 +0.0 43 0.5 ZNF335 ZEB2 ZNF501 RLN2 RLN1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RLN1 on UCSC Golden Path with GeneCards custom track

Promoters for RLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232817 573 1001 ZNF335 ZEB2 ZNF501

Genomic Location for RLN1 Gene

Chromosome:
9
Start:
5,313,627 bp from pter
End:
5,339,873 bp from pter
Size:
26,247 bases
Orientation:
Minus strand

Genomic View for RLN1 Gene

Genes around RLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RLN1 Gene

Proteins for RLN1 Gene

  • Protein details for RLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04808-REL1_HUMAN
    Recommended name:
    Prorelaxin H1
    Protein Accession:
    P04808
    Secondary Accessions:
    • Q99936
    • Q9UQJ1

    Protein attributes for RLN1 Gene

    Size:
    185 amino acids
    Molecular mass:
    21146 Da
    Quaternary structure:
    • Heterodimer of a B chain and an A chain linked by two disulfide bonds.

    Alternative splice isoforms for RLN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RLN1 Gene

Post-translational modifications for RLN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RLN1 Gene

Antibody Products

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for RLN1

No data available for DME Specific Peptides for RLN1 Gene

Domains & Families for RLN1 Gene

Gene Families for RLN1 Gene

Protein Domains for RLN1 Gene

Suggested Antigen Peptide Sequences for RLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04808

UniProtKB/Swiss-Prot:

REL1_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with RLN1: view

Function for RLN1 Gene

Molecular function for RLN1 Gene

GENATLAS Biochemistry:
relaxin 1 (H1)
UniProtKB/Swiss-Prot Function:
Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.

Gene Ontology (GO) - Molecular Function for RLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
genes like me logo Genes that share ontologies with RLN1: view
genes like me logo Genes that share phenotypes with RLN1: view

Animal Models for RLN1 Gene

MGI Knock Outs for RLN1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RLN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RLN1 Gene

Localization for RLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RLN1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RLN1 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for RLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with RLN1: view

Pathways & Interactions for RLN1 Gene

genes like me logo Genes that share pathways with RLN1: view

Pathways by source for RLN1 Gene

Gene Ontology (GO) - Biological Process for RLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 6298628
GO:0007565 female pregnancy NAS 6298628
genes like me logo Genes that share ontologies with RLN1: view

No data available for SIGNOR curated interactions for RLN1 Gene

Drugs & Compounds for RLN1 Gene

(5) Drugs for RLN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for RLN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RLN1: view

Transcripts for RLN1 Gene

mRNA/cDNA for RLN1 Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RLN1 Gene

Relaxin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RLN1

Alternative Splicing Database (ASD) splice patterns (SP) for RLN1 Gene

No ASD Table

Relevant External Links for RLN1 Gene

GeneLoc Exon Structure for
RLN1
ECgene alternative splicing isoforms for
RLN1

Expression for RLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RLN1 Gene

mRNA differential expression in normal tissues according to GTEx for RLN1 Gene

This gene is overexpressed in Prostate (x28.1).

NURSA nuclear receptor signaling pathways regulating expression of RLN1 Gene:

RLN1

SOURCE GeneReport for Unigene cluster for RLN1 Gene:

Hs.368996

mRNA Expression by UniProt/SwissProt for RLN1 Gene:

P04808-REL1_HUMAN
Tissue specificity: Prostate. Not expressed in placenta, decidua or ovary.
genes like me logo Genes that share expression patterns with RLN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RLN1 Gene

Orthologs for RLN1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for RLN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RLN1 34 35
  • 96.76 (n)
rat
(Rattus norvegicus)
Mammalia Rln1 34
  • 66.67 (n)
mouse
(Mus musculus)
Mammalia Rln1 34 16 35
  • 63.75 (n)
dog
(Canis familiaris)
Mammalia RLN1 35
  • 33 (a)
OneToMany
Species where no ortholog for RLN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RLN1 Gene

ENSEMBL:
Gene Tree for RLN1 (if available)
TreeFam:
Gene Tree for RLN1 (if available)

Paralogs for RLN1 Gene

Paralogs for RLN1 Gene

(1) SIMAP similar genes for RLN1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RLN1: view

Variants for RLN1 Gene

Sequence variations from dbSNP and Humsavar for RLN1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000089856 -- 5,335,792(+) AATTT(C/T)ACCAA intron-variant
rs1000180247 -- 5,339,401(+) GCCAC(G/T)GCTGA intron-variant, nc-transcript-variant
rs1000233925 -- 5,339,734(+) CAAGA(A/C)CAGGC upstream-variant-2KB, reference, missense
rs1000238940 -- 5,308,322(+) CACTT(C/G)TTACT intron-variant
rs1000246424 -- 5,333,175(+) AATCA(A/G)CCCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RLN1 Gene

Variant ID Type Subtype PubMed ID
dgv12484n54 CNV gain+loss 21841781
dgv12485n54 CNV loss 21841781
esv2421494 OTHER complex 20811451
esv2738159 CNV deletion 23290073
esv2759660 CNV loss 17122850
esv2761296 CNV gain+loss 21179565
esv2764176 CNV gain+loss 21179565
esv3544463 CNV deletion 23714750
esv3573093 CNV loss 25503493
esv3619374 CNV loss 21293372
esv3619375 CNV gain 21293372
esv3619377 CNV loss 21293372
esv3891535 CNV loss 25118596
esv3891536 CNV loss 25118596
esv3891539 CNV loss 25118596
nsv1031627 CNV loss 25217958
nsv1161828 OTHER complex 26073780
nsv442130 CNV loss 18776908
nsv466102 CNV loss 19166990
nsv466103 CNV loss 19166990
nsv466104 CNV gain 19166990
nsv466106 CNV loss 19166990
nsv516752 CNV gain+loss 19592680
nsv527495 CNV gain 19592680
nsv613181 CNV loss 21841781
nsv613182 CNV loss 21841781
nsv613188 CNV loss 21841781
nsv613190 CNV gain 21841781
nsv613191 CNV loss 21841781
nsv613192 CNV loss 21841781
nsv818675 CNV loss 17921354
nsv824828 CNV loss 20364138
nsv831495 CNV loss 17160897

Variation tolerance for RLN1 Gene

Residual Variation Intolerance Score: 77.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RLN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RLN1 Gene

Disorders for RLN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RLN1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
preterm premature rupture of the membranes
  • preterm premature rupture of the membranes, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search RLN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RLN1

Genetic Association Database (GAD)
RLN1
Human Genome Epidemiology (HuGE) Navigator
RLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RLN1
genes like me logo Genes that share disorders with RLN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RLN1 Gene

Publications for RLN1 Gene

  1. Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth. (PMID: 20023247) Vogel I. … Grove J. (In Vivo 2009) 3 22 46 64
  2. Analysis of the 5'-upstream regions of the human relaxin H1 and H2 genes and their chromosomal localization on chromosome 9p24.1 by radiation hybrid and breakpoint mapping. (PMID: 10601981) Garibay-Tupas J.L. … Bryant-Greenwood G.D. (J. Mol. Endocrinol. 1999) 3 4 22 64
  3. Expression of human relaxin genes: characterization of a novel alternatively-spliced human relaxin mRNA species. (PMID: 8735594) Gunnersen J.M. … Tregear G.W. (Mol. Cell. Endocrinol. 1996) 3 4 22 64
  4. Human medullary thyroid carcinoma: a source and potential target for relaxin-like hormones. (PMID: 15956746) Klonisch T. … Hombach-Klonisch S. (Ann. N. Y. Acad. Sci. 2005) 3 22 64
  5. Evolution of the relaxin-like peptide family: from neuropeptide to reproduction. (PMID: 15956756) Wilkinson T.N. … Bathgate R.A. (Ann. N. Y. Acad. Sci. 2005) 3 22 64

Products for RLN1 Gene

Sources for RLN1 Gene

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