Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 6013
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol RLN1   Gene   UCSC   Ensembl
Aliases H1, H1RLX, RLXH1, bA12D24.3.1, bA12D24.3.2
Gene name relaxin 1
Alternate names prorelaxin H1, preprorelaxin H1,
Gene location 9p24.1 (42562735: 42608012)     Exons: 11     NC_000013.11
Gene summary(Entrez) 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]
OMIM 179730

Protein Summary

Protein general information P04808  

Name: Prorelaxin H1 [Cleaved into: Relaxin B chain; Relaxin A chain]

Length: 185  Mass: 21,146

Tissue specificity: Prostate. Not expressed in placenta, decidua or ovary. {ECO

Sequence MPRLFLFHLLEFCLLLNQFSRAVAAKWKDDVIKLCGRELVRAQIAICGMSTWSKRSLSQEDAPQTPRPVAEIVPS
FINKDTETIIIMLEFIANLPPELKAALSERQPSLPELQQYVPALKDSNLSFEEFKKLIRNRQSEAADSNPSELKY
LGLDTHSQKKRRPYVALFEKCCLIGCTKRSLAKYC
Structural information
Interpro:  IPR016179 IPR036438 IPR022353 IPR022352 IPR022421
Prosite:   PS00262

Pfam:  
PF00049
STRING:   ENSP00000223862;
Other Databases GeneCards:  RLN1;  Malacards:  RLN1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005179 hormone activity
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0007165 signal transduction
NAS biological_process
GO:0007565 female pregnancy
NAS biological_process
GO:0005179 hormone activity
IEA molecular_function
GO:0005179 hormone activity
IEA molecular_function
GO:0005179 hormone activity
TAS molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0007165 signal transduction
NAS biological_process
GO:0007565 female pregnancy
NAS biological_process
GO:0005179 hormone activity
TAS molecular_function
GO:0007165 signal transduction
NAS biological_process
GO:0007565 female pregnancy
NAS biological_process

Diseases

Associated diseases References
Endometriosis PMID: 20655530
Endometriosis INFBASE20655530

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20655530 Endometrio
sis


relaxin
Show abstract