REL1_HUMAN
ID REL1_HUMAN Reviewed; 185 AA.
AC P04808; Q99936; Q9UQJ1;
DT 13-AUG-1987, integrated into UniProtKB/Swiss-Prot.
DT 13-AUG-1987, sequence version 1.
DT 03-AUG-2022, entry version 193.
DE RecName: Full=Prorelaxin H1;
DE Contains:
DE RecName: Full=Relaxin B chain;
DE Contains:
DE RecName: Full=Relaxin A chain;
DE Flags: Precursor;
GN Name=RLN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=6548702; DOI=10.1002/j.1460-2075.1984.tb02135.x;
RA Hudson P., John M., Crawford R., Haralambidis J., Scanlon D., Gorman J.,
RA Tregear G., Shine J., Niall H.;
RT "Relaxin gene expression in human ovaries and the predicted structure of a
RT human preprorelaxin by analysis of cDNA clones.";
RL EMBO J. 3:2333-2339(1984).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=6298628; DOI=10.1038/301628a0;
RA Hudson P., Haley J., John M., Cronk M., Crawford R., Haralambidis J.,
RA Tregear G., Shine J., Niall H.;
RT "Structure of a genomic clone encoding biologically active human relaxin.";
RL Nature 301:628-631(1983).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Prostate;
RX PubMed=8735594; DOI=10.1016/0303-7207(96)03770-7;
RA Gunnersen J.M., Fu P., Roche P.J., Tregear G.W.;
RT "Expression of human relaxin genes: characterization of a novel
RT alternatively-spliced human relaxin mRNA species.";
RL Mol. Cell. Endocrinol. 118:85-94(1996).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
RX PubMed=10601981; DOI=10.1677/jme.0.0230355;
RA Garibay-Tupas J.L., Csiszar K., Fox M., Povey S., Bryant-Greenwood G.D.;
RT "Analysis of the 5'-upstream regions of the human relaxin H1 and H2 genes
RT and their chromosomal localization on chromosome 9p24.1 by radiation hybrid
RT and breakpoint mapping.";
RL J. Mol. Endocrinol. 23:355-365(1999).
CC -!- FUNCTION: Relaxin is an ovarian hormone that acts with estrogen to
CC produce dilatation of the birth canal in many mammals. May be involved
CC in remodeling of connective tissues during pregnancy, promoting growth
CC of pubic ligaments and ripening of the cervix.
CC -!- SUBUNIT: Heterodimer of a B chain and an A chain linked by two
CC disulfide bonds.
CC -!- INTERACTION:
CC P04808; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-12071382, EBI-5916454;
CC P04808; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-12071382, EBI-10172526;
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P04808-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P04808-2; Sequence=VSP_002709, VSP_002710;
CC -!- TISSUE SPECIFICITY: Prostate. Not expressed in placenta, decidua or
CC ovary. {ECO:0000269|PubMed:8735594}.
CC -!- SIMILARITY: Belongs to the insulin family. {ECO:0000305}.
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DR EMBL; X00949; CAA25461.1; -; mRNA.
DR EMBL; V00578; CAA23839.1; -; Genomic_DNA.
DR EMBL; V00577; CAA23838.1; -; Genomic_DNA.
DR EMBL; AL135786; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005956; AAH05956.1; -; mRNA.
DR EMBL; S83200; AAD14429.1; -; Genomic_DNA.
DR EMBL; AF104934; AAD21967.1; -; Genomic_DNA.
DR CCDS; CCDS6462.1; -. [P04808-1]
DR PIR; B05092; A44559.
DR RefSeq; NP_008842.1; NM_006911.3. [P04808-1]
DR RefSeq; XP_016870498.1; XM_017015009.1. [P04808-2]
DR AlphaFoldDB; P04808; -.
DR SMR; P04808; -.
DR BioGRID; 111945; 97.
DR IntAct; P04808; 2.
DR STRING; 9606.ENSP00000223862; -.
DR iPTMnet; P04808; -.
DR PhosphoSitePlus; P04808; -.
DR BioMuta; RLN1; -.
DR DMDM; 132280; -.
DR MassIVE; P04808; -.
DR PaxDb; P04808; -.
DR PeptideAtlas; P04808; -.
DR PRIDE; P04808; -.
DR Antibodypedia; 24129; 269 antibodies from 28 providers.
DR DNASU; 6013; -.
DR Ensembl; ENST00000223862.2; ENSP00000223862.1; ENSG00000107018.8. [P04808-1]
DR GeneID; 6013; -.
DR KEGG; hsa:6013; -.
DR MANE-Select; ENST00000223862.2; ENSP00000223862.1; NM_006911.4; NP_008842.1.
DR UCSC; uc003zjb.3; human. [P04808-1]
DR CTD; 6013; -.
DR DisGeNET; 6013; -.
DR GeneCards; RLN1; -.
DR HGNC; HGNC:10026; RLN1.
DR HPA; ENSG00000107018; Tissue enriched (prostate).
DR MIM; 179730; gene.
DR neXtProt; NX_P04808; -.
DR OpenTargets; ENSG00000107018; -.
DR PharmGKB; PA34399; -.
DR VEuPathDB; HostDB:ENSG00000107018; -.
DR eggNOG; ENOG502TH8D; Eukaryota.
DR GeneTree; ENSGT00940000154434; -.
DR HOGENOM; CLU_115657_0_0_1; -.
DR InParanoid; P04808; -.
DR OMA; KCCLIGC; -.
DR OrthoDB; 1331287at2759; -.
DR PhylomeDB; P04808; -.
DR TreeFam; TF333404; -.
DR PathwayCommons; P04808; -.
DR SignaLink; P04808; -.
DR BioGRID-ORCS; 6013; 9 hits in 1056 CRISPR screens.
DR ChiTaRS; RLN1; human.
DR GenomeRNAi; 6013; -.
DR Pharos; P04808; Tbio.
DR PRO; PR:P04808; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; P04808; protein.
DR Bgee; ENSG00000107018; Expressed in oocyte and 103 other tissues.
DR Genevisible; P04808; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005179; F:hormone activity; TAS:ProtInc.
DR GO; GO:0007565; P:female pregnancy; NAS:ProtInc.
DR GO; GO:0007165; P:signal transduction; NAS:ProtInc.
DR InterPro; IPR016179; Insulin-like.
DR InterPro; IPR036438; Insulin-like_sf.
DR InterPro; IPR022353; Insulin_CS.
DR InterPro; IPR022352; Insulin_family.
DR InterPro; IPR022421; Relaxin.
DR Pfam; PF00049; Insulin; 1.
DR PRINTS; PR00276; INSULINFAMLY.
DR PRINTS; PR02004; RELAXIN.
DR SMART; SM00078; IlGF; 1.
DR SUPFAM; SSF56994; SSF56994; 1.
DR PROSITE; PS00262; INSULIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cleavage on pair of basic residues; Disulfide bond;
KW Hormone; Reference proteome; Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000250"
FT PEPTIDE 23..53
FT /note="Relaxin B chain"
FT /evidence="ECO:0000250"
FT /id="PRO_0000016076"
FT PROPEP 56..158
FT /note="Connecting peptide"
FT /evidence="ECO:0000250"
FT /id="PRO_0000016077"
FT PEPTIDE 163..185
FT /note="Relaxin A chain"
FT /evidence="ECO:0000250"
FT /id="PRO_0000016078"
FT DISULFID 35..172
FT /note="Interchain (between B and A chains)"
FT /evidence="ECO:0000250"
FT DISULFID 47..185
FT /note="Interchain (between B and A chains)"
FT /evidence="ECO:0000250"
FT DISULFID 171..176
FT /evidence="ECO:0000250"
FT VAR_SEQ 71..117
FT /note="EIVPSFINKDTETIIIMLEFIANLPPELKAALSERQPSLPELQQYVP -> G
FT DFIQTVSLGISPDGGKALRTGSCFTREFLGALSKLYHPSSTKIQKL (in isoform
FT 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_002709"
FT VAR_SEQ 118..185
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_002710"
FT VARIANT 28
FT /note="K -> M (in dbSNP:rs397780021)"
FT /id="VAR_011962"
SQ SEQUENCE 185 AA; 21146 MW; B318628ABFEC7142 CRC64;
MPRLFLFHLL EFCLLLNQFS RAVAAKWKDD VIKLCGRELV RAQIAICGMS TWSKRSLSQE
DAPQTPRPVA EIVPSFINKD TETIIIMLEF IANLPPELKA ALSERQPSLP ELQQYVPALK
DSNLSFEEFK KLIRNRQSEA ADSNPSELKY LGLDTHSQKK RRPYVALFEK CCLIGCTKRS
LAKYC
