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P04808 (REL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Prorelaxin H1

Cleaved into the following 2 chains:

  1. Relaxin B chain
  2. Relaxin A chain
Gene names
Name:RLN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length185 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

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.

Subunit structure

Heterodimer of a B chain and an A chain linked by two disulfide bonds.

Subcellular location

Secreted.

Tissue specificity

Prostate. Not expressed in placenta, decidua or ovary. Ref.5

Sequence similarities

Belongs to the insulin family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
   Molecular functionHormone
   PTMCleavage on pair of basic residues
Disulfide bond
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processfemale pregnancy

Non-traceable author statement Ref.2. Source: ProtInc

signal transduction

Non-traceable author statement Ref.2. Source: ProtInc

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionhormone activity

Traceable author statement Ref.2. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P04808-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P04808-2)

The sequence of this isoform differs from the canonical sequence as follows:
     71-117: EIVPSFINKD...SLPELQQYVP → GDFIQTVSLG...HPSSTKIQKL
     118-185: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 By similarity
Peptide23 – 5331Relaxin B chain By similarity
PRO_0000016076
Propeptide56 – 158103Connecting peptide By similarity
PRO_0000016077
Peptide163 – 18523Relaxin A chain By similarity
PRO_0000016078

Amino acid modifications

Disulfide bond35 ↔ 172Interchain (between B and A chains) By similarity
Disulfide bond47 ↔ 185Interchain (between B and A chains) By similarity
Disulfide bond171 ↔ 176 By similarity

Natural variations

Alternative sequence71 – 11747EIVPS…QQYVP → GDFIQTVSLGISPDGGKALR TGSCFTREFLGALSKLYHPS STKIQKL in isoform 2.
VSP_002709
Alternative sequence118 – 18568Missing in isoform 2.
VSP_002710
Natural variant281K → M.
Corresponds to variant rs618066 [ dbSNP | Ensembl ].
VAR_011962

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 13, 1987. Version 1.
Checksum: B318628ABFEC7142

FASTA18521,146
        10         20         30         40         50         60 
MPRLFLFHLL EFCLLLNQFS RAVAAKWKDD VIKLCGRELV RAQIAICGMS TWSKRSLSQE 

        70         80         90        100        110        120 
DAPQTPRPVA EIVPSFINKD TETIIIMLEF IANLPPELKA ALSERQPSLP ELQQYVPALK 

       130        140        150        160        170        180 
DSNLSFEEFK KLIRNRQSEA ADSNPSELKY LGLDTHSQKK RRPYVALFEK CCLIGCTKRS 


LAKYC 

« Hide

Isoform 2 [UniParc].

Checksum: 705E3AE6229DF3E4
Show »

FASTA11713,011

References

« Hide 'large scale' references
[1]"Relaxin gene expression in human ovaries and the predicted structure of a human preprorelaxin by analysis of cDNA clones."
Hudson P., John M., Crawford R., Haralambidis J., Scanlon D., Gorman J., Tregear G., Shine J., Niall H.
EMBO J. 3:2333-2339(1984) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Structure of a genomic clone encoding biologically active human relaxin."
Hudson P., Haley J., John M., Cronk M., Crawford R., Haralambidis J., Tregear G., Shine J., Niall H.
Nature 301:628-631(1983) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Prostate.
[5]"Expression of human relaxin genes: characterization of a novel alternatively-spliced human relaxin mRNA species."
Gunnersen J.M., Fu P., Roche P.J., Tregear G.W.
Mol. Cell. Endocrinol. 118:85-94(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
Tissue: Prostate.
[6]"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."
Garibay-Tupas J.L., Csiszar K., Fox M., Povey S., Bryant-Greenwood G.D.
J. Mol. Endocrinol. 23:355-365(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X00949 mRNA. Translation: CAA25461.1.
V00578 Genomic DNA. Translation: CAA23839.1.
V00577 Genomic DNA. Translation: CAA23838.1.
AL135786 Genomic DNA. Translation: CAC04179.1.
BC005956 mRNA. Translation: AAH05956.1.
S83200 Genomic DNA. Translation: AAD14429.1.
AF104934 Genomic DNA. Translation: AAD21967.1.
CCDSCCDS6462.1. [P04808-1]
PIRA44559. B05092.
RefSeqNP_008842.1. NM_006911.3. [P04808-1]
XP_005251598.1. XM_005251541.1. [P04808-2]
UniGeneHs.368996.

3D structure databases

ProteinModelPortalP04808.
SMRP04808. Positions 27-52.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000223862.

PTM databases

PhosphoSiteP04808.

Polymorphism databases

DMDM132280.

Proteomic databases

PaxDbP04808.
PRIDEP04808.

Protocols and materials databases

DNASU6013.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000223858; ENSP00000223858; ENSG00000107018. [P04808-2]
ENST00000223862; ENSP00000223862; ENSG00000107018. [P04808-1]
GeneID6013.
KEGGhsa:6013.
UCSCuc003zjb.2. human. [P04808-1]

Organism-specific databases

CTD6013.
GeneCardsGC09M005324.
HGNCHGNC:10026. RLN1.
MIM179730. gene.
neXtProtNX_P04808.
PharmGKBPA34399.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40989.
HOGENOMHOG000236342.
HOVERGENHBG003234.
InParanoidP04808.
KOK05255.
OMACCLIGCT.
OrthoDBEOG7QZGC5.
PhylomeDBP04808.
TreeFamTF333404.

Gene expression databases

BgeeP04808.
CleanExHS_RLN1.
GenevestigatorP04808.

Family and domain databases

Gene3D1.10.100.10. 2 hits.
InterProIPR016179. Insulin-like.
IPR022353. Insulin_CS.
IPR022352. Insulin_family.
IPR022421. Relaxin.
[Graphical view]
PfamPF00049. Insulin. 1 hit.
[Graphical view]
PRINTSPR00276. INSULINFAMLY.
PR02004. RELAXIN.
SMARTSM00078. IlGF. 1 hit.
[Graphical view]
SUPFAMSSF56994. SSF56994. 2 hits.
PROSITEPS00262. INSULIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi6013.
NextBio23459.
PROP04808.
SOURCESearch...

Entry information

Entry nameREL1_HUMAN
AccessionPrimary (citable) accession number: P04808
Secondary accession number(s): Q99936, Q9UQJ1
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: August 13, 1987
Last modified: July 9, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM