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P04808

- REL1_HUMAN

UniProt

P04808 - REL1_HUMAN

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Protein

Prorelaxin H1

Gene

RLN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

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.

GO - Molecular functioni

  1. hormone activity Source: ProtInc

GO - Biological processi

  1. female pregnancy Source: ProtInc
  2. signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hormone

Names & Taxonomyi

Protein namesi
Recommended name:
Prorelaxin H1
Cleaved into the following 2 chains:
Gene namesi
Name:RLN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:10026. RLN1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34399.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222By similarityAdd
BLAST
Peptidei23 – 5331Relaxin B chainBy similarityPRO_0000016076Add
BLAST
Propeptidei56 – 158103Connecting peptideBy similarityPRO_0000016077Add
BLAST
Peptidei163 – 18523Relaxin A chainBy similarityPRO_0000016078Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi35 ↔ 172Interchain (between B and A chains)By similarity
Disulfide bondi47 ↔ 185Interchain (between B and A chains)By similarity
Disulfide bondi171 ↔ 176By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiP04808.
PRIDEiP04808.

PTM databases

PhosphoSiteiP04808.

Expressioni

Tissue specificityi

Prostate. Not expressed in placenta, decidua or ovary.1 Publication

Gene expression databases

BgeeiP04808.
CleanExiHS_RLN1.
GenevestigatoriP04808.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000223862.

Structurei

3D structure databases

ProteinModelPortaliP04808.
SMRiP04808. Positions 27-52.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the insulin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG40989.
GeneTreeiENSGT00510000048834.
HOGENOMiHOG000236342.
HOVERGENiHBG003234.
InParanoidiP04808.
KOiK05255.
OMAiCCLIGCT.
OrthoDBiEOG7QZGC5.
PhylomeDBiP04808.
TreeFamiTF333404.

Family and domain databases

Gene3Di1.10.100.10. 2 hits.
InterProiIPR016179. Insulin-like.
IPR022353. Insulin_CS.
IPR022352. Insulin_family.
IPR022421. Relaxin.
[Graphical view]
PfamiPF00049. Insulin. 1 hit.
[Graphical view]
PRINTSiPR00276. INSULINFAMLY.
PR02004. RELAXIN.
SMARTiSM00078. IlGF. 1 hit.
[Graphical view]
SUPFAMiSSF56994. SSF56994. 2 hits.
PROSITEiPS00262. INSULIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P04808-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MPRLFLFHLL EFCLLLNQFS RAVAAKWKDD VIKLCGRELV RAQIAICGMS
60 70 80 90 100
TWSKRSLSQE DAPQTPRPVA EIVPSFINKD TETIIIMLEF IANLPPELKA
110 120 130 140 150
ALSERQPSLP ELQQYVPALK DSNLSFEEFK KLIRNRQSEA ADSNPSELKY
160 170 180
LGLDTHSQKK RRPYVALFEK CCLIGCTKRS LAKYC
Length:185
Mass (Da):21,146
Last modified:August 13, 1987 - v1
Checksum:iB318628ABFEC7142
GO
Isoform 2 (identifier: P04808-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:117
Mass (Da):13,011
Checksum:i705E3AE6229DF3E4
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281K → M.
Corresponds to variant rs618066 [ dbSNP | Ensembl ].
VAR_011962

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei71 – 11747EIVPS…QQYVP → GDFIQTVSLGISPDGGKALR TGSCFTREFLGALSKLYHPS STKIQKL in isoform 2. CuratedVSP_002709Add
BLAST
Alternative sequencei118 – 18568Missing in isoform 2. CuratedVSP_002710Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS6462.1. [P04808-1]
PIRiB05092. A44559.
RefSeqiNP_008842.1. NM_006911.3. [P04808-1]
XP_005251598.1. XM_005251541.1. [P04808-2]
UniGeneiHs.368996.

Genome annotation databases

EnsembliENST00000223862; ENSP00000223862; ENSG00000107018. [P04808-1]
GeneIDi6013.
KEGGihsa:6013.
UCSCiuc003zjb.2. human. [P04808-1]

Polymorphism databases

DMDMi132280.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS6462.1. [P04808-1 ]
PIRi B05092. A44559.
RefSeqi NP_008842.1. NM_006911.3. [P04808-1 ]
XP_005251598.1. XM_005251541.1. [P04808-2 ]
UniGenei Hs.368996.

3D structure databases

ProteinModelPortali P04808.
SMRi P04808. Positions 27-52.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000223862.

PTM databases

PhosphoSitei P04808.

Polymorphism databases

DMDMi 132280.

Proteomic databases

PaxDbi P04808.
PRIDEi P04808.

Protocols and materials databases

DNASUi 6013.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000223862 ; ENSP00000223862 ; ENSG00000107018 . [P04808-1 ]
GeneIDi 6013.
KEGGi hsa:6013.
UCSCi uc003zjb.2. human. [P04808-1 ]

Organism-specific databases

CTDi 6013.
GeneCardsi GC09M005324.
HGNCi HGNC:10026. RLN1.
MIMi 179730. gene.
neXtProti NX_P04808.
PharmGKBi PA34399.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40989.
GeneTreei ENSGT00510000048834.
HOGENOMi HOG000236342.
HOVERGENi HBG003234.
InParanoidi P04808.
KOi K05255.
OMAi CCLIGCT.
OrthoDBi EOG7QZGC5.
PhylomeDBi P04808.
TreeFami TF333404.

Miscellaneous databases

GenomeRNAii 6013.
NextBioi 23459.
PROi P04808.
SOURCEi Search...

Gene expression databases

Bgeei P04808.
CleanExi HS_RLN1.
Genevestigatori P04808.

Family and domain databases

Gene3Di 1.10.100.10. 2 hits.
InterProi IPR016179. Insulin-like.
IPR022353. Insulin_CS.
IPR022352. Insulin_family.
IPR022421. Relaxin.
[Graphical view ]
Pfami PF00049. Insulin. 1 hit.
[Graphical view ]
PRINTSi PR00276. INSULINFAMLY.
PR02004. RELAXIN.
SMARTi SM00078. IlGF. 1 hit.
[Graphical view ]
SUPFAMi SSF56994. SSF56994. 2 hits.
PROSITEi PS00262. INSULIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiREL1_HUMAN
AccessioniPrimary (citable) accession number: P04808
Secondary accession number(s): Q99936, Q9UQJ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: August 13, 1987
Last modified: October 29, 2014
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3