Reviewed,
UniProtKB/Swiss-Prot P04090 (REL2_HUMAN)
Last modified
June 16, 2009.
Version 103.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Prorelaxin H2 Cleaved into the following 2 chains: 1- Recommended name: Relaxin B chain 2- Recommended name: Relaxin A chain | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 185 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein 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 | |
| Tissue specificity | Isoform 1 expressed in the ovary during pregnancy. Also expressed in placenta, decidua and prostate. Isoform 2 relatively abundant in placenta, much lower abundance in the prostate gland. Not detected in the ovary. Ref.1 Ref.4 |
| Sequence similarities | Belongs to the insulin family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal |
| Molecular function | Hormone |
| PTM | Cleavage on pair of basic residues Disulfide bond Pyrrolidone carboxylic acid |
| Technical term | 3D-structure Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | female pregnancy Ref.1 Traceable author statement. Source: ProtInc |
| Cellular component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | hormone activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P04090-1) 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: P04090-2) The sequence of this isoform differs from the canonical sequence as follows: 71-117: EIVPSFINKD...ALPQLQQHVP → GDFIQTVSLG...HPSSTKIQKP 118-185: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||
Molecule processing | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 24 | 24 | Ref.6 Ref.7 | ||||||||||||||
| Peptide | 25 – 53 | 29 | Relaxin B chain | PRO_0000016079 | |||||||||||||
| Propeptide | 56 – 157 | 102 | Connecting peptide | PRO_0000016080 | |||||||||||||
| Peptide | 162 – 185 | 24 | Relaxin A chain | PRO_0000016081 | |||||||||||||
Amino acid modifications | |||||||||||||||||
| Modified residue | 162 | 1 | Pyrrolidone carboxylic acid Ref.7 | ||||||||||||||
| Disulfide bond | 35 ↔ 172 | Interchain (between B and A chains) | |||||||||||||||
| Disulfide bond | 47 ↔ 185 | Interchain (between B and A chains) | |||||||||||||||
| Disulfide bond | 171 ↔ 176 | Ref.8 | |||||||||||||||
Natural variations | |||||||||||||||||
| Alternative sequence | 71 – 117 | 47 | EIVPS…QQHVP → GDFIQTVSLGISPDGGKALR TGSCFTREFLGALSKLCHPS STKIQKP in isoform 2. | VSP_002711 | |||||||||||||
| Alternative sequence | 118 – 185 | 68 | Missing in isoform 2. | VSP_002712 | |||||||||||||
| Natural variant | 12 | 1 | V → F: dbSNP rs2020050. | VAR_050007 | |||||||||||||
| Natural variant | 28 | 1 | M → K: dbSNP rs618066. | VAR_034444 | |||||||||||||
| Natural variant | 68 | 1 | P → Q: dbSNP rs2273783. | VAR_022124 | |||||||||||||
Secondary structure | |||||||||||||||||
Helix Strand Turn | |||||||||||||||||
| Helix | 27 – 29 | 3 | |||||||||||||||
| Helix | 36 – 49 | 14 | |||||||||||||||
| Helix | 163 – 173 | 11 | |||||||||||||||
| Helix | 178 – 182 | 5 | |||||||||||||||
Sequences
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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: 6548702] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "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. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [4] | "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: 8735594] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 71-185 (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Prostate. |
| [5] | "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: 10601981] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-15. |
| [6] | "Human seminal relaxin is a product of the same gene as human luteal relaxin." Winslow J.W., Shih A., Bourell J.H., Weiss G., Reed B., Stults J.T., Goldsmith L.T. Endocrinology 130:2660-2668(1992) [PubMed: 1572287] [Abstract] Cited for: PARTIAL PROTEIN SEQUENCE OF 25-51. Tissue: Semen. |
| [7] | "Structural characterization by mass spectrometry of native and recombinant human relaxin." Winslow J.W., Griffin P.R., Rinderknecht E., Vandlen R.L. Biomed. Environ. Mass Spectrom. 19:655-664(1990) [PubMed: 2076464] [Abstract] Cited for: PROTEIN SEQUENCE OF 25-53 AND 162-185 (ISOFORM 1), PYROGLUTAMATE FORMATION AT GLN-162. |
| [8] | "Total synthesis of human relaxin and human relaxin derivatives by solid-phase peptide synthesis and site-directed chain combination." Buellesbach E.E., Schwabe C. J. Biol. Chem. 266:10754-10761(1991) [PubMed: 2040595] [Abstract] Cited for: SYNTHESIS. |
| [9] | "X-ray structure of human relaxin at 1.5 A. Comparison to insulin and implications for receptor binding determinants." Eigenbrot C., Randal M., Quan C., Burnier J., O'Connell L., Rinderknecht E., Kossiakoff A.A. J. Mol. Biol. 221:15-21(1991) [PubMed: 1656049] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS). |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| X00948 mRNA. Translation: CAA25460.1. AL135786 Genomic DNA. Translation: CAC04177.1. BC126415 mRNA. Translation: AAI26416.1. BC126419 mRNA. Translation: AAI26420.1. S83200 Genomic DNA. Translation: AAD14429.1. Sequence problems. AF104935 Genomic DNA. Translation: AAD21961.1. | |||||||||||||||||||
| IPI | IPI00021836. IPI00218018. | ||||||||||||||||||
| PIR | A60982. A05092. | ||||||||||||||||||
| RefSeq | NP_005050.2. NP_604390.1. | ||||||||||||||||||
| UniGene | Hs.127032 Hs.368996 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
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| ModBase | Search... | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P04090. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PRIDE | P04090. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000107014. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 6019. | ||||||||||||||||||
| KEGG | hsa:6019. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC09M005289. | ||||||||||||||||||
| H-InvDB | HIX0034906. | ||||||||||||||||||
| HGNC | HGNC:10027. RLN2. | ||||||||||||||||||
| MIM | 179740. gene. | ||||||||||||||||||
| PharmGKB | PA34400. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOGENOM | P04090. | ||||||||||||||||||
| HOVERGEN | P04090. | ||||||||||||||||||
| OMA | P04090. AICGKST. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P04090. | ||||||||||||||||||
| Bgee | P04090. | ||||||||||||||||||
| CleanEx | HS_RLN2. | ||||||||||||||||||
| GermOnline | ENSG00000107014. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR004825. Ins/IGF/relaxin. [Graphical view] | ||||||||||||||||||
| Pfam | PF00049. Insulin. 1 hit. [Graphical view] | ||||||||||||||||||
| SMART | SM00078. IlGF. 1 hit. [Graphical view] | ||||||||||||||||||
| PROSITE | PS00262. INSULIN. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 23483. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | REL2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P04090 Secondary accession number(s): A0AVM0 Q9UQJ2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


