Reviewed, UniProtKB/Swiss-Prot P04808 (REL1_HUMAN)

Names and origin

Protein names

Recommended name:
    Prorelaxin H1
Cleaved into the following 2 chains:
    1- Recommended name:
            Relaxin B chain
    2- Recommended name:
            Relaxin A chain

Gene names

Name:

RLN1

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 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 component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
Molecular function	Hormone
PTM	Cleavage on pair of basic residues Disulfide bond
Gene Ontology (GO)
Biological process	female pregnancy Ref.2 Non-traceable author statement. Source: ProtInc signal transduction Ref.2 Non-traceable author statement. Source: ProtInc
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	hormone activity Ref.2 Traceable author statement. 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	By similarity
	Peptide	23 – 53	31	Relaxin B chain By similarity		PRO_0000016076
	Propeptide	56 – 158	103	Connecting peptide By similarity		PRO_0000016077
	Peptide	163 – 185	23	Relaxin A chain By similarity		PRO_0000016078
Amino acid modifications
	Disulfide bond	35 ↔ 172		Interchain (between B and A chains) By similarity
	Disulfide bond	47 ↔ 185		Interchain (between B and A chains) By similarity
	Disulfide bond	171 ↔ 176		By similarity
Natural variations
	Alternative sequence	71 – 117	47	EIVPS…QQYVP → GDFIQTVSLGISPDGGKALR TGSCFTREFLGALSKLYHPS STKIQKL in isoform 2.		VSP_002709
	Alternative sequence	118 – 185	68	Missing in isoform 2.		VSP_002710
	Natural variant	28	1	K → M: dbSNP rs618066.		VAR_011962

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 13, 1987. Version 1. Checksum: B318628ABFEC7142	FASTA	185	21,146
	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
	Isoform 2. Checksum: 705E3AE6229DF3E4	FASTA	117	13,011
	10 20 30 40 50 60 MPRLFLFHLL EFCLLLNQFS RAVAAKWKDD VIKLCGRELV RAQIAICGMS TWSKRSLSQE 70 80 90 100 110 DAPQTPRPVA GDFIQTVSLG ISPDGGKALR TGSCFTREFL GALSKLYHPS STKIQKL

References

	« Hide 'large scale' referencesShow '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).
[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: 6298628] [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: 15164053] [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: 15489334] [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: 8735594] [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: 10601981] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00025853. IPI00219641.
PIR	A44559. B05092.
RefSeq	NP_008842.1.
UniGene	Hs.368996
3D structure databases
HSSP	HSSP built from PDB template 6RLX based on UniProtKB P04090.
ModBase	Search...
Proteomic databases
PRIDE	P04808.
Genome annotation databases
Ensembl	ENSG00000107018. Homo sapiens. [Contig view]
GeneID	6013.
KEGG	hsa:6013.
Organism-specific databases
GeneCards	GC09M005324.
H-InvDB	HIX0007898.
HGNC	HGNC:10026. RLN1.
MIM	179730. gene.
PharmGKB	PA34399.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P04808.
HOVERGEN	P04808.
Gene expression databases
ArrayExpress	P04808.
Bgee	P04808.
CleanEx	HS_RLN1.
GermOnline	ENSG00000107018. 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	23459.
SOURCE	Search...

Entry information

Entry name

REL1_HUMAN

Accession

Primary (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:	June 16, 2009
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)