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Q6XPR3 (RPTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Repetin
Gene names
Name:RPTN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length784 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium.

Subcellular location

Secretedextracellular spaceextracellular matrix.

Tissue specificity

Expression is scattered in the normal epidermis but strong in the acrosyringium, the inner hair root sheath and in the filiform papilli of the tongue. Ref.2

Domain

Can be divided into a N-terminal domain with significant homology to S100-like calcium-binding proteins, a central domain containing a series of short tandem repeats, and two flanking segments with low homology to the consensus sequences of the central repeats.

Post-translational modification

Potential substrate of transglutaminase. Some arginines are probably converted to citrullines by peptidylarginine deimidase.

Sequence similarities

Belongs to the S100-fused protein family.

Contains 2 EF-hand domains.

Ontologies

Keywords
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DomainRepeat
   LigandCalcium
Metal-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcornified envelope

Inferred from electronic annotation. Source: Ensembl

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 784784Repetin
PRO_0000144040

Regions

Domain13 – 4836EF-hand 1
Domain49 – 8436EF-hand 2
Calcium binding22 – 33121; low affinity Potential
Calcium binding62 – 73122; high affinity Potential
Region1 – 9191S-100-like By similarity
Compositional bias100 – 783684Gln-rich

Natural variations

Natural variant3201S → G.
Corresponds to variant rs12117644 [ dbSNP | Ensembl ].
VAR_059177

Sequences

Sequence LengthMass (Da)Tools
Q6XPR3 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: B4B031B4778EBAA3

FASTA78490,731
        10         20         30         40         50         60 
MAQLLNSILS VIDVFHKYAK GNGDCALLCK EELKQLLLAE FGDILQRPND PETVETILNL 

        70         80         90        100        110        120 
LDQDRDGHID FHEYLLLVFQ LVQACYHKLD NKSHGGRTSQ QERGQEGAQD CKFPGNTGRQ 

       130        140        150        160        170        180 
HRQRHEEERQ NSHHSQPERQ DGDSHHGQPE RQDRDSHHGQ SEKQDRDSHH SQPERQDRDS 

       190        200        210        220        230        240 
HHNQSERQDK DFSFDQSERQ SQDSSSGKKV SHKSTSGQAK WQGHIFALNR CEKPIQDSHY 

       250        260        270        280        290        300 
GQSERHTQQS ETLGQASHFN QTNQQKSGSY CGQSERLGQE LGCGQTDRQG QSSHYGQTDR 

       310        320        330        340        350        360 
QDQSYHYGQT DRQGQSSHYS QTDRQGQSSH YSQPDRQGQS SHYGQMDRKG QCYHYDQTNR 

       370        380        390        400        410        420 
QGQGSHYSQP NRQGQSSHYG QPDTQDQSSH YGQTDRQDQS SHYGQTERQG QSSHYSQMDR 

       430        440        450        460        470        480 
QGQGSHYGQT DRQGQSSHYG QPDRQGQNSH YGQTDRQGQS SHYGQTDRQG QSSHYSQPDK 

       490        500        510        520        530        540 
QGQSSHYGKI DRQDQSYHYG QPDGQGQSSH YGQTDRQGQS FHYGQPDRQG QSSHYSQMDR 

       550        560        570        580        590        600 
QGQSSHYGQT DRQGQSSHYG QTDRQGQSYH YGQTDRQGQS SHYIQSQTGE IQGQNKYFQG 

       610        620        630        640        650        660 
TEGTRKASYV EQSGRSGRLS QQTPGQEGYQ NQGQGFQSRD SQQNGHQVWE PEEDSQHHQH 

       670        680        690        700        710        720 
KLLAQIQQER PLCHKGRDWQ SCSSEQGHRQ AQTRQSHGEG LSHWAEEEQG HQTWDRHSHE 

       730        740        750        760        770        780 
SQEGPCGTQD RRTHKDEQNH QRRDRQTHEH EQSHQRRDRQ THEDKQNRQR RDRQTHEDEQ 


NHQR 

« Hide

References

« Hide 'large scale' references
[1]"Human intermediate filament-associated protein family."
Wu Z., Schroeder J.M.
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Skin.
[2]"Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex."
Huber M., Siegenthaler G., Mirancea N., Marenholz I., Nizetic D., Breitkreutz D., Mischke D., Hohl D.
J. Invest. Dermatol. 124:998-1007(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CALCIUM-BINDING, TISSUE SPECIFICITY.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY396742 mRNA. Translation: AAR91620.1.
AY219924 Genomic DNA. Translation: AAP48705.1.
AL589986 Genomic DNA. Translation: CAX15197.1.
RefSeqNP_001116437.1. NM_001122965.1.
UniGeneHs.376144.

3D structure databases

ProteinModelPortalQ6XPR3.
SMRQ6XPR3. Positions 2-85.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126006. 1 interaction.
IntActQ6XPR3. 3 interactions.
STRING9606.ENSP00000317895.

PTM databases

PhosphoSiteQ6XPR3.

Polymorphism databases

DMDM68566036.

Proteomic databases

PaxDbQ6XPR3.
PRIDEQ6XPR3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316073; ENSP00000317895; ENSG00000215853.
GeneID126638.
KEGGhsa:126638.
UCSCuc001ezs.1. human.

Organism-specific databases

CTD126638.
GeneCardsGC01M152126.
HGNCHGNC:26809. RPTN.
HPAHPA030485.
MIM613259. gene.
neXtProtNX_Q6XPR3.
PharmGKBPA142670970.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG266503.
HOGENOMHOG000082449.
InParanoidQ6XPR3.
OMAYGQSGRQ.
OrthoDBEOG7QC7VH.
PhylomeDBQ6XPR3.
TreeFamTF338665.

Gene expression databases

ArrayExpressQ6XPR3.
BgeeQ6XPR3.
CleanExHS_RPTN.
GenevestigatorQ6XPR3.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR001751. S100/CaBP-9k_CS.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamPF01023. S_100. 1 hit.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS00303. S100_CABP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi126638.
NextBio81869.
PROQ6XPR3.
SOURCESearch...

Entry information

Entry nameRPTN_HUMAN
AccessionPrimary (citable) accession number: Q6XPR3
Secondary accession number(s): B7ZBZ3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 86 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 1

Human chromosome 1: entries, gene names and cross-references to MIM