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Q6XPR3

- RPTN_HUMAN

UniProt

Q6XPR3 - RPTN_HUMAN

Protein

Repetin

Gene

RPTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi22 – 33121; low affinityPROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi62 – 73122; high affinityPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Repetin
    Gene namesi
    Name:RPTN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26809. RPTN.

    Subcellular locationi

    GO - Cellular componenti

    1. cornified envelope Source: Ensembl
    2. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670970.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 784784RepetinPRO_0000144040Add
    BLAST

    Post-translational modificationi

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

    Proteomic databases

    PaxDbiQ6XPR3.
    PRIDEiQ6XPR3.

    PTM databases

    PhosphoSiteiQ6XPR3.

    Expressioni

    Tissue specificityi

    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.1 Publication

    Gene expression databases

    ArrayExpressiQ6XPR3.
    BgeeiQ6XPR3.
    CleanExiHS_RPTN.
    GenevestigatoriQ6XPR3.

    Organism-specific databases

    HPAiHPA030485.

    Interactioni

    Protein-protein interaction databases

    BioGridi126006. 1 interaction.
    IntActiQ6XPR3. 3 interactions.
    STRINGi9606.ENSP00000317895.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6XPR3.
    SMRiQ6XPR3. Positions 2-85.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini13 – 4836EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini49 – 8436EF-hand 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 9191S-100-likeBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi100 – 783684Gln-richAdd
    BLAST

    Domaini

    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.

    Sequence similaritiesi

    Belongs to the S100-fused protein family.Curated
    Contains 2 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG266503.
    HOGENOMiHOG000082449.
    InParanoidiQ6XPR3.
    OMAiYGQSGRQ.
    OrthoDBiEOG7QC7VH.
    PhylomeDBiQ6XPR3.
    TreeFamiTF338665.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR011992. 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]
    PfamiPF01023. S_100. 1 hit.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 1 hit.
    PS00303. S100_CABP. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6XPR3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQLLNSILS VIDVFHKYAK GNGDCALLCK EELKQLLLAE FGDILQRPND    50
    PETVETILNL LDQDRDGHID FHEYLLLVFQ LVQACYHKLD NKSHGGRTSQ 100
    QERGQEGAQD CKFPGNTGRQ HRQRHEEERQ NSHHSQPERQ DGDSHHGQPE 150
    RQDRDSHHGQ SEKQDRDSHH SQPERQDRDS HHNQSERQDK DFSFDQSERQ 200
    SQDSSSGKKV SHKSTSGQAK WQGHIFALNR CEKPIQDSHY GQSERHTQQS 250
    ETLGQASHFN QTNQQKSGSY CGQSERLGQE LGCGQTDRQG QSSHYGQTDR 300
    QDQSYHYGQT DRQGQSSHYS QTDRQGQSSH YSQPDRQGQS SHYGQMDRKG 350
    QCYHYDQTNR QGQGSHYSQP NRQGQSSHYG QPDTQDQSSH YGQTDRQDQS 400
    SHYGQTERQG QSSHYSQMDR QGQGSHYGQT DRQGQSSHYG QPDRQGQNSH 450
    YGQTDRQGQS SHYGQTDRQG QSSHYSQPDK QGQSSHYGKI DRQDQSYHYG 500
    QPDGQGQSSH YGQTDRQGQS FHYGQPDRQG QSSHYSQMDR QGQSSHYGQT 550
    DRQGQSSHYG QTDRQGQSYH YGQTDRQGQS SHYIQSQTGE IQGQNKYFQG 600
    TEGTRKASYV EQSGRSGRLS QQTPGQEGYQ NQGQGFQSRD SQQNGHQVWE 650
    PEEDSQHHQH KLLAQIQQER PLCHKGRDWQ SCSSEQGHRQ AQTRQSHGEG 700
    LSHWAEEEQG HQTWDRHSHE SQEGPCGTQD RRTHKDEQNH QRRDRQTHEH 750
    EQSHQRRDRQ THEDKQNRQR RDRQTHEDEQ NHQR 784
    Length:784
    Mass (Da):90,731
    Last modified:July 5, 2004 - v1
    Checksum:iB4B031B4778EBAA3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti320 – 3201S → G.
    Corresponds to variant rs12117644 [ dbSNP | Ensembl ].
    VAR_059177

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY396742 mRNA. Translation: AAR91620.1.
    AY219924 Genomic DNA. Translation: AAP48705.1.
    AL589986 Genomic DNA. Translation: CAX15197.1.
    CCDSiCCDS41397.1.
    RefSeqiNP_001116437.1. NM_001122965.1.
    UniGeneiHs.376144.

    Genome annotation databases

    EnsembliENST00000316073; ENSP00000317895; ENSG00000215853.
    GeneIDi126638.
    KEGGihsa:126638.
    UCSCiuc001ezs.1. human.

    Polymorphism databases

    DMDMi68566036.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY396742 mRNA. Translation: AAR91620.1 .
    AY219924 Genomic DNA. Translation: AAP48705.1 .
    AL589986 Genomic DNA. Translation: CAX15197.1 .
    CCDSi CCDS41397.1.
    RefSeqi NP_001116437.1. NM_001122965.1.
    UniGenei Hs.376144.

    3D structure databases

    ProteinModelPortali Q6XPR3.
    SMRi Q6XPR3. Positions 2-85.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126006. 1 interaction.
    IntActi Q6XPR3. 3 interactions.
    STRINGi 9606.ENSP00000317895.

    PTM databases

    PhosphoSitei Q6XPR3.

    Polymorphism databases

    DMDMi 68566036.

    Proteomic databases

    PaxDbi Q6XPR3.
    PRIDEi Q6XPR3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316073 ; ENSP00000317895 ; ENSG00000215853 .
    GeneIDi 126638.
    KEGGi hsa:126638.
    UCSCi uc001ezs.1. human.

    Organism-specific databases

    CTDi 126638.
    GeneCardsi GC01M152126.
    HGNCi HGNC:26809. RPTN.
    HPAi HPA030485.
    MIMi 613259. gene.
    neXtProti NX_Q6XPR3.
    PharmGKBi PA142670970.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG266503.
    HOGENOMi HOG000082449.
    InParanoidi Q6XPR3.
    OMAi YGQSGRQ.
    OrthoDBi EOG7QC7VH.
    PhylomeDBi Q6XPR3.
    TreeFami TF338665.

    Miscellaneous databases

    GenomeRNAii 126638.
    NextBioi 81869.
    PROi Q6XPR3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6XPR3.
    Bgeei Q6XPR3.
    CleanExi HS_RPTN.
    Genevestigatori Q6XPR3.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR011992. 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 ]
    Pfami PF01023. S_100. 1 hit.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 1 hit.
    PS00303. S100_CABP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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].

    Entry informationi

    Entry nameiRPTN_HUMAN
    AccessioniPrimary (citable) accession number: Q6XPR3
    Secondary accession number(s): B7ZBZ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 88 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 1
      Human chromosome 1: 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