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Q6XPR3

- RPTN_HUMAN

UniProt

Q6XPR3 - RPTN_HUMAN

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Protein

Repetin

Gene

RPTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiQ6XPR3.
CleanExiHS_RPTN.
ExpressionAtlasiQ6XPR3. baseline and differential.
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.
GeneTreeiENSGT00530000063634.
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

        10         20         30         40         50
MAQLLNSILS VIDVFHKYAK GNGDCALLCK EELKQLLLAE FGDILQRPND
60 70 80 90 100
PETVETILNL LDQDRDGHID FHEYLLLVFQ LVQACYHKLD NKSHGGRTSQ
110 120 130 140 150
QERGQEGAQD CKFPGNTGRQ HRQRHEEERQ NSHHSQPERQ DGDSHHGQPE
160 170 180 190 200
RQDRDSHHGQ SEKQDRDSHH SQPERQDRDS HHNQSERQDK DFSFDQSERQ
210 220 230 240 250
SQDSSSGKKV SHKSTSGQAK WQGHIFALNR CEKPIQDSHY GQSERHTQQS
260 270 280 290 300
ETLGQASHFN QTNQQKSGSY CGQSERLGQE LGCGQTDRQG QSSHYGQTDR
310 320 330 340 350
QDQSYHYGQT DRQGQSSHYS QTDRQGQSSH YSQPDRQGQS SHYGQMDRKG
360 370 380 390 400
QCYHYDQTNR QGQGSHYSQP NRQGQSSHYG QPDTQDQSSH YGQTDRQDQS
410 420 430 440 450
SHYGQTERQG QSSHYSQMDR QGQGSHYGQT DRQGQSSHYG QPDRQGQNSH
460 470 480 490 500
YGQTDRQGQS SHYGQTDRQG QSSHYSQPDK QGQSSHYGKI DRQDQSYHYG
510 520 530 540 550
QPDGQGQSSH YGQTDRQGQS FHYGQPDRQG QSSHYSQMDR QGQSSHYGQT
560 570 580 590 600
DRQGQSSHYG QTDRQGQSYH YGQTDRQGQS SHYIQSQTGE IQGQNKYFQG
610 620 630 640 650
TEGTRKASYV EQSGRSGRLS QQTPGQEGYQ NQGQGFQSRD SQQNGHQVWE
660 670 680 690 700
PEEDSQHHQH KLLAQIQQER PLCHKGRDWQ SCSSEQGHRQ AQTRQSHGEG
710 720 730 740 750
LSHWAEEEQG HQTWDRHSHE SQEGPCGTQD RRTHKDEQNH QRRDRQTHEH
760 770 780
EQSHQRRDRQ THEDKQNRQR RDRQTHEDEQ NHQR
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00530000063634.
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

Bgeei Q6XPR3.
CleanExi HS_RPTN.
ExpressionAtlasi Q6XPR3. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 89 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