Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RPTN Gene

Aliases for RPTN Gene

  • Repetin 2 3

External Ids for RPTN Gene

Previous GeneCards Identifiers for RPTN Gene

  • GC01M148940
  • GC01M150394
  • GC01M123503

Summaries for RPTN Gene

GeneCards Summary for RPTN Gene

RPTN (Repetin) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TCHHL1.

UniProtKB/Swiss-Prot for RPTN Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPTN Gene

Genomics for RPTN Gene

Regulatory Elements for RPTN Gene

Genomic Location for RPTN Gene

Start:
152,153,595 bp from pter
End:
152,159,228 bp from pter
Size:
5,634 bases
Orientation:
Minus strand

Genomic View for RPTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RPTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPTN Gene

Proteins for RPTN Gene

  • Protein details for RPTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6XPR3-RPTN_HUMAN
    Recommended name:
    Repetin
    Protein Accession:
    Q6XPR3
    Secondary Accessions:
    • B7ZBZ3

    Protein attributes for RPTN Gene

    Size:
    784 amino acids
    Molecular mass:
    90731 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RPTN Gene

Proteomics data for RPTN Gene at MOPED

Post-translational modifications for RPTN Gene

  • Potential substrate of transglutaminase. Some arginines are probably converted to citrullines by peptidylarginine deimidase
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPTN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPTN Gene

Domains for RPTN Gene

Gene Families for RPTN Gene

HGNC:
  • EFHAND :EF-hand domain containing

Graphical View of Domain Structure for InterPro Entry

Q6XPR3

UniProtKB/Swiss-Prot:

RPTN_HUMAN :
  • Q6XPR3
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
  • Contains 2 EF-hand domains.
Family:
  • Belongs to the S100-fused protein family.
genes like me logo Genes that share domains with RPTN: view

Function for RPTN Gene

Molecular function for RPTN Gene

UniProtKB/Swiss-Prot Function: Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium

Gene Ontology (GO) - Molecular Function for RPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with RPTN: view

Phenotypes for RPTN Gene

genes like me logo Genes that share phenotypes with RPTN: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RPTN Gene

Localization for RPTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPTN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPTN Gene COMPARTMENTS Subcellular localization image for RPTN gene
Compartment Confidence
extracellular 5
cytosol 3
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for RPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with RPTN: view

Pathways for RPTN Gene

SuperPathways for RPTN Gene

No Data Available

Interacting Proteins for RPTN Gene

Gene Ontology (GO) - Biological Process for RPTN Gene

None

No data available for Pathways by source for RPTN Gene

Compounds for RPTN Gene

(1) HMDB Compounds for RPTN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with RPTN: view

Transcripts for RPTN Gene

mRNA/cDNA for RPTN Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RPTN Gene

Repetin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPTN Gene

No ASD Table

Relevant External Links for RPTN Gene

GeneLoc Exon Structure for
RPTN
ECgene alternative splicing isoforms for
RPTN

Expression for RPTN Gene

mRNA expression in normal human tissues for RPTN Gene

mRNA differential expression in normal tissues according to GTEx for RPTN Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (15.7), Vagina (14.3), Cervix - Ectocervix (10.5), and Skin - Not Sun Exposed (Suprapubic) (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RPTN Gene

SOURCE GeneReport for Unigene cluster for RPTN Gene Hs.376144

mRNA Expression by UniProt/SwissProt for RPTN Gene

Q6XPR3-RPTN_HUMAN
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.
genes like me logo Genes that share expressions with RPTN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RPTN Gene

Orthologs for RPTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPTN 36
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPTN 35
  • 79.59 (n)
  • 68.65 (a)
RPTN 36
  • 39 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPTN 35
  • 78.25 (n)
  • 67.82 (a)
RPTN 36
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rptn 35
  • 72.93 (n)
  • 57.59 (a)
Rptn 16
Rptn 36
  • 28 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPTN 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rptn 35
  • 71.73 (n)
  • 55.88 (a)
chicken
(Gallus gallus)
Aves CRNN 36
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 17 (a)
OneToMany
Species with no ortholog for RPTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RPTN Gene

ENSEMBL:
Gene Tree for RPTN (if available)
TreeFam:
Gene Tree for RPTN (if available)

Paralogs for RPTN Gene

Paralogs for RPTN Gene

Selected SIMAP similar genes for RPTN Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RPTN: view

Variants for RPTN Gene

Sequence variations from dbSNP and Humsavar for RPTN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3001978 -- 152,153,991(+) CCAAA(C/T)CTAGG utr-variant-3-prime
rs10494274 -- 152,160,394(-) TGAAG(C/G)TCACC upstream-variant-2KB
rs11204926 -- 152,153,150(+) CCTGT(C/T)ATGTG downstream-variant-500B
rs12024745 -- 152,161,097(+) GGAAG(A/G)TAGAT upstream-variant-2KB
rs12031012 -- 152,159,727(+) TTTGG(C/T)TATTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RPTN Gene

Variant ID Type Subtype PubMed ID
nsv872442 CNV Gain 21882294
nsv482125 CNV Loss 20164927
esv2659441 CNV Deletion 23128226
esv2718084 CNV Deletion 23290073
esv2221423 CNV Deletion 18987734
esv2718095 CNV Deletion 23290073

Relevant External Links for RPTN Gene

HapMap Linkage Disequilibrium report
RPTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPTN Gene

Disorders for RPTN Gene

Relevant External Links for RPTN

Genetic Association Database (GAD)
RPTN
Human Genome Epidemiology (HuGE) Navigator
RPTN
genes like me logo Genes that share disorders with RPTN: view

No data available for UniProtKB/Swiss-Prot for RPTN Gene

Publications for RPTN Gene

  1. Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. (PMID: 15854042) Huber M. … Hohl D. (J. Invest. Dermatol. 2005) 2 3 4 23
  2. Effects of fibroblasts and microenvironment on epidermal regeneration and tissue function in long-term skin equivalents. (PMID: 17292509) Boehnke K. … Stark H.J. (Eur. J. Cell Biol. 2007) 23
  3. Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. (PMID: 19122646) de Juanes S. … Krieg P. (J. Invest. Dermatol. 2009) 23
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for RPTN Gene

Sources for RPTN Gene

Back to Top

Content