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Aliases for RPTN Gene

Aliases for RPTN Gene

  • Repetin 2 3 3 5
  • Intermediate Filament-Associated Protein 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

Enhancers for RPTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around RPTN on UCSC Golden Path with GeneCards custom track

Genomic Location for RPTN Gene

Chromosome:
1
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

Genes around RPTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for RPTN Gene

Gene Families for RPTN Gene

Graphical View of Domain Structure for InterPro Entry

Q6XPR3

UniProtKB/Swiss-Prot:

RPTN_HUMAN :
  • 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.
  • Belongs to the S100-fused protein family.
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
genes like me logo Genes that share phenotypes with RPTN: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
nucleus 2
plasma membrane 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 & Interactions 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 and SIGNOR curated interactions for RPTN Gene

Drugs & Compounds for RPTN Gene

(1) Drugs for RPTN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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) (x15.7), Vagina (x14.3), Cervix - Ectocervix (x10.5), and Skin - Not Sun Exposed (Suprapubic) (x8.9).

Protein differential expression in normal tissues from HIPED for RPTN Gene

This gene is overexpressed in Urine (49.8), Cervix (11.3), and Saliva (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RPTN Gene



Protein tissue co-expression partners for RPTN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPTN Gene:

RPTN

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 expression patterns with RPTN: view

Primer Products

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
cow
(Bos Taurus)
Mammalia RPTN 34
  • 79.59 (n)
  • 68.65 (a)
RPTN 35
  • 39 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPTN 34
  • 78.25 (n)
  • 67.82 (a)
RPTN 35
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rptn 34
  • 72.93 (n)
  • 57.59 (a)
Rptn 16
Rptn 35
  • 28 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rptn 34
  • 71.73 (n)
  • 55.88 (a)
oppossum
(Monodelphis domestica)
Mammalia RPTN 35
  • 44 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPTN 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 35
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 17 (a)
OneToMany
Species where no ortholog for RPTN was found in the sources mined by GeneCards:
  • 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

(14) 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
rs12117644 - 152,156,141(+) CTGAC(C/T)GTAGT reference, missense
rs3001978 -- 152,153,991(+) CCAAA(C/T)CTAGG utr-variant-3-prime
rs10494274 -- 152,160,394(-) TGAAG(C/G/T)TCACC upstream-variant-2KB
rs11204926 -- 152,153,150(+) CCTGT(C/T)ATGTG downstream-variant-500B
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
esv2221423 CNV deletion 18987734
esv2659441 CNV deletion 23128226
esv2718084 CNV deletion 23290073
esv2718095 CNV deletion 23290073
nsv1007097 CNV gain 25217958
nsv1014095 CNV gain 25217958
nsv482125 CNV loss 20164927
nsv547853 CNV gain 21841781

Variation tolerance for RPTN Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPTN Gene

Human Gene Mutation Database (HGMD)
RPTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPTN

No disorders were found for RPTN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 65
  2. Diminished serum repetin levels in patients with schizophrenia and bipolar disorder. (PMID: 25613293) Wang S. … Zhao L. (Sci Rep 2015) 3 65
  3. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PMID: 21083371) Chinn L.W. … O'Brien S.J. (J. Infect. Dis. 2010) 46 65
  4. Defining the human deubiquitinating enzyme interaction landscape. (PMID: 19615732) Sowa M.E. … Harper J.W. (Cell 2009) 3 65
  5. Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. (PMID: 19122646) de Juanes S. … Krieg P. (J. Invest. Dermatol. 2009) 22 65

Products for RPTN Gene

Sources for RPTN Gene

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