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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. Diseases associated with RPTN include Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Keratinization and Developmental Biology. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FLG2.

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 , CIViC 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
GH01G152022 1.1 ENCODE dbSUPER 10 +135.2 135176 3.2 CTCF TAF1 SREBF2 INSM2 SIN3A RAD21 GATA3 GATA2 ZNF143 SMC3 ENSG00000229021 S100A11 THEM4 RPTN HRNR LOC100132111 PIR45655 LOC105371442
GH01G152459 1.1 Ensembl ENCODE 9.3 -301.1 -301076 1.4 SIX4 HDGF CTCF PKNOX1 MXI1 MAX YBX1 RAD21 ZFHX2 EGR1 CRCT1 LCE5A S100A11 RPTN CRNN PIR42758
GH01G152026 0.7 dbSUPER 10 +132.1 132057 1.7 PKNOX1 FOXA2 JUN SIN3A ZBTB40 CTBP1 GATA3 FOS FOSL2 PRDM10 S100A11 S100A10 ENSG00000229021 THEM4 RPTN LINGO4 TDRKH LOC100132111 PIR45655 LOC105371442
GH01G152458 0.7 ENCODE 9.3 -299.4 -299352 0.2 CTCF ZNF654 PKNOX1 TRIM22 RAD21 RFX5 GATA3 ZNF341 SMC3 ZNF143 FLG2 CRCT1 RPTN PIR42758 LCE5A
GH01G152461 0.7 ENCODE 9.3 -302.5 -302532 0.2 SRF CTCF ZNF654 RFX1 HLF TRIM22 CEBPB CEBPG BMI1 RAD21 CRCT1 LCE5A S100A11 RPTN PIR42758
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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.
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 --
GO:0046872 metal ion binding IEA --
GO:0046914 transition metal 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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPTN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for RPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPTN: view

Pathways & Interactions for RPTN Gene

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

Pathways by source for RPTN Gene

Interacting Proteins for RPTN Gene

Gene Ontology (GO) - Biological Process for RPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with RPTN: view

No data available for 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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for RPTN Gene

  • Skin(4.5)
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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPTN 34 35
  • 79.59 (n)
dog
(Canis familiaris)
Mammalia RPTN 34 35
  • 78.25 (n)
mouse
(Mus musculus)
Mammalia Rptn 34 16 35
  • 72.93 (n)
rat
(Rattus norvegicus)
Mammalia Rptn 34
  • 71.73 (n)
oppossum
(Monodelphis domestica)
Mammalia RPTN 35
  • 44 (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
rs1000437682 -- 152,159,010(+) CACAG(A/T)AGTAG intron-variant
rs1000477799 -- 152,155,338(+) CCAGT(C/G)TGTGA reference, missense
rs1001343280 -- 152,156,412(+) CACCG(A/G)TTTAA reference, synonymous-codon
rs1002242149 -- 152,157,014(+) ACTAA(G/T)ATGTG intron-variant
rs1003780838 -- 152,158,141(+) CTTAA(A/G)AAACA intron-variant

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

MalaCards: The human disease database

(1) MalaCards diseases for RPTN Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards
Search RPTN in MalaCards View complete list of genes associated with diseases

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

No data available for 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 64
  2. Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis. (PMID: 28219068) Trzeciak M. … Pawelczyk T. (Int. Arch. Allergy Immunol. 2017) 3 64
  3. Diminished serum repetin levels in patients with schizophrenia and bipolar disorder. (PMID: 25613293) Wang S. … Zhao L. (Sci Rep 2015) 3 64
  4. 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 64
  5. Defining the human deubiquitinating enzyme interaction landscape. (PMID: 19615732) Sowa M.E. … Harper J.W. (Cell 2009) 3 64

Products for RPTN Gene

Sources for RPTN Gene

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