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Aliases for PSORS1C1 Gene

Aliases for PSORS1C1 Gene

  • Psoriasis Susceptibility 1 Candidate 1 2 3 5
  • C6orf16 3 4
  • SEEK1 3 4
  • Psoriasis Susceptibility 1 Candidate Gene 1 Protein 3
  • Chromosome 6 Open Reading Frame 16 2
  • Protein SEEK1 4

External Ids for PSORS1C1 Gene

Previous HGNC Symbols for PSORS1C1 Gene

  • C6orf16

Previous GeneCards Identifiers for PSORS1C1 Gene

  • GC00U991167
  • GC06U900361
  • GC06P031188
  • GC06P031190
  • GC06P031083
  • GC06P030885

Summaries for PSORS1C1 Gene

Entrez Gene Summary for PSORS1C1 Gene

  • This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]

GeneCards Summary for PSORS1C1 Gene

PSORS1C1 (Psoriasis Susceptibility 1 Candidate 1) is a Protein Coding gene. Diseases associated with PSORS1C1 include Psoriasis and Peeling Skin Syndrome.

Additional gene information for PSORS1C1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSORS1C1 Gene

Genomics for PSORS1C1 Gene

GeneHancer (GH) Regulatory Elements for PSORS1C1 Gene

Promoters and enhancers for PSORS1C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I031113 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 604.3 +0.2 157 2.5 FEZF1 RAD21 ZNF335 GLIS2 FOS EGR2 ZNF398 REST ZNF217 SP1 PSORS1C1 HCG22 MICB ENSG00000272501 POU5F1 HLA-C TRIM10 TCF19 CDSN
GH06I031124 Enhancer 0.9 Ensembl ENCODE 41.7 +11.4 11443 2.6 PKNOX1 ZIC2 ZFHX2 ZNF366 ATF7 FOS EGR2 RFX1 MAZ PHF21A PSORS1C1 PSORS1C2 CCHCR1 HCG22 POU5F1 HCG27 CDSN
GH06I031122 Enhancer 1.1 Ensembl ENCODE 27.7 +8.1 8084 1.6 FOXA2 MLX NFIB INSM2 KLF17 RFX5 EGR1 ZNF366 SCRT2 EGR2 HCG18 PSORS1C1 HCG22 PSORS1C2 MDC1 MICB LSM2 GTF2H4 DXO C6orf48
GH06I030879 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.1 -230.4 -230367 9.2 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 FOS DDR1 VARS2 HLA-C PSORS1C1 GNL1 PSORS1C3 SFTA2 HCG18 IER3 FLOT1
GH06I031137 Enhancer 1.2 Ensembl ENCODE 23.5 +23.0 22951 0.6 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 ZNF2 ZNF48 GLIS2 ARID2 PSORS1C2 PSORS1C1 HCG18 HCG27 ZBTB12 RPP21 PRR3 GTF2H4 DXO HLA-C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PSORS1C1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PSORS1C1 gene promoter:

Genomic Locations for PSORS1C1 Gene

Genomic Locations for PSORS1C1 Gene
chr6:31,114,750-31,140,092
(GRCh38/hg38)
Size:
25,343 bases
Orientation:
Plus strand
chr6:31,082,527-31,107,869
(GRCh37/hg19)

Genomic View for PSORS1C1 Gene

Genes around PSORS1C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSORS1C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSORS1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PSORS1C1 Gene

  • Protein details for PSORS1C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIG5-PS1C1_HUMAN
    Recommended name:
    Psoriasis susceptibility 1 candidate gene 1 protein
    Protein Accession:
    Q9UIG5
    Secondary Accessions:
    • B0V083
    • Q5ST21
    • Q86WJ8
    • Q86WJ9
    • Q96QC3

    Protein attributes for PSORS1C1 Gene

    Size:
    152 amino acids
    Molecular mass:
    16580 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB63314.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC54950.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PSORS1C1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSORS1C1 Gene

Post-translational modifications for PSORS1C1 Gene

No Post-translational modifications

Other Protein References for PSORS1C1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PSORS1C1 Gene

Domains & Families for PSORS1C1 Gene

Gene Families for PSORS1C1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PSORS1C1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSORS1C1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PSORS1C1: view

No data available for UniProtKB/Swiss-Prot for PSORS1C1 Gene

Function for PSORS1C1 Gene

Phenotypes From GWAS Catalog for PSORS1C1 Gene

genes like me logo Genes that share phenotypes with PSORS1C1: view

miRNA for PSORS1C1 Gene

miRTarBase miRNAs that target PSORS1C1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSORS1C1 Gene

Localization for PSORS1C1 Gene

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 PSORS1C1 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PSORS1C1 Gene

Pathways & Interactions for PSORS1C1 Gene

SuperPathways for PSORS1C1 Gene

No Data Available

Interacting Proteins for PSORS1C1 Gene

Gene Ontology (GO) - Biological Process for PSORS1C1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PSORS1C1 Gene

Drugs & Compounds for PSORS1C1 Gene

(1) Drugs for PSORS1C1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Allopurinol Approved Pharma 154
genes like me logo Genes that share compounds with PSORS1C1: view

Transcripts for PSORS1C1 Gene

mRNA/cDNA for PSORS1C1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSORS1C1 Gene

No ASD Table

Relevant External Links for PSORS1C1 Gene

GeneLoc Exon Structure for
PSORS1C1
ECgene alternative splicing isoforms for
PSORS1C1

Expression for PSORS1C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSORS1C1 Gene

mRNA differential expression in normal tissues according to GTEx for PSORS1C1 Gene

This gene is overexpressed in Testis (x26.1).

NURSA nuclear receptor signaling pathways regulating expression of PSORS1C1 Gene:

PSORS1C1

mRNA Expression by UniProt/SwissProt for PSORS1C1 Gene:

Q9UIG5-PS1C1_HUMAN
Tissue specificity: Expressed in skin. Also found in heart, placenta, liver, skeletal muscle and pancreas.
genes like me logo Genes that share expression patterns with PSORS1C1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSORS1C1 Gene

Orthologs for PSORS1C1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for PSORS1C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSORS1C1 33 34
  • 98.03 (n)
Species where no ortholog for PSORS1C1 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 PSORS1C1 Gene

ENSEMBL:
Gene Tree for PSORS1C1 (if available)
TreeFam:
Gene Tree for PSORS1C1 (if available)

Paralogs for PSORS1C1 Gene

(1) SIMAP similar genes for PSORS1C1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PSORS1C1: view

No data available for Paralogs for PSORS1C1 Gene

Variants for PSORS1C1 Gene

Sequence variations from dbSNP and Humsavar for PSORS1C1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs121917819 pathogenic, Hypotrichosis 2 31,116,972(+) G/A/C intron_variant
rs121917820 pathogenic, Hypotrichosis 2 31,117,017(+) G/A intron_variant
rs387906841 pathogenic, Peeling skin syndrome 31,117,440(+) T/A intron_variant
rs606231274 pathogenic, Peeling skin syndrome 31,117,448(+) AGGCAGG/AGGCAGGCAGG intron_variant
rs606231275 pathogenic, Peeling skin syndrome 31,117,191(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PSORS1C1 Gene

Variant ID Type Subtype PubMed ID
dgv1174e214 CNV gain 21293372
dgv382e215 CNV deletion 23714750
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv33699 CNV loss 17666407
esv3411275 CNV duplication 20981092
nsv1033227 CNV gain 25217958
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv524061 CNV loss 19592680
nsv525933 CNV loss 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv601490 CNV gain 21841781
nsv601491 CNV loss 21841781

Variation tolerance for PSORS1C1 Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSORS1C1 Gene

Human Gene Mutation Database (HGMD)
PSORS1C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSORS1C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSORS1C1 Gene

Disorders for PSORS1C1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PSORS1C1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
psoriasis
peeling skin syndrome
  • exfoliation syndrome
severe cutaneous adverse reaction
  • severe cutaneous adverse reaction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PSORS1C1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PSORS1C1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSORS1C1 Gene

Publications for PSORS1C1 Gene

  1. A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis. (PMID: 16029332) Chang YT … Tsai SF (The British journal of dermatology 2005) 3 22 44 58
  2. Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with psoriasis in the Swedish population. (PMID: 12930300) Holm SJ … O'Brien KP (Experimental dermatology 2003) 3 4 22 58
  3. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. (PMID: 21750679) Allanore Y … Martinez M (PLoS genetics 2011) 3 44 58
  4. Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. (PMID: 21801394) Génin E … Mockenhaupt M (Orphanet journal of rare diseases 2011) 3 44 58
  5. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 44 58

Products for PSORS1C1 Gene

Sources for PSORS1C1 Gene

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