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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PSORS1C1 Gene

protein-coding   GIFtS: 41
GCID: GC06P031083

Psoriasis Susceptibility 1 Candidate 1

(Previous name: chromosome 6 open reading frame 16)
(Previous symbol: C6orf16)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Psoriasis Susceptibility 1 Candidate 11 2
C6orf161 2 3
SEEK12 3
Chromosome 6 Open Reading Frame 161
Psoriasis Susceptibility 1 Candidate Gene 1 Protein2
Protein SEEK13

External Ids:    HGNC: 172021   Entrez Gene: 1706792   Ensembl: ENSG000002045407   OMIM: 6135255   UniProtKB: Q9UIG53   

Export aliases for PSORS1C1 gene to outside databases

Previous GC identifers: GC00U991167 GC06U900361 GC06P031188 GC06P031190 GC06P030885


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 psoriasis susceptibility 1.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PSORS1C1 gene promoter:
         Max   MyoD   MIF-1   ITF-2   TGIF   Tal-1beta   E47   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSORS1C1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PSORS1C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSORS1C1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

PSORS1C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSORS1C1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031083:  view genomic region     (about GC identifiers)

Start:
31,082,527 bp from pter      End:
31,107,869 bp from pter
Size:
25,343 bases      Orientation:
plus strand

5 alternative locations:
Chr6+,NT_167246 2,430,965-2,456,237      Chr6+,NT_167248 2,378,426-2,403,713      Chr6+,NT_167245 2,379,780-2,405,007     
Chr6+,NT_113891.2 2,597,312-2,622,591      Chr6+,NT_167247 2,464,533-2,489,814     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PS1C1_HUMAN, Q9UIG5 (See protein sequence)
Recommended Name: Psoriasis susceptibility 1 candidate gene 1 protein  
Size: 152 amino acids; 16580 Da
Sequence caution: Sequence=BAB63314.1; Type=Erroneous gene model prediction; Sequence=BAC54950.1; Type=Erroneous
gene model prediction;
Secondary accessions: B0V083 Q5ST21 Q86WJ8 Q86WJ9 Q96QC3
Alternative splicing: 2 isoforms:  Q9UIG5-1   Q9UIG5-2   

Explore the universe of human proteins at neXtProt for PSORS1C1: NX_Q9UIG5

Explore proteomics data for PSORS1C1 at MOPED 

PSORS1C1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

PSORS1C1 Protein Expression

REFSEQ proteins: NP_054787.2  
ENSEMBL proteins: 
 ENSP00000259881   ENSP00000449471   ENSP00000447158  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q9UIG5


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for PSORS1C1 
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miRNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PSORS1C1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PSORS1C1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PSORS1C1 (PS1C1)

1 PharmGKB related drug/compound annotation for PSORS1C1 gene    About this table
Drug/compound PharmGKB Annotation
allopurinolCA  

Search CenterWatch for drugs/clinical trials and news about PSORS1C1 / PS1C1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PSORS1C1 gene: 
NM_014068.2  

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000467107 ENST00000548049 ENST00000493289 ENST00000479581 ENST00000259881(uc003nsl.2 uc010jsj.2 uc003nsn.2)
ENST00000550838 ENST00000552747 ENST00000547221 ENST00000481450
miRNA
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Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PSORS1C1
Clone
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                     Customized lentivirus expression plasmids for stable overexpression of PSORS1C1 
Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PSORS1C1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PSORS1C1

19 AceView cDNA sequences:

BX640954 BI825917 NM_014068 AF484419 AB031479 AI874399 AF484418 AI343394 
BI009541 BM808976 AA045454 AA045072 AI765106 BE140469 BE140467 AI243345 
BF817757 BE042193 BG899994 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PSORS1C1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
PSORS1C1 Expression
About this image


See PSORS1C1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PSORS1C1

UniProtKB/Swiss-Prot: PS1C1_HUMAN, Q9UIG5
Tissue specificity: Expressed in skin. Also found in heart, placenta, liver, skeletal muscle and pancreas

    SABiosciences Custom PCR Arrays for PSORS1C1
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PSORS1C1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSORS1C1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

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

Orthologs for PSORS1C1 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia PSORS1C11 psoriasis susceptibility 1 candidate 1 98.03(n)
96.05(a)
  100169686  NM_001128140.1  NP_001121612.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for PSORS1C1 gene
1 SIMAP similar gene for PSORS1C1 using alignment to 4 protein entries:     PS1C1_HUMAN (see all proteins):
C6orf16

PSORS1C1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/830 SNPs in PSORS1C1 are shown (see all 830)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1219178191,2
Cpathogenic131001678(-) CCAACC/TAGCGT 1 -- int10--------
rs1219178201,2
Cpathogenic131001723(-) CTTCCC/TAGACC 1 -- int10--------
VAR_0173924
----see VAR_0173922 E Q mis40--------
rs1807660201,2
--30997545(+) CCTCCC/TCAGCC 1 -- us2k10--------
rs1864891281,2
--30997598(+) CTCTTA/GATTGC 1 -- us2k10--------
rs12650511,2
C--30997636(-) CTCCCA/CAAAAG 1 -- us2k14Minor allele frequency- C:0.27NA WA EA 360
rs44953041,2
C,F,H--30997650(+) GATTGT/CTTCCT 1 -- us2k119Minor allele frequency- C:0.10NS EA NA 2522
rs44860651,2
C--30997665(+) GCACCC/GCTTTC 1 -- us2k1 trp33Minor allele frequency- G:0.27NA EA 242
rs12650501,2
C,F,A,H--30997673(-) ATGCAT/CGAGAA 1 -- us2k115Minor allele frequency- C:0.43MN NS EA NA WA CSA 967
rs22339671,2
C,F,H--30997760(-) CTCATG/CTAGGA 1 -- us2k118Minor allele frequency- C:0.17NS EA NA WA 2326

HapMap Linkage Disequilibrium report for PSORS1C1 (31082527 - 31107869 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for PSORS1C1:    About this table     
Variant IDTypeSubtypePubMed ID
esv2731791CNV Deletion23290073
esv33699CNV Loss17666407
nsv524061CNV Loss19592680
nsv884137CNV Loss21882294
nsv525933CNV Loss19592680
nsv428140CNV Gain+Loss18775914
esv690CNV CNV17122850
dgv1919e1CNV Complex17122850
dgv1918e1CNV Complex17122850


Human Gene Mutation Database (HGMD): PSORS1C1
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing PSORS1C1
DNA2.0 Custom Variant and Variant Library Synthesis for PSORS1C1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 613525    OMIM disorders: --

10 diseases for PSORS1C1:    About MalaCards
psoriasis    psoriasis susceptibility 1    toxic epidermal necrolysis    stevens-johnson syndrome
psoriatic arthritis    kawasaki disease    crohn's disease    systemic lupus erythematosus
lupus erythematosus    arthritis

1 disease from the University of Copenhagen DISEASES database for PSORS1C1:
Stevens-Johnson syndrome

PSORS1C1 for disorders           About GeneDecksing

Genetic Association Database (GAD): PSORS1C1
Human Genome Epidemiology (HuGE) Navigator: PSORS1C1 (8 documents)

Export disorders for PSORS1C1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for PSORS1C1 gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with PSORS1C1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis. (PubMed id 16029332)1, 4, 9 Chang Y.T....Tsai S.F. (2005)
  2. Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with psoriasis in the Swedish population. (PubMed id 12930300)1, 2, 9 Holm S.J....O'Brien K.P. (2003)
  3. Genome-wide association study of Stevens-Johnson Synd rome and Toxic Epidermal Necrolysis in Europe. (PubMed id 21801394)1, 4 GAcnin E....Mockenhaupt M. (2011)
  4. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. (PubMed id 21750679)1, 4 Allanore Y....Martinez M. (2011)
  5. Genome-wide association study of hematological and bi ochemical traits in a Japanese population. (PubMed id 20139978)1, 4 Kamatani Y....Kamatani N. (2010)
  6. Common genetic variation and the control of HIV-1 in humans. (PubMed id 20041166)1, 4 Fellay J....Goldstein D.B. (2009)
  7. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)
  8. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). (PubMed id 19115949)1, 4 Limou S....Zagury J.F. (2009)
  9. Genetic variants in the HLA-G region are associated with Kawasaki disease. (PubMed id 18976687)1, 4 Kim J.J....Lee J.K. (2008)
  10. Association of SEEK1 and psoriatic arthritis in two distinct Canadian populations. (PubMed id 15708881)1, 4 Rahman P....Gladman D.D. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 170679 HGNC: 17202 AceView: PSORS1C1 Ensembl:ENSG00000204540 euGenes: HUgn170679
ECgene: PSORS1C1 H-InvDB: PSORS1C1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for PSORS1C1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for PSORS1C1 gene:
Search GeneIP for patents involving PSORS1C1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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