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    PSORS1C1 psoriasis susceptibility 1 candidate 1 [ Homo sapiens (human) ]

    Gene ID: 170679, updated on 19-Sep-2024

    Summary

    Official Symbol
    PSORS1C1provided by HGNC
    Official Full Name
    psoriasis susceptibility 1 candidate 1provided by HGNC
    Primary source
    HGNC:HGNC:17202
    See related
    Ensembl:ENSG00000204540 MIM:613525; AllianceGenome:HGNC:17202
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEEK1; C6orf16
    Summary
    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]
    Expression
    Biased expression in testis (RPKM 11.7), skin (RPKM 0.9) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PSORS1C1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31114800..31140092)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30982528..31007786)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31082577..31107869)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31051567-31052066 Neighboring gene RNA, U6 small nuclear 1133, pseudogene Neighboring gene chromosome 6 open reading frame 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31084517-31085386 Neighboring gene corneodesmosin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31093168-31093768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31093769-31094369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31094370-31094969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31105363-31106343 Neighboring gene psoriasis susceptibility 1 candidate 2 Neighboring gene RNA polymerase II subunit L pseudogene 1 Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31123471-31124086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31124820-31125320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31125321-31125821

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
    EBI GWAS Catalog
    A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
    EBI GWAS Catalog
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
    EBI GWAS Catalog
    Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC132530, DKFZp686G23132

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    psoriasis susceptibility 1 candidate gene 1 protein
    Names
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021348.2 RefSeqGene

      Range
      5002..30294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014068.3NP_054787.2  psoriasis susceptibility 1 candidate gene 1 protein

      See identical proteins and their annotated locations for NP_054787.2

      Status: REVIEWED

      Source sequence(s)
      AL662844
      Consensus CDS
      CCDS34390.1
      UniProtKB/Swiss-Prot
      B0V083, Q5ST21, Q86WJ8, Q86WJ9, Q96QC3, Q9UIG5
      UniProtKB/TrEMBL
      A0A1U9X981, A0A1U9X984, A0A1U9X991, D2IYL0, Q2L6G9
      Related
      ENSP00000259881.9, ENST00000259881.10
      Conserved Domains (1) summary
      pfam15357
      Location:4152
      SEEK1; Psoriasis susceptibility 1 candidate 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31114800..31140092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2597175..2622485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2374164..2399422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2425314..2450617
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2458917..2484229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2372799..2398117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30982528..31007786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)