LOCUS       NM_014068                939 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1),
            mRNA.
ACCESSION   NM_014068
VERSION     NM_014068.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 939)
  AUTHORS   Jiang,Y., Mao,X., Song,R., Mu,K., Yang,Y. and Zhang,J.A.
  TITLE     Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1) Polymorphism is
            Associated with Autoimmune Thyroid Disease in a Chinese Han
            Population
  JOURNAL   Immunol Invest 51 (5), 1222-1231 (2022)
   PUBMED   34325607
  REMARK    GeneRIF: Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1)
            Polymorphism is Associated with Autoimmune Thyroid Disease in a
            Chinese Han Population.
REFERENCE   2  (bases 1 to 939)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 939)
  AUTHORS   Wisniewski,A., Matusiak,L., Szczerkowska-Dobosz,A., Nowak,I. and
            Kusnierczyk,P.
  TITLE     HLA-C*06:02-independent, gender-related association of PSORS1C3 and
            PSORS1C1/CDSN single-nucleotide polymorphisms with risk and
            severity of psoriasis
  JOURNAL   Mol Genet Genomics 293 (4), 957-966 (2018)
   PUBMED   29589160
  REMARK    GeneRIF: results show, for the first time, the male-only
            associations of the PSORS1C3 gene with psoriasis risk and of the
            PSORS1C1/CDSN gene with severity of disease. However, the age
            dependent associations need to be validated in larger sample sizes
            as well as in other populations.
REFERENCE   4  (bases 1 to 939)
  AUTHORS   Cheng,L., Sun,B., Xiong,Y., Hu,L., Gao,L., Lv,Q., Zhou,M., Li,J.,
            Chen,X., Zhang,W. and Zhou,H.H.
  TITLE     The minor alleles HCP5 rs3099844 A and PSORS1C1 rs3131003 G are
            associated with allopurinol-induced severe cutaneous adverse
            reactions in Han Chinese: a multicentre retrospective case-control
            clinical study
  JOURNAL   Br J Dermatol 178 (3), e191-e193 (2018)
   PUBMED   29193002
  REMARK    GeneRIF: The results of this study confirms the minor allele
            PSORS1C1 is positively associated with allopurinol-induced drug
            hypersensitivity.
REFERENCE   5  (bases 1 to 939)
  AUTHORS   Conigliaro,P., Ciccacci,C., Politi,C., Triggianese,P., Rufini,S.,
            Kroegler,B., Perricone,C., Latini,A., Novelli,G., Borgiani,P. and
            Perricone,R.
  TITLE     Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are
            Associated with the Response to TNF Inhibitors in Patients with
            Rheumatoid Arthritis
  JOURNAL   PLoS One 12 (1), e0169956 (2017)
   PUBMED   28107378
  REMARK    GeneRIF: Patients carrying PSORS1C1 variant allele rs2233945 did
            not reach low disease activity at 6 months in both the whole RA
            group and Etanercept treated patients.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 939)
  AUTHORS   Rahman,P., Butt,C., Siannis,F., Farewell,V.T., Peddle,L.,
            Pellett,F.J., Schentag,C. and Gladman,D.D.
  TITLE     Association of SEEK1 and psoriatic arthritis in two distinct
            Canadian populations
  JOURNAL   Ann Rheum Dis 64 (9), 1370-1372 (2005)
   PUBMED   15708881
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 939)
  AUTHORS   Chang,Y.T., Liu,H.N., Shiao,Y.M., Lin,M.W., Lee,D.D., Liu,M.T.,
            Wang,W.J., Wu,S., Lai,C.Y. and Tsai,S.F.
  TITLE     A study of PSORS1C1 gene polymorphisms in Chinese patients with
            psoriasis
  JOURNAL   Br J Dermatol 153 (1), 90-96 (2005)
   PUBMED   16029332
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 939)
  AUTHORS   Peddle,L., Zipperlen,K., Melay,B., Hefferton,D. and Rahman,P.
  TITLE     Association of SEEK1 polymorphisms in Crohn's disease
  JOURNAL   Hum Immunol 65 (7), 706-709 (2004)
   PUBMED   15301859
  REMARK    GeneRIF: SEEK1 polymorphisms +39604, +39709, and +26680 are not
            associated with Crohn's disease in the Newfoundland population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 939)
  AUTHORS   Holm,S.J., Carlen,L.M., Mallbris,L., Stahle-Backdahl,M. and
            O'Brien,K.P.
  TITLE     Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with
            psoriasis in the Swedish population
  JOURNAL   Exp Dermatol 12 (4), 435-444 (2003)
   PUBMED   12930300
  REMARK    GeneRIF: In a case-control study, five of the nine single
            nucleotide polymorphisms (SNPs) found in SEEK1 were associated with
            psoriasis, while one of the four SNPs found in SPR1 showed
            association.
REFERENCE   10 (bases 1 to 939)
  AUTHORS   Oka,A., Tamiya,G., Tomizawa,M., Ota,M., Katsuyama,Y., Makino,S.,
            Shiina,T., Yoshitome,M., Iizuka,M., Sasao,Y., Iwashita,K.,
            Kawakubo,Y., Sugai,J., Ozawa,A., Ohkido,M., Kimura,M., Bahram,S.
            and Inoko,H.
  TITLE     Association analysis using refined microsatellite markers localizes
            a susceptibility locus for psoriasis vulgaris within a 111 kb
            segment telomeric to the HLA-C gene
  JOURNAL   Hum Mol Genet 8 (12), 2165-2170 (1999)
   PUBMED   10545595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662844.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014068.2.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB031479.1, AF484418.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2144333,
                                           SAMEA2156266 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259881.10/ ENSP00000259881.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                AL662844.12        54288-54379
            93-256              AL662844.12        65164-65327
            257-333             AL662844.12        69057-69133
            334-363             AL662844.12        77918-77947
            364-487             AL662844.12        78144-78267
            488-939             AL662844.12        79129-79580
FEATURES             Location/Qualifiers
     source          1..939
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..939
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /note="psoriasis susceptibility 1 candidate 1"
                     /db_xref="GeneID:170679"
                     /db_xref="HGNC:HGNC:17202"
                     /db_xref="MIM:613525"
     exon            1..92
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /inference="alignment:Splign:2.1.0"
     exon            93..256
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /inference="alignment:Splign:2.1.0"
     exon            257..333
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             321..779
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /note="epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="psoriasis susceptibility 1 candidate gene 1
                     protein"
                     /protein_id="NP_054787.2"
                     /db_xref="CCDS:CCDS34390.1"
                     /db_xref="GeneID:170679"
                     /db_xref="HGNC:HGNC:17202"
                     /db_xref="MIM:613525"
                     /translation="MTCTDQKSHSQRALGTQTPALQGPQLLNTDPSSEETRPPHVNPD
                     RLCHMEPANHFWHAGDLQAMISKEFHLAATQDDCRKGRTQEDILVPSSHPELFASVLP
                     MAPEEAARLQQPQPLPPPSGIHLSASRTLAPTLLYSSPPSHSPFGLSSLI"
     exon            334..363
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /inference="alignment:Splign:2.1.0"
     exon            364..487
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /inference="alignment:Splign:2.1.0"
     exon            488..939
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      865..870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /note="hexamer: AATAAA"
     polyA_site      885
                     /gene="PSORS1C1"
                     /gene_synonym="C6orf16; SEEK1"
                     /note="major polyA site"
ORIGIN      
        1 gttgttgtgt cccagccttc ccaagcttcc aggtgtccca gaaacccagg aaatcgagac
       61 tcatgactcc cagagaggat ggcatctaga agtagacgat caagggtgga atctacagtc
      121 cgtgagccct gacttcttgc cttcgtctca aatagactct gcagccagcc atctatgcag
      181 cgccccagtg gctttgaaat gcaacagaaa ccatcacccc cggaccgtgg gctccatgcc
      241 agtgggcaaa gcacagcctg ggaagaattg gtttgcagcc aggcagtcct ccatccagtc
      301 ttgactttgg cacttgtgat atgacttgca cagaccaaaa aagtcactct caaagagctc
      361 tcggcacaca gaccccagct ttacaaggac cccagctcct taacacagat cccagctccg
      421 aggaaactcg tcccccccac gttaatcctg accgactttg ccacatggag ccagcaaacc
      481 atttctggca tgcaggggac ctccaagcaa tgatatccaa ggaattccat ctggcagcca
      541 cccaggatga ctgcagaaaa ggaaggacac aggaggatat cctggttccc tcttcccacc
      601 cagagctgtt tgcatcagtc ctgccaatgg ctccggaaga agctgccagg ctccagcaac
      661 ctcagcccct tcctcctccc tcaggaatcc acctatccgc ctctaggacc ttggctccaa
      721 ctctattgta ctcgtctcct ccctcccatt ctccttttgg tctcagctcc ttgatctaag
      781 cctcccagag agacccctag aacgtttccc tcaaggacct ttctgcctgg aagtctgtta
      841 gcctttcaga agtaacatgt ccaaaataaa atttgattcc tcccaggttg ttccctgcct
      901 ggtccgctac cccacagtaa ggaacacctt attatgcaa
//
