LOCUS       NM_014069                868 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens psoriasis susceptibility 1 candidate 2 (PSORS1C2),
            mRNA.
ACCESSION   NM_014069
VERSION     NM_014069.3
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 868)
  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   2  (bases 1 to 868)
  AUTHORS   Abbas Zadeh,S., Mlitz,V., Lachner,J., Golabi,B., Mildner,M.,
            Pammer,J., Tschachler,E. and Eckhart,L.
  TITLE     Phylogenetic profiling and gene expression studies implicate a
            primary role of PSORS1C2 in terminal differentiation of
            keratinocytes
  JOURNAL   Exp Dermatol 26 (4), 352-358 (2017)
   PUBMED   27943452
  REMARK    GeneRIF: In summary, our results identify PSORS1C2 as a
            keratinocyte cornification-associated protein that has originated
            in evolutionarily basal mammals and has undergone gene inactivation
            in association with the loss of the skin barrier function in
            aquatic mammals.
REFERENCE   3  (bases 1 to 868)
  AUTHORS   Chubb,D., Weinhold,N., Broderick,P., Chen,B., Johnson,D.C.,
            Forsti,A., Vijayakrishnan,J., Migliorini,G., Dobbins,S.E.,
            Holroyd,A., Hose,D., Walker,B.A., Davies,F.E., Gregory,W.A.,
            Jackson,G.H., Irving,J.A., Pratt,G., Fegan,C., Fenton,J.A.,
            Neben,K., Hoffmann,P., Nothen,M.M., Muhleisen,T.W., Eisele,L.,
            Ross,F.M., Straka,C., Einsele,H., Langer,C., Dorner,E., Allan,J.M.,
            Jauch,A., Morgan,G.J., Hemminki,K., Houlston,R.S. and
            Goldschmidt,H.
  TITLE     Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences
            multiple myeloma risk
  JOURNAL   Nat Genet 45 (10), 1221-1225 (2013)
   PUBMED   23955597
REFERENCE   4  (bases 1 to 868)
  AUTHORS   Li,J., Glessner,J.T., Zhang,H., Hou,C., Wei,Z., Bradfield,J.P.,
            Mentch,F.D., Guo,Y., Kim,C., Xia,Q., Chiavacci,R.M., Thomas,K.A.,
            Qiu,H., Grant,S.F., Furth,S.L., Hakonarson,H. and Sleiman,P.M.
  TITLE     GWAS of blood cell traits identifies novel associated loci and
            epistatic interactions in Caucasian and African-American children
  JOURNAL   Hum Mol Genet 22 (7), 1457-1464 (2013)
   PUBMED   23263863
REFERENCE   5  (bases 1 to 868)
  AUTHORS   Kim,D.K., Cho,M.H., Hersh,C.P., Lomas,D.A., Miller,B.E., Kong,X.,
            Bakke,P., Gulsvik,A., Agusti,A., Wouters,E., Celli,B., Coxson,H.,
            Vestbo,J., MacNee,W., Yates,J.C., Rennard,S., Litonjua,A., Qiu,W.,
            Beaty,T.H., Crapo,J.D., Riley,J.H., Tal-Singer,R. and
            Silverman,E.K.
  CONSRTM   ECLIPSE, ICGN, and COPDGene Investigators
  TITLE     Genome-wide association analysis of blood biomarkers in chronic
            obstructive pulmonary disease
  JOURNAL   Am J Respir Crit Care Med 186 (12), 1238-1247 (2012)
   PUBMED   23144326
REFERENCE   6  (bases 1 to 868)
  AUTHORS   Szczerkowska-Dobosz,A., Rebala,K., Szczerkowska,Z. and
            Witkowska-Tobola,A.
  TITLE     Correlation of HLA-Cw*06 allele frequency with some clinical
            features of psoriasis vulgaris in the population of northern Poland
  JOURNAL   J Appl Genet 45 (4), 473-476 (2004)
   PUBMED   15523160
  REMARK    GeneRIF: HLA-Cw*06 allele frequency is associated with psoriasis
REFERENCE   7  (bases 1 to 868)
  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   8  (bases 1 to 868)
  AUTHORS   Chang,Y.T., Tsai,S.F., Lin,M.W., Liu,H.N., Lee,D.D., Shiao,Y.M.,
            Chin,P.J. and Wang,W.J.
  TITLE     SPR1 gene near HLA-C is unlikely to be a psoriasis susceptibility
            gene
  JOURNAL   Exp Dermatol 12 (3), 307-314 (2003)
   PUBMED   12823445
  REMARK    GeneRIF: HLA-Cw6 remains the major risk allele in Chinese
            psoriatics, and that the SPR1 gene might not play an important role
            in the causation of PV.
REFERENCE   9  (bases 1 to 868)
  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
REFERENCE   10 (bases 1 to 868)
  AUTHORS   Steinert,P.M. and Marekov,L.N.
  TITLE     Direct evidence that involucrin is a major early isopeptide
            cross-linked component of the keratinocyte cornified cell envelope
  JOURNAL   J Biol Chem 272 (3), 2021-2030 (1997)
   PUBMED   8999895
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF484420.1 and AL662844.12.
            
            On Nov 22, 2018 this sequence version replaced NM_014069.2.
            
            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 :: AB031480.1, AF484420.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259845.5/ ENSP00000259845.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-287               AF484420.1         285-571
            288-288             AL662844.12        77602-77602         c
            289-545             AF484420.1         573-829
            546-766             AL662844.12        77124-77344         c
            767-868             AF484420.1         1051-1152
FEATURES             Location/Qualifiers
     source          1..868
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..868
                     /gene="PSORS1C2"
                     /gene_synonym="C6orf17; SPR1"
                     /note="psoriasis susceptibility 1 candidate 2"
                     /db_xref="GeneID:170680"
                     /db_xref="HGNC:HGNC:17199"
                     /db_xref="MIM:613526"
     exon            1..95
                     /gene="PSORS1C2"
                     /gene_synonym="C6orf17; SPR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..451
                     /gene="PSORS1C2"
                     /gene_synonym="C6orf17; SPR1"
                     /note="psoriasis susceptibility 1 candidate gene 2
                     protein"
                     /codon_start=1
                     /product="psoriasis susceptibility 1 candidate gene 2
                     protein precursor"
                     /protein_id="NP_054788.2"
                     /db_xref="CCDS:CCDS4694.1"
                     /db_xref="GeneID:170680"
                     /db_xref="HGNC:HGNC:17199"
                     /db_xref="MIM:613526"
                     /translation="MILNWKLLGILVLCLHTRGISGSEGHPSHPPAEDREEAGSPTLP
                     QGPPVPGDPWPGAPPLFEDPPPTRPSRPWRDLPETGVWLPEPPRTDPPQPPRPDDPWP
                     AGPQPPENPWPPAPEVDNRPQEEPDLDPPREEYR"
     exon            96..868
                     /gene="PSORS1C2"
                     /gene_synonym="C6orf17; SPR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      847..852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSORS1C2"
                     /gene_synonym="C6orf17; SPR1"
                     /note="hexamer: AATAAA"
     polyA_site      868
                     /gene="PSORS1C2"
                     /gene_synonym="C6orf17; SPR1"
                     /note="major polyA site"
ORIGIN      
        1 agactcagcc caccccagct ttgggggcca gtacatagcc atgatcctca actggaagct
       61 cctggggatc ctggtccttt gcctgcacac cagaggcatc tcaggcagcg agggccaccc
      121 ctctcaccca cccgcagagg accgagagga ggcaggctcc ccaacattgc ctcagggccc
      181 cccagtcccc ggtgaccctt ggccaggggc accccctctc tttgaagatc ctccgcctac
      241 ccgccccagt cgtccctgga gagacctgcc tgaaactgga gtctggctcc ctgaaccgcc
      301 tagaacggat cctcctcaac ctccccggcc tgacgaccct tggccggcag gaccccagcc
      361 cccagaaaac ccctggcctc ctgcccctga ggtggacaac cgacctcagg aggagccaga
      421 cctagaccca ccccgggaag agtacagata atggagtccc ctcagccgtt ctgttcccag
      481 gcatctccag gcacccacgc cctctccacc ctctgattcc ccgtgaattc ttcccaattt
      541 agcctgtctc cttaaacctc ttcctcattc cctcggtttt attctgaacc cgtaaggtgg
      601 tgttctcaat atttcctgtc ccctcctgag atccatactt agtcctcaca tcgcccgttt
      661 tttcctctga cagcctaagc ctactctcct acctcgcctc caggcctcgg ccgcacctac
      721 ctcccacccg gtcttcctgc ccgcgcgatc gctggggcag ggctatggta ctgtgttccc
      781 ttctgccacc tggtggccgg cggcaggaac tatcagtaga cagctgctgc ttccatgaaa
      841 cggaaaaata aaaatcatgt tttcttaa
//
