LOCUS       NM_001122965            3569 bp    mRNA    linear   PRI 05-JUN-2024
DEFINITION  Homo sapiens repetin (RPTN), mRNA.
ACCESSION   NM_001122965 XM_001721513 XM_001724407 XM_937200
VERSION     NM_001122965.1
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 3569)
  AUTHORS   Pospiech,E., Lee,S.D., Kukla-Bartoszek,M., Karlowska-Pik,J.,
            Wozniak,A., Boron,M., Zubanska,M., Bronikowska,A., Hong,S.R.,
            Lee,J.H., Wojas-Pelc,A., Lee,H.Y., Spolnicka,M. and Branicki,W.
  TITLE     Variation in the RPTN gene may facilitate straight hair formation
            in Europeans and East Asians
  JOURNAL   J Dermatol Sci 91 (3), 331-334 (2018)
   PUBMED   29935789
  REMARK    GeneRIF: Letter: RPTN gene is associated with straight hair in
            Europeans and East Asians. Genetics of straight hair may to some
            degree overlap between these two ancestry groups.
REFERENCE   2  (bases 1 to 3569)
  AUTHORS   Trzeciak,M., Sakowicz-Burkiewicz,M., Wesserling,M., Glen,J.,
            Dobaczewska,D., Bandurski,T., Nowicki,R. and Pawelczyk,T.
  TITLE     Altered Expression of Genes Encoding Cornulin and Repetin in Atopic
            Dermatitis
  JOURNAL   Int Arch Allergy Immunol 172 (1), 11-19 (2017)
   PUBMED   28219068
  REMARK    GeneRIF: The single-nucleotide polymorphisms of CRNN (rs941934) and
            RPTN (rs3001978, rs28441202) may contribute to Atopic Dermatitis
            development, but further studies on a larger group of Atopic
            Dermatitis patients are needed to verify this assumption.
REFERENCE   3  (bases 1 to 3569)
  AUTHORS   Wang,S., Ren,H., Xu,J., Yu,Y., Han,S., Qiao,H., Cheng,S., Xu,C.,
            An,S., Ju,B., Yu,C., Wang,C., Wang,T., Yang,Z., Taylor,E.W. and
            Zhao,L.
  TITLE     Diminished serum repetin levels in patients with schizophrenia and
            bipolar disorder
  JOURNAL   Sci Rep 5, 7977 (2015)
   PUBMED   25613293
  REMARK    GeneRIF: RPTN plays a potential role in emotional and cognitive
            processing; its decrease in serum may indicate its involvement in
            the pathogenesis of schizophrenia and bipolar disorder
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3569)
  AUTHORS   Huber,M., Siegenthaler,G., Mirancea,N., Marenholz,I., Nizetic,D.,
            Breitkreutz,D., Mischke,D. and Hohl,D.
  TITLE     Isolation and characterization of human repetin, a member of the
            fused gene family of the epidermal differentiation complex
  JOURNAL   J Invest Dermatol 124 (5), 998-1007 (2005)
   PUBMED   15854042
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY396742.1.
            
            On or before Apr 4, 2008 this sequence version replaced
            XM_937200.2, XM_001721513.1, XM_001724407.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY396742.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316073.3/ ENSP00000317895.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3569              AY396742.1         1-3569
FEATURES             Location/Qualifiers
     source          1..3569
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..3569
                     /gene="RPTN"
                     /note="repetin"
                     /db_xref="GeneID:126638"
                     /db_xref="HGNC:HGNC:26809"
                     /db_xref="MIM:613259"
     exon            1..45
                     /gene="RPTN"
                     /inference="alignment:Splign:2.1.0"
     exon            46..203
                     /gene="RPTN"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..2420
                     /gene="RPTN"
                     /note="intermediate filament-associated protein"
                     /codon_start=1
                     /product="repetin"
                     /protein_id="NP_001116437.1"
                     /db_xref="CCDS:CCDS41397.1"
                     /db_xref="GeneID:126638"
                     /db_xref="HGNC:HGNC:26809"
                     /db_xref="MIM:613259"
                     /translation="MAQLLNSILSVIDVFHKYAKGNGDCALLCKEELKQLLLAEFGDI
                     LQRPNDPETVETILNLLDQDRDGHIDFHEYLLLVFQLVQACYHKLDNKSHGGRTSQQE
                     RGQEGAQDCKFPGNTGRQHRQRHEEERQNSHHSQPERQDGDSHHGQPERQDRDSHHGQ
                     SEKQDRDSHHSQPERQDRDSHHNQSERQDKDFSFDQSERQSQDSSSGKKVSHKSTSGQ
                     AKWQGHIFALNRCEKPIQDSHYGQSERHTQQSETLGQASHFNQTNQQKSGSYCGQSER
                     LGQELGCGQTDRQGQSSHYGQTDRQDQSYHYGQTDRQGQSSHYSQTDRQGQSSHYSQP
                     DRQGQSSHYGQMDRKGQCYHYDQTNRQGQGSHYSQPNRQGQSSHYGQPDTQDQSSHYG
                     QTDRQDQSSHYGQTERQGQSSHYSQMDRQGQGSHYGQTDRQGQSSHYGQPDRQGQNSH
                     YGQTDRQGQSSHYGQTDRQGQSSHYSQPDKQGQSSHYGKIDRQDQSYHYGQPDGQGQS
                     SHYGQTDRQGQSFHYGQPDRQGQSSHYSQMDRQGQSSHYGQTDRQGQSSHYGQTDRQG
                     QSYHYGQTDRQGQSSHYIQSQTGEIQGQNKYFQGTEGTRKASYVEQSGRSGRLSQQTP
                     GQEGYQNQGQGFQSRDSQQNGHQVWEPEEDSQHHQHKLLAQIQQERPLCHKGRDWQSC
                     SSEQGHRQAQTRQSHGEGLSHWAEEEQGHQTWDRHSHESQEGPCGTQDRRTHKDEQNH
                     QRRDRQTHEHEQSHQRRDRQTHEDKQNRQRRDRQTHEDEQNHQR"
     exon            204..3569
                     /gene="RPTN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3549..3554
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPTN"
     polyA_site      3569
                     /gene="RPTN"
ORIGIN      
        1 atcctctctg actcctgaat cttctgctcc ttcctcctca agcaggttca cccgtacttg
       61 tcaaaatggc tcaactcctg aatagcatac tcagtgtgat tgacgtattc cacaaatatg
      121 ccaaagggaa tggggactgt gccttactat gcaaggaaga gttgaaacaa ctgctcttgg
      181 ctgagtttgg agacatcctc cagagaccaa atgacccaga gactgtggaa accatcttga
      241 acctcttaga tcaagaccga gatggacata ttgattttca tgagtacctc ttgttggtgt
      301 tccagttggt ccaagcctgc tatcataagc tagacaataa gtcacatgga ggcaggacct
      361 cacagcaaga aagggggcag gaaggagcac aagactgtaa gttcccagga aacacaggca
      421 gacaacacag acagaggcac gaggaagaaa ggcagaactc ccaccacagt cagcctgaga
      481 gacaagacgg agattcccac catggtcagc ctgagagaca agacagagat tcccaccatg
      541 gtcagtctga gaaacaagac agagattccc accacagtca gcctgagaga caagacagag
      601 attctcacca caatcagtct gagagacaag acaaggattt cagctttgat cagtcagaga
      661 gacaaagtca agactccagc tctggtaaaa aagtgagtca caaatctacc agtggccagg
      721 ctaaatggca gggacatatc tttgccttaa atcggtgtga aaaaccaatt caggattctc
      781 attatggtca gtctgaaaga catacacaac aatctgaaac acttggacaa gcctctcact
      841 ttaaccagac aaatcaacag aaatcaggct cttattgtgg acagtctgag aggctaggtc
      901 aggaattagg ctgtggtcag acagacagac aaggccagag ttcccactac ggtcagacgg
      961 acagacaaga ccagagttat cattatggtc agacagacag acaaggccag agttcccact
     1021 acagtcagac ggacagacaa ggccagagtt cccactacag tcagccagac agacaaggtc
     1081 agagttccca ctatggtcaa atggacagaa aaggccagtg ttatcattat gatcagacaa
     1141 acagacaagg ccagggttcc cactacagtc aaccaaacag acaaggtcag agttcccact
     1201 atggtcagcc agacacacaa gatcagagtt ctcactatgg tcagacagac agacaagacc
     1261 aaagttctca ctatggtcag acagagagac aaggccagag ttcccactac agtcagatgg
     1321 accgacaagg ccagggttct cactacggtc agacagacag acaaggccag agttcccact
     1381 atggtcagcc agacagacaa ggccagaatt cccactatgg tcagacagac agacaaggcc
     1441 agagttccca ctatggtcag acagacagac aaggccagag ttcccactac agtcagccag
     1501 acaaacaagg ccagagttcc cactatggta agatagacag acaagaccag agttatcatt
     1561 atggtcagcc agacggacaa ggccaaagtt cccactatgg tcagacagac agacaaggcc
     1621 agagtttcca ctatggtcag ccagacagac aaggccagag ttcccactac agtcagatgg
     1681 acagacaagg ccagagttcc cactatggtc agacagacag acaaggccag agttcccact
     1741 acggtcagac agacagacaa ggccagagct atcattatgg tcagacagac agacaaggcc
     1801 agagttccca ctatattcaa tcacagactg gggaaataca agggcaaaat aagtacttcc
     1861 aagggactga aggaacaaga aaagcctctt atgttgaaca atcaggaaga tcagggaggc
     1921 taagtcaaca gactccagga caggaagggt accaaaacca gggacaggga ttccagtcta
     1981 gggactcaca gcagaacggc caccaggtat gggagcctga agaggatagc caacatcacc
     2041 aacacaaact cttagcacaa atccaacaag aaagaccact ttgtcacaaa gggagagact
     2101 ggcaatcatg cagtagtgag cagggccaca gacaggccca gaccaggcag agtcatggtg
     2161 aggggctgag ccactgggca gaggaagagc agggccatca aacttgggat agacacagcc
     2221 atgagagtca ggaaggtcca tgtgggacac aggacaggcg aacccataaa gatgagcaga
     2281 accatcagag acgagacaga caaacccatg aacatgagca gagccatcag agacgagaca
     2341 ggcaaaccca tgaagacaag cagaaccgtc agagacgaga caggcaaacc catgaagacg
     2401 agcagaacca tcagagatga gacaggcaaa ctcatgaaga ggatcaaaac catcagcaac
     2461 aacataatag acaaaactat gaggagaaag agaggtatca aggatctcag aatcaaaaat
     2521 cccaagtgac ccacagaagc tgtcctaaca gagaaaaatt ccacatgaaa gaggatgacc
     2581 agagccaagg ctcacagaaa agacacactg aaccatcctt ctatccaacc cagagcagtg
     2641 ggaggcccca aaccagagaa cagcgtggtc accctgccaa gggagctact gttcccaacc
     2701 ccccctatga ctatgtgcaa gagcagaaat cctacccata ctaggctatg tgagcaccag
     2761 aggtaaagca acacaaagcc aaaaaagaaa cctatatgtc gagttcacct ttaattcgat
     2821 ttaagagatt gagaatgtat ttcttccctc tatcctctgc tgtatctccc tgcaaggatg
     2881 tttttgagta ctagcattca cgtaagggct tttggttctt tgagcagcaa ttctagggtt
     2941 ttctgattca gtgaaatcta ggtggtaaat tgggtgaaat aatcatatct taatgttgat
     3001 cagtttgggt atttaaatca tttcctgctt tgccctctgt gtagatgaga cctggttgaa
     3061 tcattgaaag gtagaacact tctccctaaa gttcagaaac agaaaagata ttctgaagat
     3121 ttacattaca tccaaggatt atactacatc tccactcctc aaggaaccct agatttggtg
     3181 agctttggct cctgtggata aaacatcagg aatttcaagc ctcatagtct agactagaat
     3241 gaaactcagt tcaaggctgc tacaagagcc gagaacatag agtgcatctc tgatgtttac
     3301 tacatctccc atgccaggct cttattccac accagaggga ctgtccatta gtgcctatca
     3361 ctagagctga atggacccat tccaattcaa tacctttcta gtttctgatt atataaaata
     3421 aagagaaagt atatgtcata tgtttgcaaa ttccagggga tcaagactat tgattcatag
     3481 ctcctaagac ctgaaaactc ttctcaagaa aatctatgtg cagattatga attgtattaa
     3541 aatatctaat aaataattga tgagcaata
//
