LOCUS       NM_005553               1189 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.
ACCESSION   NM_005553
VERSION     NM_005553.4
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 1189)
  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 1189)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1189)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 1189)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 1189)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 1189)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (bases 1 to 1189)
  AUTHORS   Yahagi,S., Shibuya,K., Obayashi,I., Masaki,H., Kurata,Y., Kudoh,J.
            and Shimizu,N.
  TITLE     Identification of two novel clusters of ultrahigh-sulfur
            keratin-associated protein genes on human chromosome 11
  JOURNAL   Biochem Biophys Res Commun 318 (3), 655-664 (2004)
   PUBMED   15144888
REFERENCE   8  (bases 1 to 1189)
  AUTHORS   Perez,C., Auriol,J., Gerst,C., Bernard,B.A. and Egly,J.M.
  TITLE     Genomic organization and promoter characterization of two human UHS
            keratin genes
  JOURNAL   Gene 227 (2), 137-148 (1999)
   PUBMED   10023043
REFERENCE   9  (bases 1 to 1189)
  AUTHORS   MacKinnon,P.J., Powell,B.C., Rogers,G.E., Baker,E.G.,
            MacKinnon,R.N., Hyland,V.J., Callen,D.F. and Sutherland,G.R.
  TITLE     An ultrahigh-sulphur keratin gene of the human hair cuticle is
            located at 11q13 and cross-hybridizes with sequences at 11p15
  JOURNAL   Mamm Genome 1 (1), 53-56 (1991)
   PUBMED   1724400
REFERENCE   10 (bases 1 to 1189)
  AUTHORS   MacKinnon,P.J., Powell,B.C. and Rogers,G.E.
  TITLE     Structure and expression of genes for a class of cysteine-rich
            proteins of the cuticle layers of differentiating wool and hair
            follicles
  JOURNAL   J Cell Biol 111 (6 Pt 1), 2587-2600 (1990)
   PUBMED   1703541
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000867.5.
            
            On Nov 21, 2019 this sequence version replaced NM_005553.3.
            
            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 is intronless :: X63755.1, AB126078.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: lack of evidence for use of
                                                upstream AUG
            MANE Ensembl match               :: ENST00000528743.4/
                                                ENSP00000431443.3
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1189              AP000867.5         76317-77505
FEATURES             Location/Qualifiers
     source          1..1189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1189
                     /gene="KRTAP5-9"
                     /gene_synonym="KRN1; KRTAP5-1; KRTAP5.9"
                     /note="keratin associated protein 5-9"
                     /db_xref="GeneID:3846"
                     /db_xref="HGNC:HGNC:23604"
                     /db_xref="MIM:148021"
     exon            1..1189
                     /gene="KRTAP5-9"
                     /gene_synonym="KRN1; KRTAP5-1; KRTAP5.9"
                     /inference="alignment:Splign:2.1.0"
     CDS             239..748
                     /gene="KRTAP5-9"
                     /gene_synonym="KRN1; KRTAP5-1; KRTAP5.9"
                     /note="keratin, cuticle, ultrahigh sulphur 1; UHS KerA;
                     UHS keratin A; keratin-associated protein 5.9; keratin,
                     cuticle, ultrahigh sulfur 1; keratin, ultra high-sulfur
                     matrix protein A; ultrahigh sulfur keratin-associated
                     protein 5.9"
                     /codon_start=1
                     /product="keratin-associated protein 5-9"
                     /protein_id="NP_005544.4"
                     /db_xref="CCDS:CCDS53677.1"
                     /db_xref="GeneID:3846"
                     /db_xref="HGNC:HGNC:23604"
                     /db_xref="MIM:148021"
                     /translation="MGCCGCSGGCGSSCGGCDSSCGSCGSGCRGCGPSCCAPVYCCKP
                     VCCCVPACSCSSCGKRGCGSCGGSKGGCGSCGCSQCSCCKPCCCSSGCGSSCCQCSCC
                     KPYCSQCSCCKPCCSSSGRGSSCCQSSCCKPCCSSSGCGSSCCQSSCCKPCCSQSRCC
                     VPVCYQCKI"
     regulatory      1170..1175
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRTAP5-9"
                     /gene_synonym="KRN1; KRTAP5-1; KRTAP5.9"
                     /note="hexamer: AATAAA"
     polyA_site      1189
                     /gene="KRTAP5-9"
                     /gene_synonym="KRN1; KRTAP5-1; KRTAP5.9"
                     /note="major polyA site"
ORIGIN      
        1 gaattccaca aggaaatcat ctcaggagga agggctcata cttggatcca gaaaatatca
       61 acatagccaa agaaaaacaa tcaagacata cctccaggag ctgtgtaaca gcaaccggaa
      121 agagaaacaa tggtgtgttc ctatgtggga tataaagagc cggggctcag ggggctccac
      181 acctgcacct ccttctcacc tgctcctcta cctgctccac cctcaatcca ccagaaccat
      241 gggctgctgt ggctgctccg gaggctgtgg ctccagctgt ggaggctgtg actccagctg
      301 tgggagctgt ggctctggct gcaggggctg tggccccagc tgctgtgcac ccgtctactg
      361 ctgcaagccc gtgtgctgct gtgttccagc ctgttcctgc tctagctgtg gcaagcgggg
      421 ctgtggctcc tgtgggggct ccaagggagg ctgtggttct tgtggctgct cccagtgcag
      481 ttgctgcaag ccctgctgtt gctcttcagg ctgtgggtca tcctgctgcc agtgcagctg
      541 ctgcaagccc tactgctccc agtgcagctg ctgtaagccc tgttgctcct cctcgggtcg
      601 tgggtcatcc tgctgccaat ccagctgctg caagccctgc tgctcatcct caggctgtgg
      661 gtcatcctgc tgccagtcca gctgctgcaa gccctgctgc tcccagtcca gatgctgtgt
      721 ccctgtgtgc taccagtgca agatctgagg ctctagtggg aaacctcagg tagctcctga
      781 agatctgtgc tttccaacaa gtgactaccc ttgaagcaca tccccttctg gatctgaaaa
      841 gagcccttgg ctcagggcgt ctttttccag cccctgagga aatggaatga accactccct
      901 gcccattccc tataagaata tcccaagacc caggcaattt tgcccctctt tcccacatgc
      961 ccccatatgt ctgagccaaa ctgcactggg ggctgccctc atgccaagca agagcctgga
     1021 attccccttc ttgataattc catgggagac agcaaaccct tctttccttt gcctgccagg
     1081 agcttcacga catttgcaga tggatgtcct gcaacccaaa tgatcacatg tatctatgga
     1141 aatccaaaat gcatctgggt gcagcactaa ataaattctc catccctca
//
