LOCUS       NM_033448               2263 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens keratin 71 (KRT71), mRNA.
ACCESSION   NM_033448
VERSION     NM_033448.3
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 2263)
  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 2263)
  AUTHORS   Fujimoto,A., Farooq,M., Fujikawa,H., Inoue,A., Ohyama,M., Ehama,R.,
            Nakanishi,J., Hagihara,M., Iwabuchi,T., Aoki,J., Ito,M. and
            Shimomura,Y.
  TITLE     A missense mutation within the helix initiation motif of the
            keratin K71 gene underlies autosomal dominant woolly
            hair/hypotrichosis
  JOURNAL   J Invest Dermatol 132 (10), 2342-2349 (2012)
   PUBMED   22592156
  REMARK    GeneRIF: Demonstration of the heterozygous mutation c.422T>G
            (p.Phe141Cys) within the helix initiation motif of the inner root
            sheath-specific keratin K71 (KRT71) gene in affected family members
            with autosomal dominant woolly hair/hypotrichosis.
REFERENCE   3  (bases 1 to 2263)
  AUTHORS   Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B.,
            Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and
            Wright,M.W.
  TITLE     New consensus nomenclature for mammalian keratins
  JOURNAL   J Cell Biol 174 (2), 169-174 (2006)
   PUBMED   16831889
REFERENCE   4  (bases 1 to 2263)
  AUTHORS   Langbein,L., Rogers,M.A., Praetzel,S., Winter,H. and Schweizer,J.
  TITLE     K6irs1, K6irs2, K6irs3, and K6irs4 represent the
            inner-root-sheath-specific type II epithelial keratins of the human
            hair follicle
  JOURNAL   J Invest Dermatol 120 (4), 512-522 (2003)
   PUBMED   12648212
REFERENCE   5  (bases 1 to 2263)
  AUTHORS   Langbein,L., Rogers,M.A., Praetzel,S., Aoki,N., Winter,H. and
            Schweizer,J.
  TITLE     A novel epithelial keratin, hK6irs1, is expressed differentially in
            all layers of the inner root sheath, including specialized huxley
            cells (Flugelzellen) of the human hair follicle
  JOURNAL   J Invest Dermatol 118 (5), 789-799 (2002)
   PUBMED   11982755
  REMARK    GeneRIF: A novel epithelial keratin, hK6irs1, is expressed
            differentially in all layers of the inner root sheath, including
            specialized huxley cells (Flugelzellen) of the human hair
            follicle.(HK6IRS1)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK122795.1 and AJ308599.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_033448.2.
            
            Summary: Keratins are intermediate filament proteins responsible
            for the structural integrity of epithelial cells and are subdivided
            into epithelial keratins and hair keratins. This gene encodes a
            protein that is expressed in the inner root sheath of hair
            follicles. The type II keratins are clustered in a region of
            chromosome 12q13.[provided by RefSeq, Jun 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ308599.1, AK122795.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2144333 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267119.6/ ENSP00000267119.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-583               AK122795.1         3-585
            584-2263            AJ308599.1         558-2237
FEATURES             Location/Qualifiers
     source          1..2263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2263
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /note="keratin 71"
                     /db_xref="GeneID:112802"
                     /db_xref="HGNC:HGNC:28927"
                     /db_xref="MIM:608245"
     exon            1..509
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1640
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /note="keratin 6 irs; K71; CK-71; hK6irs; hK6irs1;
                     cytokeratin-71; type-II keratin Kb34; type II inner root
                     sheath-specific keratin-K6irs1; keratin 71, type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 71"
                     /protein_id="NP_258259.1"
                     /db_xref="CCDS:CCDS8831.1"
                     /db_xref="GeneID:112802"
                     /db_xref="HGNC:HGNC:28927"
                     /db_xref="MIM:608245"
                     /translation="MSRQFTCKSGAAAKGGFSGCSAVLSGGSSSSFRAGSKGLSGGFG
                     SRSLYSLGGVRSLNVASGSGKSGGYGFGRGRASGFAGSMFGSVALGPVCPTVCPPGGI
                     HQVTVNESLLAPLNVELDPEIQKVRAQEREQIKALNNKFASFIDKVRFLEQQNQVLET
                     KWELLQQLDLNNCKNNLEPILEGYISNLRKQLETLSGDRVRLDSELRNVRDVVEDYKK
                     RYEEEINKRTAAENEFVLLKKDVDAAYANKVELQAKVESMDQEIKFFRCLFEAEITQI
                     QSHISDMSVILSMDNNRNLDLDSIIDEVRTQYEEIALKSKAEAEALYQTKFQELQLAA
                     GRHGDDLKNTKNEISELTRLIQRIRSEIENVKKQASNLETAIADAEQRGDNALKDARA
                     KLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLESEECRMSGEFPSP
                     VSISIISSTSGGSVYGFRPSMVSGGYVANSSNCISGVCSVRGGEGRSRGSANDYKDTL
                     GKGSSLSAPSKKTSR"
     exon            510..724
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            725..785
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..881
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1046
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1172
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1393
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1428
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..2263
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2245..2250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /note="hexamer: AATAAA"
     polyA_site      2263
                     /gene="KRT71"
                     /gene_synonym="HYPT13; K6IRS1; KRT6IRS; KRT6IRS1"
                     /note="major polyA site"
ORIGIN      
        1 aaccagcaga accttttggg attttgcctt cctccctcct gcatctgagc tttgtctcca
       61 ccagcaacat gagccgccaa ttcacctgca agtcgggagc tgccgccaag gggggcttca
      121 gtggctgctc agctgtgctc tcagggggca gctcatcctc cttccgggca gggagcaaag
      181 ggctcagtgg gggctttggc agccggagcc tctacagcct ggggggtgtc cggagcctca
      241 atgtggccag tggcagcggg aagagtggag gctatggatt tggccggggc cgggccagtg
      301 gctttgctgg aagcatgttt ggcagtgtgg ccctggggcc tgtgtgccca actgtatgcc
      361 cacctggagg catccaccag gttaccgtca atgagagcct cctggccccc ctcaacgtgg
      421 agctggaccc cgagatccag aaagtgcgtg cccaggagcg agagcagatc aaggctctga
      481 acaacaagtt cgcctccttc atcgacaagg tgcggttcct ggagcagcag aaccaggtac
      541 tggagaccaa gtgggagctg ctgcagcagc tggacctgaa caactgcaag aacaacctgg
      601 agcccatcct cgagggctac atcagcaacc tgcggaagca gctggagacg ctgtctgggg
      661 acagggtgag gctggactcg gagctgagga atgtgcggga cgtagtggag gactacaaga
      721 agaggtatga ggaggaaatc aacaagcgga cagcagcaga gaacgagttt gtgctgctca
      781 agaaggatgt ggatgctgct tacgccaata aggtggaact gcaggccaag gtggaatcca
      841 tggaccagga gatcaagttc ttcaggtgtc tctttgaagc cgagatcact cagatccagt
      901 cccacatcag tgacatgtct gtcatcctgt ccatggacaa caaccggaac ctagacctgg
      961 acagcatcat tgacgaagtc cgcacccagt atgaggagat tgccttgaag agtaaggccg
     1021 aggctgaggc cctgtaccag accaagttcc aagagcttca gctggcagct ggcaggcatg
     1081 gggacgacct caaaaacacc aagaatgaaa tctcggagct cactcggctc atccagagaa
     1141 tccgctcaga gatcgagaac gtgaagaagc aggcttccaa cctggagaca gccatcgctg
     1201 atgctgagca gcggggagac aacgccctga aggatgcccg ggccaagctg gacgagctgg
     1261 agggcgccct gcaccaggcc aaggaggagc tggcgcggat gctgcgcgag taccaggagc
     1321 tcatgagcct gaagctggcc ctggacatgg agatcgccac ctatcgcaag ctactggaga
     1381 gcgaggagtg caggatgtca ggagaatttc cctcccctgt cagcatctcc atcatcagca
     1441 gcaccagtgg cggcagtgtc tatggcttcc ggcccagcat ggtcagcggt ggctatgtgg
     1501 ccaacagcag caactgcatc tctggagtgt gcagcgtgag aggcggggag ggcaggagcc
     1561 ggggcagtgc caacgattac aaagacaccc tagggaaggg ttccagcctg agtgcaccct
     1621 ccaagaaaac cagtcggtag agaagactgc cccgggcccc gcctcattcc atgacccggc
     1681 tctggatccc acactgtact tcccacagcc cactctcagc tccatctcca ccctgctggt
     1741 cctgctccca tacacctggc actggccttg gccacccact tctcccagcc tgtgtcttcc
     1801 tgatcctggg aaggcctgga tgaccaagct tggtgaaatt cctccctgta cacaccctat
     1861 taactccttg gctgtggtcc cccagctaca ccaccagccc aggtcctggc tgccagcttt
     1921 cctcctctgc ccggcctcta gcgcagtcgc taactactct gctgggctcc ctgggtctct
     1981 gcccaaggcc ccgcacacac tgggacctag catagttcct gcctatgcca ggagctggct
     2041 ctgtgtttaa gaaaaggagg actgaaggac aaacaaccaa gagtggccca gtccccaccc
     2101 ccacatctag ctcagtctca aatctgagtg ggaccaagtg caattcaggg cctttttctc
     2161 cactcacctg cacccagaag cagagaaaag caggcactgt tcacttttcc tttattctta
     2221 atggccttcc tctgttgcaa cctcaataaa cagcacaatc tca
//
