LOCUS       NM_175053               2843 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens keratin 74 (KRT74), mRNA.
ACCESSION   NM_175053
VERSION     NM_175053.4
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 2843)
  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 2843)
  AUTHORS   Raykova,D., Klar,J., Azhar,A., Khan,T.N., Malik,N.A., Iqbal,M.,
            Tariq,M., Baig,S.M. and Dahl,N.
  TITLE     Autosomal recessive transmission of a rare KRT74 variant causes
            hair and nail ectodermal dysplasia: allelism with dominant woolly
            hair/hypotrichosis
  JOURNAL   PLoS One 9 (4), e93607 (2014)
   PUBMED   24714551
  REMARK    GeneRIF: These observations show for the first time that
            homozygosity for a KRT74 missense variant may be associated with
            autosomal recessive pure hair and nail ectodermal dysplasia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2843)
  AUTHORS   Wasif,N., Naqvi,S.K., Basit,S., Ali,N., Ansar,M. and Ahmad,W.
  TITLE     Novel mutations in the keratin-74 (KRT74) gene underlie autosomal
            dominant woolly hair/hypotrichosis in Pakistani families
  JOURNAL   Hum Genet 129 (4), 419-424 (2011)
   PUBMED   21188418
  REMARK    GeneRIF: Data provide evidence implicating that the KRT74 gene in
            the pathogenesis of autosomal dominant hair loss disorders.
REFERENCE   4  (bases 1 to 2843)
  AUTHORS   Shimomura,Y., Wajid,M., Petukhova,L., Kurban,M. and Christiano,A.M.
  TITLE     Autosomal-dominant woolly hair resulting from disruption of keratin
            74 (KRT74), a potential determinant of human hair texture
  JOURNAL   Am J Hum Genet 86 (4), 632-638 (2010)
   PUBMED   20346438
  REMARK    GeneRIF: Single Nucleotide Polymorphisms in KRT74 gene is
            associated with woolly hair.
REFERENCE   5  (bases 1 to 2843)
  AUTHORS   Luke,M.M., O'Meara,E.S., Rowland,C.M., Shiffman,D., Bare,L.A.,
            Arellano,A.R., Longstreth,W.T. Jr., Lumley,T., Rice,K., Tracy,R.P.,
            Devlin,J.J. and Psaty,B.M.
  TITLE     Gene variants associated with ischemic stroke: the cardiovascular
            health study
  JOURNAL   Stroke 40 (2), 363-368 (2009)
   PUBMED   19023099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2843)
  AUTHORS   Shiffman,D., O'Meara,E.S., Bare,L.A., Rowland,C.M., Louie,J.Z.,
            Arellano,A.R., Lumley,T., Rice,K., Iakoubova,O., Luke,M.M.,
            Young,B.A., Malloy,M.J., Kane,J.P., Ellis,S.G., Tracy,R.P.,
            Devlin,J.J. and Psaty,B.M.
  TITLE     Association of gene variants with incident myocardial infarction in
            the Cardiovascular Health Study
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (1), 173-179 (2008)
   PUBMED   17975119
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2843)
  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   8  (bases 1 to 2843)
  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
  REMARK    GeneRIF: report on the cloning of two novel human type II keratin
            cDNAs, K6irs3 and K6irs4, which were specifically expressed in the
            inner root sheath of the hair follicle
REFERENCE   9  (bases 1 to 2843)
  AUTHORS   Hesse,M., Magin,T.M. and Weber,K.
  TITLE     Genes for intermediate filament proteins and the draft sequence of
            the human genome: novel keratin genes and a surprisingly high
            number of pseudogenes related to keratin genes 8 and 18
  JOURNAL   J Cell Sci 114 (Pt 14), 2569-2575 (2001)
   PUBMED   11683385
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055715.13, AJ508777.1 and
            AI092341.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_175053.3.
            
            Summary: Keratins are intermediate filament proteins responsible
            for the structural integrity of epithelial cells and are subdivided
            into epithelial keratins and hair keratins. This protein belongs to
            a family of keratins that are specifically expressed in the inner
            root sheath of hair follicles.[provided by RefSeq, Jun 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ508777.1, SRR6380199.150681.9
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305620.3/ ENSP00000307240.2
            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
            1-18                AC055715.13        76547-76564
            19-758              AJ508777.1         1-740
            759-759             AC055715.13        78392-78392
            760-779             AJ508777.1         742-761
            780-780             AC055715.13        78413-78413
            781-878             AJ508777.1         763-860
            879-879             AC055715.13        79001-79001
            880-2340            AJ508777.1         862-2322
            2341-2800           AI092341.1         5-464               c
            2801-2806           AJ508777.1         2783-2788
            2807-2843           AC055715.13        84572-84608
FEATURES             Location/Qualifiers
     source          1..2843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2843
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /note="keratin 74"
                     /db_xref="GeneID:121391"
                     /db_xref="HGNC:HGNC:28929"
                     /db_xref="MIM:608248"
     exon            1..537
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1656
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /note="keratin 5c; keratin 6 irs4; K5C; K74; CK-74;
                     cytokeratin-74; type-II keratin Kb37; type II inner root
                     sheath-specific keratin-K6irs4; keratin 74, type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 74"
                     /protein_id="NP_778223.2"
                     /db_xref="CCDS:CCDS8832.1"
                     /db_xref="GeneID:121391"
                     /db_xref="HGNC:HGNC:28929"
                     /db_xref="MIM:608248"
                     /translation="MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAG
                     FGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPA
                     CLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRF
                     LEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRS
                     MRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLK
                     CLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQ
                     TKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQR
                     GDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEE
                     CRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGG
                     DLKDTQGKSTPASIPARKATR"
     exon            538..752
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            753..813
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            814..909
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1074
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1200
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1421
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1422..1456
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..2843
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2783..2788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /note="hexamer: ATTAAA"
     polyA_site      2808
                     /gene="KRT74"
                     /gene_synonym="ADWH; ECTD7; HTSS2; HYPT3; K6IRS4; KRT5C;
                     KRT6IRS4"
                     /note="major polyA site"
ORIGIN      
        1 atcagtgtgt tctctacccc ttggagactg cttttctcca gctctgtcaa ctcaaccttt
       61 cccaccatga gtcggcaact gaacatcaag tccagtggtg acaagggcaa cttcagtgtg
      121 cattcggcag tggtgccaag gaaggctgtg ggtagcctgg cttcttactg tgcagctggc
      181 agaggggctg gcgctggctt tggcagtcgg agcctctata gccttggagg gaatcggcgt
      241 atttctttca atgtggctgg tggcggcgtt cgggctggag gttacggctt caggcctggc
      301 tctgggtatg gagggggccg ggccagtggc tttgctggca gtatgtttgg cagtgtggcc
      361 ctggggcctg catgtttgtc tgtgtgccca cctgggggca tccaccaggt cactgtcaac
      421 aagagcctct tggcccccct caacgtggag ctggaccctg agatccagaa ggtgcgcgcc
      481 caggagcggg aacagatcaa ggtgctgaac gacaagttcg cctccttcat tgacaaggta
      541 cgcttcctag agcagcagaa ccaggttcta gaaaccaagt gggagctgct gcagcagctg
      601 gacctgaaca actgcaagaa gaacctggag cccatccttg agggctacat cagcaacctg
      661 cggaagcagc tggagacact gtctggggac agggtgaggc tggactcgga gctgagaagc
      721 atgagggatc tggtggagga ctataagaag agatatgaag tggagattaa ccggcgcacg
      781 acagcagaga atgagtttgt ggtgcttaag aaggatgcag atgcagccta cgcagtcaag
      841 gtggagcttc aggccaaagt ggactcactg gacaaagaaa tcaagttcct caagtgtctg
      901 tatgatgcag agatcgctca gatccagact cacgccagtg agacctctgt catcctgtcc
      961 atggacaaca accgggacct ggaccttgac agcatcatcg ctgaggtccg catgcattat
     1021 gaggagatcg ccctgaagag caaggccgag gccgaggccc tgtaccagac caagatccag
     1081 gagctgcagc tggcagccag tcggcatggt gacgacctga aacacaccag gagcgagatg
     1141 gtggagctga accggctcat ccagaggatc cggtgtgaga tcgggaatgt gaagaagcag
     1201 cgtgccagcc tggagacggc catcgctgac gctgagcagc ggggagacaa tgccctgaag
     1261 gatgcccagg ccaagctgga tgagctggag ggcgccctgc accaggccaa ggaggagctg
     1321 gcgcggatgc tgcgcgagta ccaggagctc atgagcctga aactggccct ggacatggag
     1381 attgccacct accgcaagct gctggagggc gaggagtgca ggatgtctgg tgagaatcca
     1441 tcctctgtga gcatctctgt catcagcagt agcagctaca gctaccacca ccccagctct
     1501 gcgggtgttg accttggggc cagcgctgtg gcaggcagct ctggcagcac ccagagcggg
     1561 cagaccaaga ccacagaggc gcgaggggga gacctcaagg acacccaggg caagagcacc
     1621 ccagccagca tcccagcaag gaaagccacc cgctagaccc atggcctcac ccacctcagc
     1681 acttggaaga agaggtgact ttgccacccc caaaggtgtc tgccacaccc aagttcccag
     1741 gccctgagtt ttaaaactgt ctgtagtaca ctcaactgtc tgcatcgtgg tttagctttt
     1801 actttcaagc tctgattgac acagtcacct tccctgtttc cttaggtccc atgtggacta
     1861 acgacttctc attttcctcg ctgcctttgg ctggcaggag gctttggagg cacaagccat
     1921 tataaccttc ttggccctaa ggaagctgtg atcatcccta gaaagaggga aggagcagga
     1981 gacgacaggg gaggggctgg tttgttctgt gcttaggcca agttagctac tgtctgagag
     2041 gttttacatc ccctgccagc atggtggggt gacacgagac ctgtaagcag gtggtgagaa
     2101 gttagacagc ctttacttgc tccatcagaa acaactttgc aggatgacgc caatatttag
     2161 gacaccacgt gtacatctgt agaccaccag ctgcacccat ctccacaaag ccaagtgaag
     2221 gtgtattggg gattctctgc cagcctgtgt cacccaccca cctccttcat tatcagcaat
     2281 agctaccatc atttgtcaag cacctactag atgccagaca ccctacacat attgcctcct
     2341 gttctcatcc attcctgcaa agaagatgca atgagcatcc ttggaacaga ctgggagcct
     2401 gatcccaaga ggctgctgaa ctggccccag tcacccacct atgtgccaga gtcaggcctg
     2461 gccgacacaa ggatctatgc tttttctgtg gtgtgtcact gcctttttaa caaaagggct
     2521 gtcaaagtca ccattctttt tgatgagggc agcgtaatta cattgccttt tgtcaggact
     2581 gtgggtatgt gatttgtctt ccacagtctc tctggggctg tgtcctacat agcttctgac
     2641 tctcaatttt tggtgccatg agctgagctc agtgagtgga gctggctttt ctgtcgctga
     2701 gtgctactgc ctagtccaga tgtcgtggct cagggtgtaa atattcctaa gaatggcagc
     2761 atctatttcc tcttttgttt gaattaaaga ctctgaattt ctgctgtata ttcattaagt
     2821 tgtccttgag tgttgtcaga ggt
//
