LOCUS       NM_004693               2170 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens keratin 75 (KRT75), mRNA.
ACCESSION   NM_004693
VERSION     NM_004693.3
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 2170)
  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 2170)
  AUTHORS   Handra-Luca,A. and Dragoescu,E.
  TITLE     Cytokeratin 5/6 and P63 immunophenotype of thyroid lymphoepithelial
            complexes
  JOURNAL   Ann Diagn Pathol 23, 58-61 (2016)
   PUBMED   27130144
  REMARK    GeneRIF: The expression of CK5/6 and of P63 suggests a squamous
            differentiation including in the basaloid thyroid lymphoepithelial
            complexes
REFERENCE   3  (bases 1 to 2170)
  AUTHORS   Duverger,O., Beniash,E. and Morasso,M.I.
  TITLE     Keratins as components of the enamel organic matrix
  JOURNAL   Matrix Biol 52-54, 260-265 (2016)
   PUBMED   26709044
  REMARK    GeneRIF: Studies show that mutation in epithelial hair keratin
            KRT75 leads to a skin condition called pseudofollicularis barbae.
            Carriers of this mutation have an altered enamel structure and
            mechanical properties leading to much higher prevalence of caries.
            [review]
            Review article
REFERENCE   4  (bases 1 to 2170)
  AUTHORS   Martin-Castillo,B., Lopez-Bonet,E., Buxo,M., Dorca,J.,
            Tuca-Rodriguez,F., Ruano,M.A., Colomer,R. and Menendez,J.A.
  TITLE     Cytokeratin 5/6 fingerprinting in HER2-positive tumors identifies a
            poor prognosis and trastuzumab-resistant basal-HER2 subtype of
            breast cancer
  JOURNAL   Oncotarget 6 (9), 7104-7122 (2015)
   PUBMED   25742793
  REMARK    GeneRIF: CK5/6 have roles in biologically aggressive tumors likely
            to display resistance to trastuzumab ab initio in women diagnosed
            with HER2+ cancer
REFERENCE   5  (bases 1 to 2170)
  AUTHORS   Duverger,O., Ohara,T., Shaffer,J.R., Donahue,D., Zerfas,P.,
            Dullnig,A., Crecelius,C., Beniash,E., Marazita,M.L. and
            Morasso,M.I.
  TITLE     Hair keratin mutations in tooth enamel increase dental decay risk
  JOURNAL   J Clin Invest 124 (12), 5219-5224 (2014)
   PUBMED   25347471
  REMARK    GeneRIF: Analysis of teeth from individuals carrying the
            KRT75(A161T) variant revealed an altered enamel structure and a
            marked reduction of enamel hardness, suggesting that a functional
            keratin network is required for the mechanical stability of tooth
            enamel.
REFERENCE   6  (bases 1 to 2170)
  AUTHORS   Roh,C., Tao,Q. and Lyle,S.
  TITLE     Dermal papilla-induced hair differentiation of adult epithelial
            stem cells from human skin
  JOURNAL   Physiol Genomics 19 (2), 207-217 (2004)
   PUBMED   15292489
REFERENCE   7  (bases 1 to 2170)
  AUTHORS   Winter,H., Schissel,D., Parry,D.A., Smith,T.A., Liovic,M., Birgitte
            Lane,E., Edler,L., Langbein,L., Jave-Suarez,L.F., Rogers,M.A.,
            Wilde,J., Peters,G. and Schweizer,J.
  TITLE     An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of
            the companion layer-specific keratin K6hf: evidence for a risk
            factor in the etiology of the common hair disorder
            pseudofolliculitis barbae
  JOURNAL   J Invest Dermatol 122 (3), 652-657 (2004)
   PUBMED   15086549
REFERENCE   8  (bases 1 to 2170)
  AUTHORS   Chapalain,V., Winter,H., Langbein,L., Le Roy,J.M., Labreze,C.,
            Nikolic,M., Schweizer,J. and Taieb,A.
  TITLE     Is the loose anagen hair syndrome a keratin disorder? A clinical
            and molecular study
  JOURNAL   Arch Dermatol 138 (4), 501-506 (2002)
   PUBMED   11939812
REFERENCE   9  (bases 1 to 2170)
  AUTHORS   Rogers,M.A., Winter,H., Langbein,L., Wolf,C. and Schweizer,J.
  TITLE     Characterization of a 300 kbp region of human DNA containing the
            type II hair keratin gene domain
  JOURNAL   J Invest Dermatol 114 (3), 464-472 (2000)
   PUBMED   10692104
REFERENCE   10 (bases 1 to 2170)
  AUTHORS   Winter,H., Langbein,L., Praetzel,S., Jacobs,M., Rogers,M.A.,
            Leigh,I.M., Tidman,N. and Schweizer,J.
  TITLE     A novel human type II cytokeratin, K6hf, specifically expressed in
            the companion layer of the hair follicle
  JOURNAL   J Invest Dermatol 111 (6), 955-962 (1998)
   PUBMED   9856802
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055736.20, AK225962.1 and
            Y17282.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004693.2.
            
            Summary: This gene is a member of the type II keratin family
            clustered on the long arm of chromosome 12. Type I and type II
            keratins heteropolymerize to form intermediate-sized filaments in
            the cytoplasm of epithelial cells. This gene is expressed in the
            companion layer, upper germinative matrix region of the hair
            follicle, and medulla of the hair shaft. The encoded protein plays
            an essential role in hair and nail formation. Variations in this
            gene have been associated with the hair disorders
            pseudofolliculitis barbae (PFB) and loose anagen hair syndrome
            (LAHS). [provided by RefSeq, Oct 2008].
            
            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 :: Y17282.1, AK298960.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2144335,
                                           SAMEA2145743 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252245.6/ ENSP00000252245.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AC055736.20        129419-129463
            46-1916             AK225962.1         1-1871
            1917-2170           Y17282.1           1868-2121
FEATURES             Location/Qualifiers
     source          1..2170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2170
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /note="keratin 75"
                     /db_xref="GeneID:9119"
                     /db_xref="HGNC:HGNC:24431"
                     /db_xref="MIM:609025"
     exon            1..565
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1723
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /note="cytokeratin type II; cytokeratin-75; type II
                     keratin-18; keratin-6 hair follicle; type II keratin-K6hf;
                     type-II keratin Kb18; keratin 75, type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 75"
                     /protein_id="NP_004684.2"
                     /db_xref="CCDS:CCDS8827.1"
                     /db_xref="GeneID:9119"
                     /db_xref="HGNC:HGNC:24431"
                     /db_xref="MIM:609025"
                     /translation="MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGS
                     GGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGG
                     GVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKF
                     ASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTER
                     GRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKS
                     LPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRS
                     RAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQ
                     TAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIAT
                     YRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSG
                     GHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH"
     exon            566..780
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            781..841
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            842..937
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1102
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1228
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1449
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1484
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..2170
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2150..2155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /note="hexamer: ATTAAA"
     polyA_site      2170
                     /gene="KRT75"
                     /gene_synonym="CK-75; hK6hf; K6HF; K75; KB18; PFB"
                     /note="major polyA site"
ORIGIN      
        1 acctgtcttc tccactgcct gtaccagccc acctcaggtg ccttctcgcc ggccttcctc
       61 acccaccatg tctcggcagt cctccatcac cttccagtct ggcagccgca ggggcttcag
      121 caccacctcg gccatcaccc cggcagctgg ccgctcccgc ttcagctctg tctctgtggc
      181 ccgctctgca gcagggagtg ggggcctggg aaggatcagc agtgctgggg ccagctttgg
      241 aagccgcagc ctctacaacc tggggggtgc caagcgggtc tccatcaatg ggtgtggcag
      301 cagctgccga agtggctttg gtggcagggc cagcaacagg tttggagtca acagtggatt
      361 tggctatggg ggtggagttg gaggaggctt cagtggcccc agcttccccg tgtgtccccc
      421 tggaggcatc caagaggtca ctgtcaacca gagtctcctg actcctcttc acctgcaaat
      481 cgaccccacc atccagcggg tgcgggccga ggagcgcgag cagatcaaga ccctcaacaa
      541 taagttcgcc tccttcatcg acaaggtgag gttcttggag cagcagaaca aggtcctgga
      601 gaccaagtgg gccctcctgc aggagcaggg ctccaggact gtgaggcaga acctagagcc
      661 cctctttgat tcctatacca gtgagctccg acggcagctg gaaagcatca ccaccgagag
      721 gggcaggctt gaagctgaac tgaggaacat gcaggatgtt gtggaagatt tcaaagtcag
      781 gtacgaagat gaaattaaca agcgcacagc tgctgagaat gaatttgtag ccctgaaaaa
      841 ggacgtagat gctgcctata tgaacaaggt ggagctggaa gccaaggtca aatctctgcc
      901 cgaggagatc aacttcatcc actcagtctt tgatgcagag ctgtcccagt tgcagaccca
      961 ggtcggtgac acatccgtgg tgctgtccat ggacaacaac cgcaacctgg acctggatag
     1021 tatcatcgcc gaggtcaaag cacaatacga ggacattgcc aaccgcagcc gggccgaggc
     1081 tgagtcctgg taccagacca agtacgagga gctgcaggtc accgcaggca gacatgggga
     1141 tgaccttcga aacaccaaac aagagatctc tgaaatgaac cgcatgatcc agaggctgag
     1201 agctgagatt gacagcgtca agaagcagtg ttccagcttg caaacggcca ttgctgatgc
     1261 agagcagcgg ggagaactgg ctctcaagga tgcacgggcc aagctggtgg accttgagga
     1321 ggccctgcag aaggccaagc aggacatggc tcggctcctg cgtgagtacc aggagctgat
     1381 gaacatcaag ctggccctgg acgtggagat cgccacctac cgcaagctgc tggaaggcga
     1441 ggagtgcagg ttgagtggag agggagtttc tccagttaac atttctgtgg tcacctctac
     1501 tctttccagt ggctatggaa gcggcagcag cattggaggt ggaaacctgg gcctcggtgg
     1561 gggcagcggc tactccttca ccaccagtgg tgggcatagc ctgggtgcag gcctgggagg
     1621 ttctggattc agtgccacca gcaaccgggg cttagggggc agtggttcta gcgtcaagtt
     1681 tgtctccacc acatcctcca gccagaagag ctacacgcac taagagagcc ccatggctcc
     1741 ctctaccctg ccttgaggcc tgtttgcagt cacacctgga caccagggtc ctcctccttc
     1801 ctctctcctt gtaaggtgca cctgtgctgc tgggagcctg gagtactggc tatacccatt
     1861 cccaggccta agccagcctc tccctcctga cagtgcccag actgccagca gcacccgtct
     1921 gttacacatg tgaaaccaaa gcctgctctc tcctaaggct ctcattcagc ctatcttgcg
     1981 aggcccgggc agctggaaag tcctcctcca gctccacctc cctccctccc tccagatgca
     2041 gaggctgggg agtctctcaa tgccaggttg tcacccacct gtctcatagt gtttataagt
     2101 ggcctgctgg gagtgagtgc tccctctgtt ccctccctgg aatgtgtcta ttaaatgcat
     2161 gtgtcacctg
//
