LOCUS       NM_001320198            2247 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens keratin 86 (KRT86), mRNA.
ACCESSION   NM_001320198 XM_011538337
VERSION     NM_001320198.2
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 2247)
  AUTHORS   Dai,R., Wang,T. and Wu,X.
  TITLE     Autosomal dominant monilethrix with incomplete penetrance due to a
            novel KRT86 mutation in a Chinese family
  JOURNAL   An Bras Dermatol 99 (4), 606-609 (2024)
   PUBMED   38594178
  REMARK    GeneRIF: Autosomal dominant monilethrix with incomplete penetrance
            due to a novel KRT86 mutation in a Chinese family.
REFERENCE   2  (bases 1 to 2247)
  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   3  (bases 1 to 2247)
  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   4  (bases 1 to 2247)
  AUTHORS   Deng,Y., Xia,D., Wang,L., Li,M. and Li,W.
  TITLE     Identification of a novel missense KRT86 mutation in a Chinese
            family with monilethrix
  JOURNAL   J Dermatol 45 (11), e298-e300 (2018)
   PUBMED   29701253
  REMARK    GeneRIF: Study reported here a three-generation Chinese family with
            autosomal dominant monilethrix carrying a novel missense mutation
            c.1223G>C in KRT86.
REFERENCE   5  (bases 1 to 2247)
  AUTHORS   Redler,S., Pasternack,S.M., Wolf,S., Stienen,D., Wenzel,J.,
            Nothen,M.M. and Betz,R.C.
  TITLE     A novel KRT86 mutation in a Turkish family with monilethrix, and
            identification of maternal mosaicism
  JOURNAL   Clin Exp Dermatol 40 (7), 781-785 (2015)
   PUBMED   25809918
  REMARK    GeneRIF: Analysis of KRT86 revealed a novel mutation,
            c.1231G>T;p.Glu411*, in exon 7 in the three affected children and
            their mother with monilethrix.
REFERENCE   6  (bases 1 to 2247)
  AUTHORS   Bowden,P.E., Hainey,S.D., Parker,G., Jones,D.O., Zimonjic,D.,
            Popescu,N. and Hodgins,M.B.
  TITLE     Characterization and chromosomal localization of human
            hair-specific keratin genes and comparative expression during the
            hair growth cycle
  JOURNAL   J Invest Dermatol 110 (2), 158-164 (1998)
   PUBMED   9457912
REFERENCE   7  (bases 1 to 2247)
  AUTHORS   Winter,H., Rogers,M.A., Gebhardt,M., Wollina,U., Boxall,L.,
            Chitayat,D., Babul-Hirji,R., Stevens,H.P., Zlotogorski,A. and
            Schweizer,J.
  TITLE     A new mutation in the type II hair cortex keratin hHb1 involved in
            the inherited hair disorder monilethrix
  JOURNAL   Hum Genet 101 (2), 165-169 (1997)
   PUBMED   9402962
REFERENCE   8  (bases 1 to 2247)
  AUTHORS   Winter,H., Rogers,M.A., Langbein,L., Stevens,H.P., Leigh,I.M.,
            Labreze,C., Roul,S., Taieb,A., Krieg,T. and Schweizer,J.
  TITLE     Mutations in the hair cortex keratin hHb6 cause the inherited hair
            disease monilethrix
  JOURNAL   Nat Genet 16 (4), 372-374 (1997)
   PUBMED   9241275
REFERENCE   9  (bases 1 to 2247)
  AUTHORS   Rogers,M.A., Langbein,L., Praetzel,S., Moll,I., Krieg,T., Winter,H.
            and Schweizer,J.
  TITLE     Sequences and differential expression of three novel human type-II
            hair keratins
  JOURNAL   Differentiation 61 (3), 187-194 (1997)
   PUBMED   9084137
REFERENCE   10 (bases 1 to 2247)
  AUTHORS   Rogers,M.A., Nischt,R., Korge,B., Krieg,T., Fink,T.M., Lichter,P.,
            Winter,H. and Schweizer,J.
  TITLE     Sequence data and chromosomal localization of human type I and type
            II hair keratin genes
  JOURNAL   Exp Cell Res 220 (2), 357-362 (1995)
   PUBMED   7556444
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC399862.1, AK292237.1,
            BC069585.1, BG216771.1 and AI368926.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001320198.1.
            
            Summary: This gene encodes a type II keratin protein, which
            heterodimerizes with type I keratins to form hair and nails. This
            gene is present in a cluster of related genes and pseudogenes on
            chromosome 12. Mutations in this gene have been observed in
            patients with the hair disease monilethrix. [provided by RefSeq,
            Feb 2016].
            
            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 :: AK292237.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423955.7/ ENSP00000444533.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                DC399862.1         1-30
            31-843              AK292237.1         2-814
            844-1717            BC069585.1         685-1558
            1718-1955           BG216771.1         266-503
            1956-2247           AI368926.1         10-301              c
FEATURES             Location/Qualifiers
     source          1..2247
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2247
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /note="keratin 86"
                     /db_xref="GeneID:3892"
                     /db_xref="HGNC:HGNC:6463"
                     /db_xref="MIM:601928"
     exon            1..78
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            79..204
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            205..577
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1669
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /note="keratin, hair, basic, 6 (monilethrix); hard
                     keratin, type II, 6; keratin protein HB6; hair keratin
                     K2.11; type-II keratin Kb26; type II hair keratin Hb6;
                     keratin 86, type II"
                     /codon_start=1
                     /product="keratin, type II cuticular Hb6"
                     /protein_id="NP_001307127.1"
                     /db_xref="CCDS:CCDS41785.1"
                     /db_xref="GeneID:3892"
                     /db_xref="HGNC:HGNC:6463"
                     /db_xref="MIM:601928"
                     /translation="MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGG
                     FGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCV
                     KQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIE
                     TLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCA
                     YLRKSDLEANVEALIQEIDFLRRLYEEEIRVLQSHISDTSVVVKLDNSRDLNMDCIIA
                     EIKAQYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTA
                     EVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEV
                     MNSKLGLDIEIATYRRLLEGEEQRLCEGVGSVNVCVSSSRGGVVCGDLCASTTAPVVS
                     TRVSSVPSNSNVVVGTTNACAPSARVGVCGGSCKRC"
     exon            578..786
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            787..847
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            848..943
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1108
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1234
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1455
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1487
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..2247
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2224..2229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /note="hexamer: AATAAA"
     polyA_site      2247
                     /gene="KRT86"
                     /gene_synonym="Hb1; HB6; K86; KRTHB1; KRTHB6; MNX"
                     /note="major polyA site"
ORIGIN      
        1 attctggtag ctcttgggct gaagctgggc tttggtgctc aagagaggct tggaggagac
       61 cacagttctt tctccatgtg tgaggaatta aaggcaactg tgcagaaaca cacgcagagc
      121 ctgaagccca gcaaggagga tctgaacagg cttaatcagg ccatccagtg gctgacggtg
      181 gaggtgggca gtgctgagag tcagcaccat gacttgtgga tcttactgtg gtggccgcgc
      241 cttcagctgc atctcggcct gcgggccccg gcccggccgc tgctgcatca ccgccgcccc
      301 ctaccgtggc atctcctgct accgcggcct caccgggggc ttcggcagcc acagcgtgtg
      361 cggaggcttt cgggccggct cctgcggacg cagcttcggc taccgctccg ggggcgtgtg
      421 cgggcccagt cccccatgca tcaccaccgt gtcggtcaac gagagcctcc tcacgcccct
      481 caacctggag atcgacccca acgcgcagtg cgtgaagcag gaggagaagg agcagatcaa
      541 gtccctcaac agcaggttcg cggccttcat cgacaaggtg cgcttcctgg agcagcagaa
      601 caaactgctg gagacaaagc tgcagttcta ccagaaccgc gagtgttgcc agagcaacct
      661 ggagcccctg tttgagggct acatcgagac tctgcggcgg gaggccgagt gcgtggaggc
      721 cgacagcggg aggctggcct cagagcttaa ccacgtgcag gaggtgctgg agggctacaa
      781 gaagaagtat gaggaggagg tttctctgag agcaacagct gagaacgagt ttgtggctct
      841 gaagaaggat gtggactgcg cctacctccg caaatcagac ctggaggcca atgtggaggc
      901 cctgatccag gagatcgact tcctgaggcg gctgtatgag gaggagatcc gcgttctcca
      961 gtcccacatc tcagacacct ccgtggttgt caagctggac aacagccggg acctgaacat
     1021 ggactgcatc attgccgaga tcaaggcaca gtacgatgac attgtcaccc gtagccgggc
     1081 tgaggccgag tcctggtacc gcagcaagtg tgaggagatg aaggccacgg tgatcaggca
     1141 cggggagacc ctgcgccgca ccaaggagga gatcaacgag ctgaaccgca tgatccagag
     1201 gctgacggct gaggtggaga atgccaagtg ccagaattcc aagctggagg ctgcggtggc
     1261 tcagtctgag cagcagggtg aggcggccct cagcgatgcc cgctgcaagt tggccgagct
     1321 ggagggtgcc ctgcagaagg ccaagcagga catggcctgc ctgatcaggg agtaccagga
     1381 ggtgatgaac tccaagctgg gcctggacat cgagatcgcc acctacaggc gcctgctgga
     1441 gggcgaggag cagaggctgt gcgagggcgt cggctcggtg aatgtctgcg tcagcagctc
     1501 ccgcggtggc gttgtctgtg gcgatctctg cgcctccact actgcccctg ttgtctccac
     1561 cagagtcagt agcgtcccca gcaacagcaa cgtggtggtg ggcactacta acgcctgcgc
     1621 cccctccgcc cgggttggcg tctgcggcgg cagctgtaag aggtgctagg aggctgccgc
     1681 ctccgccagc gcctgtcgcc gtcactctcc acccagccag tacctcgcgc caccagaacg
     1741 cgccgcccgc gccggcctcc caatagccgc cgcccgctgc ctgcactcta agcgccctcc
     1801 ccaccgctcc gctccgggag ccatccccgg tcgcaggagt ccggggaggg ccgggaggcg
     1861 ccatggtctc tctctgtagc ctttcctggt agtcaatttg ttgtcccgag gattcatctt
     1921 tttcttccgc ctgccttctg ttttttttgc tgtatacatt ggtcttgcct gagctcttcc
     1981 ccaaagcttg gaggaacggg ggaggcccgg gaatgtccct gtctgcacga cctgggactc
     2041 tgcccatgtg cttttgcctg tggaatggag acgcggaccc tggatagtgg ttctatgact
     2101 ctgcgaggga caggcccacg cgtgtgggga gaacatctcc cttccggggc tgccctcaag
     2161 agcttctgaa aaactaatga ctctgctgcc ttctcctttg tctttgtttc actctgtgtt
     2221 tccaataaac tcattgtagc gaatcaa
//
