LOCUS       NM_002281               1929 bp    mRNA    linear   PRI 27-AUG-2024
DEFINITION  Homo sapiens keratin 81 (KRT81), transcript variant 1, mRNA.
ACCESSION   NM_002281
VERSION     NM_002281.4
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 1929)
  AUTHORS   Kang,D.S., Moriarty,A., Wang,Y.J., Thomas,A., Hao,J., Unger,B.A.,
            Klotz,R., Ahmmed,S., Amzaleg,Y., Martin,S., Vanapalli,S., Xu,K.,
            Smith,A., Shen,K. and Yu,M.
  TITLE     Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in
            Breast Cancer Alters Biophysical Characteristics to Promote
            Metastatic Propensity
  JOURNAL   Adv Sci (Weinh) 11 (5), e2300509 (2024)
   PUBMED   37949677
  REMARK    GeneRIF: Ectopic Expression of a Truncated Isoform of Hair Keratin
            81 in Breast Cancer Alters Biophysical Characteristics to Promote
            Metastatic Propensity.
REFERENCE   2  (bases 1 to 1929)
  AUTHORS   Zhang,K., Liang,Y., Zhang,W., Zeng,N., Tang,S. and Tian,R.
  TITLE     KRT81 Knockdown Inhibits Malignant Progression of Melanoma Through
            Regulating Interleukin-8
  JOURNAL   DNA Cell Biol 40 (10), 1290-1297 (2021)
   PUBMED   34591651
  REMARK    GeneRIF: KRT81 Knockdown Inhibits Malignant Progression of Melanoma
            Through Regulating Interleukin-8.
REFERENCE   3  (bases 1 to 1929)
  AUTHORS   Sha,Z., Lai,R., Zhang,X., Zhao,Y., Wu,J., Geng,C. and Guo,Z.
  TITLE     A Polymorphism at the microRNA Binding Site in the 3' Untranslated
            Region of KRT81 Is Associated with Breast Cancer
  JOURNAL   DNA Cell Biol 39 (10), 1886-1894 (2020)
   PUBMED   32678982
  REMARK    GeneRIF: A Polymorphism at the microRNA Binding Site in the 3'
            Untranslated Region of KRT81 Is Associated with Breast Cancer.
REFERENCE   4  (bases 1 to 1929)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1929)
  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   6  (bases 1 to 1929)
  AUTHORS   Winter,H., Labreze,C., Chapalain,V., Surleve-Bazeille,J.E.,
            Mercier,M., Rogers,M.A., Taieb,A. and Schweizer,J.
  TITLE     A variable monilethrix phenotype associated with a novel mutation,
            Glu402Lys, in the helix termination motif of the type II hair
            keratin hHb1
  JOURNAL   J Invest Dermatol 111 (1), 169-172 (1998)
   PUBMED   9665406
REFERENCE   7  (bases 1 to 1929)
  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   8  (bases 1 to 1929)
  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   9  (bases 1 to 1929)
  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
REFERENCE   10 (bases 1 to 1929)
  AUTHORS   Bowden,P.E., Hainey,S., Parker,G. and Hodgins,M.B.
  TITLE     Sequence and expression of human hair keratin genes
  JOURNAL   J Dermatol Sci 7 Suppl, S152-S163 (1994)
   PUBMED   7528047
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC121757.8 and X81420.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002281.3.
            
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. As a type II hair keratin, it is a basic
            protein which heterodimerizes with type I keratins to form hair and
            nails. The type II hair keratins are clustered in a region of
            chromosome 12q13 and are grouped into two distinct subfamilies
            based on structure similarity. One subfamily, consisting of KRTHB1,
            KRTHB3, and KRTHB6, is highly related. The other less-related
            subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins
            are expressed in the hair follicle; this hair keratin, as well as
            KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations
            in this gene and KRTHB6 have been observed in patients with a rare
            dominant hair disease, monilethrix. Some human genome assemblies
            (example T2T-CHM13) have a non-coding version of the gene due to
            the presence of a SNP that introduces a premature stop codon after
            codon 281. [provided by RefSeq, Jan 2024].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the bull length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: X81420.1, BC117465.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159931 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327741.9/ ENSP00000369349.4
            polymorphic pseudogene :: based on alignments, homology
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC121757.8         54393-54411
            20-307              AC121757.8         54412-54699
            308-811             X81420.1           1-504
            812-812             AC121757.8         57786-57786
            813-1121            X81420.1           506-814
            1122-1146           AC121757.8         58631-58655
            1147-1623           X81420.1           840-1316
            1624-1667           AC121757.8         59709-59752
            1668-1929           X81420.1           1360-1621
FEATURES             Location/Qualifiers
     source          1..1929
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..1929
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /note="keratin 81"
                     /db_xref="GeneID:3887"
                     /db_xref="HGNC:HGNC:6458"
                     /db_xref="MIM:602153"
     exon            1..438
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1587
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /note="keratin, hair, basic, 1; hard keratin, type II, 1;
                     hair keratin K2.9; type-II keratin Kb21; type II hair
                     keratin Hb1; metastatic lymph node 137 gene protein;
                     keratin 81, type II"
                     /codon_start=1
                     /product="keratin, type II cuticular Hb1"
                     /protein_id="NP_002272.2"
                     /db_xref="CCDS:CCDS31805.1"
                     /db_xref="GeneID:3887"
                     /db_xref="HGNC:HGNC:6458"
                     /db_xref="MIM:602153"
                     /translation="MTCGSGFGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGG
                     FGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCV
                     KQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIE
                     TLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCA
                     YLRKSDLEANVEALIQEIDFLRRLYEEEILILQSHISDTSVVVKLDNSRDLNMDCIIA
                     EIKAQYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTA
                     EVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEV
                     MNSKLGLDIEIATYRRLLEGEEQRLCEGIGAVNVCVSSSRGGVVCGDLCVSGSRPVTG
                     SVCSAPCNGNVAVSTGLCAPCGQLNTTCGGGSCGVGSCGISSLGVGSCGSSCRKC"
     exon            439..647
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            648..708
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            709..804
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            805..969
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1095
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1316
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1348
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1929
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1911..1916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /note="hexamer: AATAAA"
     polyA_site      1929
                     /gene="KRT81"
                     /gene_synonym="ghHkb1; Hb-1; HB1; hHAKB2-1; K81; KRTHB1;
                     MLN137"
                     /note="major polyA site"
ORIGIN      
        1 cattggagtt tccatcagga ctccaggtcc cctatcctgt cctctgcaac ccaaacgtcc
       61 aggaggatca tgacctgcgg atcaggattt ggtgggcgcg ccttcagctg catctcggcc
      121 tgcgggccgc ggcccggccg ctgctgcatc accgccgccc cctaccgtgg catctcctgc
      181 taccgcggcc tcaccggggg cttcggcagc cacagcgtgt gcggaggctt tcgggccggc
      241 tcctgcggac gcagcttcgg ctaccgctcc gggggcgtgt gcgggcccag tcccccatgc
      301 atcaccaccg tgtcggtcaa cgagagcctc ctcacgcccc tcaacctgga gatcgacccc
      361 aacgcgcagt gcgtgaagca ggaggagaag gagcagatca agtccctcaa cagcaggttc
      421 gcggccttca tcgacaaggt gcgcttcctg gagcagcaga acaaactgct ggagacaaag
      481 ctgcagttct accagaaccg cgagtgttgc cagagcaacc tggagcccct gtttgagggc
      541 tacatcgaga ctctgcggcg ggaggccgag tgcgtggagg ccgacagcgg gaggctggcc
      601 tcagagctta accacgtgca ggaggtgctg gagggctaca agaagaagta tgaggaggag
      661 gtttctctga gagcaacagc tgagaacgag tttgtggctc tgaagaagga tgtggactgc
      721 gcctacctcc gcaagtcaga cctggaggcc aacgtggagg ccctgatcca ggagatcgac
      781 ttcctgaggc ggctgtatga ggaggagatc ctcattctcc agtcgcacat ctcagacacc
      841 tccgtggttg tcaagctgga caacagccgg gacctgaaca tggactgcat cattgccgag
      901 attaaggcac agtatgacga cattgtcacc cgcagccggg ccgaggccga gtcctggtac
      961 cgcagcaagt gtgaggagat gaaggccacg gtgatcaggc acggggagac cctgcgccgc
     1021 accaaggagg agatcaatga gctgaaccgc atgatccaaa ggctgacggc cgaggtggag
     1081 aatgccaagt gccagaactc caagctggag gccgcggtgg cccagtctga gcagcagggt
     1141 gaggcggccc tcagtgatgc ccgctgcaag ctggccgagc tggagggcgc cctgcagaag
     1201 gccaagcagg acatggcctg cctgatcagg gagtaccagg aggtgatgaa ctccaagctg
     1261 ggcctggaca tcgagatcgc cacctacagg cgcctgctgg agggcgagga gcagaggcta
     1321 tgtgaaggca ttggggctgt gaatgtctgt gtcagcagct cccggggcgg ggtcgtgtgc
     1381 ggggacctct gcgtgtcagg ctcccggcca gtgactggca gtgtctgcag cgctccgtgc
     1441 aacgggaacg tggcggtgag caccggcctg tgtgcgccct gcggccaatt gaacaccacc
     1501 tgcggagggg gttcctgcgg cgtgggctcc tgtggtatca gctccctggg tgtggggtct
     1561 tgcggcagca gctgccggaa atgttaggca ccccaactca agtcccaggc cccaggcatc
     1621 tttcctgccc tgccttgctt ggcccatcca gtccaggcgc ctggagcaag tgctcagcta
     1681 cttctcctgc actttgaaag acccctccca ctcctggcct cacatttctc tgtgtgatcc
     1741 cccacttctg ggctctgcca ccccacagtg ggaaaggcca ccctagaaag aagtccgctg
     1801 gcacccatag gaaggggcct caggagcagg aagggccagg accagaacct tgcccacggc
     1861 aactgccttc ctgcctctcc ccttcctcct ctgctcttga tctgtgtttc aataaattaa
     1921 tgtagccaa
//
