LOCUS       NM_002282               1875 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens keratin 83 (KRT83), mRNA.
ACCESSION   NM_002282 XM_001130312 XM_003846559 XM_006709960
VERSION     NM_002282.3
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 1875)
  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 1875)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   3  (bases 1 to 1875)
  AUTHORS   Shah,K., Ansar,M., Mughal,Z.U., Khan,F.S., Ahmad,W., Ferrara,T.M.
            and Spritz,R.A.
  TITLE     Recessive progressive symmetric erythrokeratoderma results from a
            homozygous loss-of-function mutation of KRT83 and is allelic with
            dominant monilethrix
  JOURNAL   J Med Genet 54 (3), 186-189 (2017)
   PUBMED   27965375
  REMARK    GeneRIF: Our findings indicate that at least some cases of
            autosomal recessive Progressive symmetric erythrokeratoderma
            (PSEK)and autosomal dominant monilethrix are allelic, respectively
            resulting from loss-of-function and missense mutations in the KRT83
            gene
REFERENCE   4  (bases 1 to 1875)
  AUTHORS   van Steensel,M., Vreeburg,M., Urbina,M.T., Lopez,P.,
            Morice-Picard,F. and van Geel,M.
  TITLE     Novel KRT83 and KRT86 mutations associated with monilethrix
  JOURNAL   Exp Dermatol 24 (3), 222-224 (2015)
   PUBMED   25557232
  REMARK    GeneRIF: Novel mutations causing monilethrix are reported in KRT81,
            KRT83, and KRT86.
REFERENCE   5  (bases 1 to 1875)
  AUTHORS   Pieragostino,D., Agnifili,L., Fasanella,V., D'Aguanno,S.,
            Mastropasqua,R., Di Ilio,C., Sacchetta,P., Urbani,A. and Del
            Boccio,P.
  TITLE     Shotgun proteomics reveals specific modulated protein patterns in
            tears of patients with primary open angle glaucoma naive to therapy
  JOURNAL   Mol Biosyst 9 (6), 1108-1116 (2013)
   PUBMED   23580065
REFERENCE   6  (bases 1 to 1875)
  AUTHORS   van Steensel,M.A., Steijlen,P.M., Bladergroen,R.S., Vermeer,M. and
            van Geel,M.
  TITLE     A missense mutation in the type II hair keratin hHb3 is associated
            with monilethrix
  JOURNAL   J Med Genet 42 (3), e19 (2005)
   PUBMED   15744029
  REMARK    GeneRIF: A heterozygous missense mutation in hHb3 causing the
            substitution of a glutamic acid by a lysine at position 407 in the
            helix termination motif defines this particular residue as a
            trichocyte keratin mutational hotspot associated with monilethrix.
REFERENCE   7  (bases 1 to 1875)
  AUTHORS   Langbein,L. and Schweizer,J.
  TITLE     Keratins of the human hair follicle
  JOURNAL   Int Rev Cytol 243, 1-78 (2005)
   PUBMED   15797458
  REMARK    GeneRIF: The KRTHB3 expression uniformly occurred in the midcortex
            region.
            Review article
REFERENCE   8  (bases 1 to 1875)
  AUTHORS   Langbein,L., Rogers,M.A., Winter,H., Praetzel,S. and Schweizer,J.
  TITLE     The catalog of human hair keratins. II. Expression of the six type
            II members in the hair follicle and the combined catalog of human
            type I and II keratins
  JOURNAL   J Biol Chem 276 (37), 35123-35132 (2001)
   PUBMED   11445569
REFERENCE   9  (bases 1 to 1875)
  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 1875)
  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
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 BC069546.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Feb 9, 2014 this sequence version replaced
            XM_006709960.1, XM_003846559.2, NM_002282.2.
            
            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
            KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided
            by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. 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 :: X99141.1, BC128063.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145313, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293670.3/ ENSP00000293670.3
            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
            1-13                AC121757.8         24529-24541
            14-1595             BC069546.1         1-1582
            1596-1875           AC121757.8         31347-31626
FEATURES             Location/Qualifiers
     source          1..1875
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..1875
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /note="keratin 83"
                     /db_xref="GeneID:3889"
                     /db_xref="HGNC:HGNC:6460"
                     /db_xref="MIM:602765"
     exon            1..447
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..1545
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /note="keratin, hair, basic, 3; hHb3; hard keratin, type
                     II, 3; K83; hair keratin K2.10; type-II keratin Kb23; type
                     II hair keratin Hb3; keratin 83, type II"
                     /codon_start=1
                     /product="keratin, type II cuticular Hb3"
                     /protein_id="NP_002273.3"
                     /db_xref="CCDS:CCDS8823.1"
                     /db_xref="GeneID:3889"
                     /db_xref="HGNC:HGNC:6460"
                     /db_xref="MIM:602765"
                     /translation="MTCGFNSIGCGFRPGNFSCVSACGPRPSRCCITAAPYRGISCYR
                     GLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDP
                     NAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLF
                     AGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAENEFVALKK
                     DVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRILQSHISDTSVVVKLDNSRDLNM
                     DCIVAEIKAQYDDIATRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMI
                     QRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIR
                     EYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVEAVNVCVSSSRGGVVCGDLCVSGS
                     RPVTGSVCSAPCNGNLVVSTGLCKPCGQLNTTCGGGSCGQGRH"
     exon            448..656
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            657..717
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            718..813
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            814..978
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1104
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1325
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1357
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1875
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1857..1862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /note="hexamer: AATAAA"
     polyA_site      1875
                     /gene="KRT83"
                     /gene_synonym="EKVP5; Hb-3; HB3; KRTHB3; MNLIX"
                     /note="major polyA site"
ORIGIN      
        1 acaggccctt ggttccatcc tctgccatct actccactgt tcagacacct cctaacctcc
       61 gtcatgacct gtggcttcaa ctccataggc tgtgggttcc gccctggaaa cttcagctgt
      121 gtctctgcct gcgggccccg gccaagccgc tgctgcatca ccgccgcccc ctaccgcggc
      181 atctcctgct accgcggcct caccgggggc tttggcagcc acagcgtgtg cgggggcttc
      241 cgcgccggct cctgcggacg cagcttcggc taccgctccg ggggcgtgtg cggacccagc
      301 cccccatgca tcaccaccgt gtcggtcaac gagagcctcc tcacgcccct caacctggag
      361 atagacccca acgcgcagtg cgtgaagcag gaggagaagg agcagatcaa gtccctcaac
      421 agcagattcg cggccttcat cgacaaggtg cgcttcctgg agcagcagaa caagctgctg
      481 gagacaaagc tgcagttcta ccaaaaccgc gagtgctgcc agagtaacct ggagcccctg
      541 tttgctggct acatcgagac tctgcggcgg gaggccgagt gcgtggaggc tgacagtggg
      601 aggctggcct cagagctcaa ccacgtgcag gaggtgctgg agggctacaa gaagaagtat
      661 gaagaagaag tagcacttcg agccacagca gagaacgagt ttgtggctct aaagaaggat
      721 gtggactgcg cctacctccg caagtcagac ctggaggcca acgtggaggc cctgatccag
      781 gagattgact tcctgaggcg gctgtacgag gaggagatcc gcattctcca atcccacatc
      841 tcagacacct ccgtggttgt caagctggac aacagccggg acctgaacat ggactgcatc
      901 gttgccgaga tcaaggcaca gtatgatgac attgccaccc gtagccgggc tgaggccgag
      961 tcctggtatc gcagcaagtg tgaggagatg aaggccacag tgatcaggca cggggagacc
     1021 ctgcgccgca ccaaggagga gatcaacgag ctgaaccgca tgatccagag gctgacagcc
     1081 gaggtggaga atgccaagtg ccagaactcc aagctggaag ctgcggtggc ccagtctgag
     1141 cagcagggtg aggcggccct cagtgatgcc cgctgcaagc tggccgagct ggagggcgcc
     1201 ctgcagaagg ccaagcaaga catggcctgc ctgatcaggg agtaccagga ggtgatgaac
     1261 tccaagctag gcctggatat cgagatcgcc acctacaggc gcctgctgga gggcgaggag
     1321 cagaggctgt gtgaaggtgt tgaagctgtg aatgtctgtg tcagcagctc ccggggtggg
     1381 gttgtgtgcg gggatctctg cgtgtcgggc tcccggccgg tgacgggcag cgtctgcagt
     1441 gccccctgca acgggaacct ggtggtgagc actggtttgt gcaagccctg tggccagctg
     1501 aacaccacct gtggaggggg ctcctgcggc caggggaggc attaagtggc ccaaaagaga
     1561 gccaggggag ccccttctgc ctgccagacg tgccactgcc ccaccaccag ctgaaaacag
     1621 cagcacatcg ctggcttttc cccttgtgtt ctgagaatac accatcggct cattcccacc
     1681 agcggctcct ccccaccttt catcccactg gaaaggggcc tgtggctggg gaatagaccc
     1741 attccttccc ctgtctcagc cttcagcccc tcccggggag aagggccttg cttccctgga
     1801 agaagcactg tgagactgtt ccccctgcct ctctggcctc ttgtctcccc ttttccaata
     1861 aacttgggga cctgc
//
