LOCUS       NM_002283               2447 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens keratin 85 (KRT85), transcript variant 1, mRNA.
ACCESSION   NM_002283
VERSION     NM_002283.4
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 2447)
  AUTHORS   Yamamoto,M., Sakamoto,Y., Honda,Y., Koike,K., Nakamura,H.,
            Matsumoto,T. and Ando,S.
  TITLE     De novo filament formation by human hair keratins K85 and K35
            follows a filament development pattern distinct from cytokeratin
            filament networks
  JOURNAL   FEBS Open Bio 11 (5), 1299-1312 (2021)
   PUBMED   33605551
  REMARK    GeneRIF: De novo filament formation by human hair keratins K85 and
            K35 follows a filament development pattern distinct from
            cytokeratin filament networks.
REFERENCE   2  (bases 1 to 2447)
  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 2447)
  AUTHORS   Amico,S., Ged,C., Taieb,A. and Morice-Picard,F.
  TITLE     Compound heterozygosity for novel KRT85 variants associated with
            pure hair and nail ectodermal dysplasia
  JOURNAL   J Eur Acad Dermatol Venereol 33 (12), e458-e459 (2019)
   PUBMED   31273852
  REMARK    GeneRIF: described for the first time KRT85 compound heterozygosity
            in caucasian patients, leading to pure hair and nail ectodermal
            dysplasia. Next generation sequencing molecular diagnosis allowed
            to confirm rapidly the diagnosis and to guide genetic counselling
REFERENCE   4  (bases 1 to 2447)
  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   5  (bases 1 to 2447)
  AUTHORS   Rasool,M., Nawaz,S., Azhar,A., Wajid,M., Westermark,P., Baig,S.M.,
            Klar,J. and Dahl,N.
  TITLE     Autosomal recessive pure hair and nail ectodermal dysplasia linked
            to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
  JOURNAL   Eur J Dermatol 20 (4), 443-446 (2010)
   PUBMED   20409997
  REMARK    GeneRIF: Our study confirms linkage of a variant clinical form of
            hair-nail ectodermal dysplasia to chromosome 12 without any
            mutation in the coding sequences of the KRTHB5 gene.
REFERENCE   6  (bases 1 to 2447)
  AUTHORS   Tang,K., Finley,R.L. Jr., Nie,D. and Honn,K.V.
  TITLE     Identification of 12-lipoxygenase interaction with cellular
            proteins by yeast two-hybrid screening
  JOURNAL   Biochemistry 39 (12), 3185-3191 (2000)
   PUBMED   10727209
REFERENCE   7  (bases 1 to 2447)
  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   8  (bases 1 to 2447)
  AUTHORS   Langbein,L., Rogers,M.A., Winter,H., Praetzel,S., Beckhaus,U.,
            Rackwitz,H.R. and Schweizer,J.
  TITLE     The catalog of human hair keratins. I. Expression of the nine type
            I members in the hair follicle
  JOURNAL   J Biol Chem 274 (28), 19874-19884 (1999)
   PUBMED   10391933
REFERENCE   9  (bases 1 to 2447)
  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 2447)
  AUTHORS   Rogers,M.A., Winter,H., Langbein,L., Krieg,T. and Schweizer,J.
  TITLE     Genomic characterization of the human type I cuticular hair keratin
            hHa2 and identification of an adjacent novel type I hair keratin
            gene hHa5
  JOURNAL   J Invest Dermatol 107 (4), 633-638 (1996)
   PUBMED   8823373
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from AC078865.22 and X99140.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002283.3.
            
            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. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: X99140.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257901.7/ ENSP00000257901.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC078865.22        45660-45669
            11-1721             X99140.1           1-1711
            1722-1722           AC078865.22        52410-52410
            1723-2083           X99140.1           1713-2073
            2084-2084           AC078865.22        52772-52772
            2085-2375           X99140.1           2075-2365
            2376-2376           AC078865.22        53064-53064
            2377-2447           X99140.1           2367-2437
FEATURES             Location/Qualifiers
     source          1..2447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2447
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /note="keratin 85"
                     /db_xref="GeneID:3891"
                     /db_xref="HGNC:HGNC:6462"
                     /db_xref="MIM:602767"
     exon            1..496
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1600
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     keratin, hair, basic, 5; keratin, type II cuticular Hb5;
                     hard keratin, type II, 5; hair keratin K2.12; type-II
                     keratin Kb25; type II hair keratin Hb5; keratin 85, type
                     II"
                     /codon_start=1
                     /product="keratin, type II cuticular Hb5 isoform 1"
                     /protein_id="NP_002274.1"
                     /db_xref="CCDS:CCDS8824.1"
                     /db_xref="GeneID:3891"
                     /db_xref="HGNC:HGNC:6462"
                     /db_xref="MIM:602767"
                     /translation="MSCRSYRISSGCGVTRNFSSCSAVAPKTGNRCCISAAPYRGVSC
                     YRGLTGFGSRSLCNLGSCGPRIAVGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNE
                     SLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKWQFYQN
                     QRCCESNLEPLFSGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALR
                     ATAENEFVVLKKDVDCAYLRKSDLEANVEALVEESSFLRRLYEEEIRVLQAHISDTSV
                     IVKMDNSRDLNMDCIIAEIKAQYDDVASRSRAEAESWYRSKCEEMKATVIRHGETLRR
                     TKEEINELNRMIQRLTAEIENAKCQRAKLEAAVAEAEQQGEAALSDARCKLAELEGAL
                     QKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEHRLCEGVGSVNVCVSSSRG
                     GVSCGGLSYSTTPGRQITSGPSAIGGSITVVAPDSCAPCQPRSSSFSCGSSRSVRFA"
     exon            497..705
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            706..766
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            767..862
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1027
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1153
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1374
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1406
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..2447
                     /gene="KRT85"
                     /gene_synonym="ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agaaggatcc tgagcctcgc actctgccgc ccgcaccacc ttccgctgcc tctcagactc
       61 tgctcagcct cacacgatgt cgtgccgctc ctacaggatc agctcaggat gcggggtcac
      121 caggaacttc agctcctgct cagctgtggc ccccaaaact ggcaaccgct gctgcatcag
      181 cgccgccccc taccgagggg tgtcctgcta ccgagggctg acgggcttcg gcagccgcag
      241 cctctgcaac ctgggctcct gcgggccccg gatagctgta ggtggcttcc gagccggctc
      301 ctgcggacgc agcttcggct accgctccgg gggcgtgtgc ggacccagcc ccccatgcat
      361 cactaccgtg tcggtcaacg agagcctcct cacgcccctc aacctggaga tcgaccccaa
      421 cgcacagtgc gtgaagcagg aggagaagga gcagatcaag tccctcaaca gcaggttcgc
      481 ggccttcatc gacaaggtgc gcttcctgga gcagcagaac aagctgctgg agaccaagtg
      541 gcagttctac cagaaccagc gctgctgcga gagcaacctg gagccactgt tcagtggcta
      601 catcgagact ctgcggcggg aggccgagtg cgtggaggcc gacagcggga ggctggcctc
      661 agagctcaac catgtgcagg aggtgctgga gggctacaag aagaagtatg aagaggaggt
      721 ggccctgaga gccacagcag agaatgagtt tgtcgttcta aagaaggacg tggactgtgc
      781 ctacctgcgg aaatcagacc tggaggccaa tgtggaggcc ctggtggagg agtctagctt
      841 cctgaggcgc ctctatgaag aggagatccg cgttctccaa gcccacatct cagacacctc
      901 ggtcatagtc aagatggaca acagccgaga cctgaacatg gactgcatca tcgctgagat
      961 caaggctcag tatgacgatg ttgccagccg cagccgggcc gaggctgagt cctggtaccg
     1021 tagcaagtgt gaggagatga aggccacggt gatcaggcat ggggagaccc tgcgccgcac
     1081 caaggaggag atcaacgagc tgaaccgcat gatccagagg ctgacggccg agattgagaa
     1141 tgccaagtgc cagcgtgcca agctggaggc tgctgtggct gaggcagagc agcagggtga
     1201 ggcggccctc agcgatgccc gctgcaagct ggctgagctg gagggcgccc tgcagaaggc
     1261 caagcaggac atggcctgcc tgctcaagga gtaccaggag gtgatgaact ccaagctggg
     1321 cctggacatc gagatcgcca cctacaggcg cctgctggag ggcgaggaac acaggctgtg
     1381 tgaaggtgtg ggctctgtga atgtctgtgt cagcagctcc cgtggtggag tctcctgtgg
     1441 gggcctctcc tacagcacca ccccagggcg ccagatcact tctggcccct cagccatagg
     1501 cggcagcatc acggtggtgg cccctgactc ctgtgccccc tgccagcctc gttcctccag
     1561 cttcagctgc gggagtagcc ggtcggtccg ctttgcctag tagagtcatg gagccagggc
     1621 ttcctgccaa gcacctgcct gcctgcatca ctgcactgaa tggcatgtga atggaaaatg
     1681 tgtgcttgct tccagaatct tctggatgtt cctacagagg gaaagaccta cagagggaaa
     1741 gaccctcggg ccgctcccct gcgccttttc atgctaggga gatgcatcct agttgtcctc
     1801 ctggcagctg ttttcagagg cattcccagc ccttcactta actcctactt agctccaaaa
     1861 tacctgtatc caatttgtat tattccccca gctctcaggg acaagaccag tcccccagcg
     1921 tggtggtcag cacggaagct ccaccttctg ggtggaggcg ccatcctaac catccagcca
     1981 ggccacccac aacccgagaa tcagggagaa agtccctccc cagcagcccc ctcctcctgg
     2041 ctgggaagaa tggtccccca gcaagcactt gcctgttcat tcctgttcat gttttgcttc
     2101 tctctcagac tgccttcctg cttctgggct aacctgttcc agccaggctc ctcatgtgac
     2161 ctcgcagttg agaagcccat tatcgtgggg catccttttg cctacagccc ctggttaggg
     2221 cactttggac aggtcttgct attcagtgaa cctttgtaca tttcaaagaa gactccatgg
     2281 ctgctccaga tgcccccttg ctgggtgcag gtggggactg tccaatgcag agctggcggg
     2341 acagagagtt aagccacttc ctgggtctcc ttcttgtgac tgtctatggg tgcattgcct
     2401 tctgggttgt ctcgatctgt gtttcaataa atgccgctgc aatgcaa
//
