LOCUS       NM_001389244            1831 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens keratin 40 (KRT40), transcript variant 4, mRNA.
ACCESSION   NM_001389244 XM_017024189
VERSION     NM_001389244.1
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 1831)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1831)
  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 1831)
  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 1831)
  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   5  (bases 1 to 1831)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 1831)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (bases 1 to 1831)
  AUTHORS   Langbein,L., Rogers,M.A., Praetzel-Wunder,S., Bockler,D.,
            Schirmacher,P. and Schweizer,J.
  TITLE     Novel type I hair keratins K39 and K40 are the last to be expressed
            in differentiation of the hair: completion of the human hair
            keratin catalog
  JOURNAL   J Invest Dermatol 127 (6), 1532-1535 (2007)
   PUBMED   17301834
  REMARK    GeneRIF: KRT39 and KRT40 expression patterns complete sequential
            expression of the 16 hair keratins in the human hair follicle
REFERENCE   8  (bases 1 to 1831)
  AUTHORS   Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B.,
            Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and
            Wright,M.W.
  TITLE     New consensus nomenclature for mammalian keratins
  JOURNAL   J Cell Biol 174 (2), 169-174 (2006)
   PUBMED   16831889
REFERENCE   9  (bases 1 to 1831)
  AUTHORS   Rogers,M.A., Winter,H., Langbein,L., Bleiler,R. and Schweizer,J.
  TITLE     The human type I keratin gene family: characterization of new hair
            follicle specific members and evaluation of the chromosome 17q21.2
            gene domain
  JOURNAL   Differentiation 72 (9-10), 527-540 (2004)
   PUBMED   15617563
REFERENCE   10 (bases 1 to 1831)
  AUTHORS   Hesse,M., Zimek,A., Weber,K. and Magin,T.M.
  TITLE     Comprehensive analysis of keratin gene clusters in humans and
            rodents
  JOURNAL   Eur J Cell Biol 83 (1), 19-26 (2004)
   PUBMED   15085952
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007455.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 3, 2020 this sequence version replaced XM_017024189.2.
            
            Summary: This gene encodes a member of the type I (acidic) keratin
            family, which belongs to the superfamily of intermediate filament
            (IF) proteins. Keratins are heteropolymeric structural proteins
            which form the intermediate filament. These filaments, along with
            actin microfilaments and microtubules, compose the cytoskeleton of
            epithelial cells. The type I keratin genes are clustered in a
            region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ786658.1, BK004055.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377755.9/ ENSP00000366984.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-500               AC007455.7         65872-66371
            501-583             AC007455.7         67070-67152
            584-740             AC007455.7         67735-67891
            741-902             AC007455.7         69047-69208
            903-1028            AC007455.7         69288-69413
            1029-1249           AC007455.7         71174-71394
            1250-1831           AC007455.7         71902-72483
FEATURES             Location/Qualifiers
     source          1..1831
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1831
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /note="keratin 40"
                     /db_xref="GeneID:125115"
                     /db_xref="HGNC:HGNC:26707"
                     /db_xref="MIM:616679"
     exon            1..500
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..1349
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /note="type I hair keratin KA36; cytokeratin-40; keratin
                     40, type I"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 40"
                     /protein_id="NP_001376173.1"
                     /db_xref="CCDS:CCDS42320.1"
                     /db_xref="GeneID:125115"
                     /db_xref="HGNC:HGNC:26707"
                     /db_xref="MIM:616679"
                     /translation="MTSDCSSTHCSPESCGTASGCAPASSCSVETACLPGTCATSRCQ
                     TPSFLSRSRGLTGCLLPCYFTGSCNSPCLVGNCAWCEDGVFTSNEKETMQFLNDRLAS
                     YLEKVRSLEETNAELESRIQEQCEQDIPMVCPDYQRYFNTIEDLQQKILCTKAENSRL
                     AVQLDNCKLATDDFKSKYESELSLRQLLEADISSLHGILEELTLCKSDLEAHVESLKE
                     DLLCLKKNHEEEVNLLREQLGDRLSVELDTAPTLDLNRVLDEMRCQCETVLANNRREA
                     EEWLAVQTEELNQQQLSSAEQLQGCQMEILELKRTASALEIELQAQQSLTESLECTVA
                     ETEAQYSSQLAQIQCLIDNLENQLAEIRCDLERQNQEYQVLLDVKARLEGEINTYWGL
                     LDSEDSRLSCSPCSTTCTSSNTCEPCSAYVICTVENCCL"
     exon            501..583
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     exon            584..740
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     exon            741..902
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1028
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1249
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1831
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1570..1575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /note="hexamer: AATAAA"
     polyA_site      1603
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /note="major polyA site"
     regulatory      1811..1816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /note="hexamer: AATAAA"
     polyA_site      1831
                     /gene="KRT40"
                     /gene_synonym="CK-40; K40; KA36"
                     /note="major polyA site"
ORIGIN      
        1 gagtcaaggc aactgaagtt ttgcagccag tctctgtctt tgcttctgga aggatgactt
       61 ctgactgctc ctccacacac tgctctcctg agtcctgtgg cacggcttcc ggttgtgcac
      121 ctgcctcaag ctgctccgtg gaaacagctt gtctccccgg tacctgtgct acatcccgat
      181 gtcagactcc aagcttccta tccaggtctc gcgggctgac tggttgcctc ctgccatgct
      241 actttactgg gagttgtaat agtccctgct tggtggggaa ctgtgcctgg tgtgaggatg
      301 gggtgttcac tagcaatgag aaggagacga tgcagttcct gaatgacaga ctcgccagct
      361 atctggagaa ggtgcgcagc ctggaggaga ccaacgcaga gctggaatcc aggatccaag
      421 aacaatgtga acaggatatc ccaatggtgt gcccggatta tcagcgttac ttcaacacca
      481 ttgaagatct ccaacaaaag atcttatgca cgaaagcaga gaattctaga cttgctgtac
      541 agcttgacaa ctgcaaactg gccactgatg actttaagtc aaagtacgag agtgaactgt
      601 cccttcgcca gctgttagag gctgacatca gcagcctgca tgggatcctg gaggaactga
      661 ccctgtgcaa atctgatctg gaggcccatg tggagtctct gaaggaagat ctcctttgcc
      721 ttaagaaaaa ccatgaagag gaagtcaact tgcttcgtga acagcttggc gaccgcctca
      781 gtgtggagct ggacactgcc cccacccttg acctcaacag ggtcctggat gagatgcgct
      841 gtcagtgtga aacggtgctt gccaacaatc gcagagaagc tgaagaatgg ttggctgttc
      901 agacagaaga gctgaatcag cagcaactgt ccagcgcgga gcagctgcag ggctgccaga
      961 tggagatctt ggaactgaaa cgcacagcca gtgctctgga aattgagctc caagcacagc
     1021 aaagcctgac agaatctctg gaatgcaccg tggcagaaac cgaggcccag tacagctccc
     1081 agctggccca aattcagtgt ctgatcgata acctggagaa ccagctggcc gagatccgct
     1141 gcgacctgga gcgacagaac caggagtacc aggtgctcct ggacgtgaag gcccggctgg
     1201 agggtgagat caacacgtac tggggcctgc tggacagcga ggacagcagg ctttcctgta
     1261 gcccatgttc gaccacatgc acctcgagca acacttgtga gccatgctca gcctatgtca
     1321 tctgcactgt tgaaaactgc tgcttgtgaa tgttaaggac agcaggtaga ggaatcaaag
     1381 ccagcagcat cctagaaagg agatggggct tcaaccaggg acatccaaac cggaagcaca
     1441 aatccaggag gctctcatat cctggaattg ccctccaggt atcctcagtc tttctgcttt
     1501 actatttcct ctccttccgg cttatttgtg gtatactgga agcccataaa gcattcttgc
     1561 tcatctccaa ataaaacgtg ttttattcct ttagcgtggt aaatatagct ctatggctga
     1621 ttactgttga tagaatattc attttatggc aaggaaatca tctaaaccca taaccatagt
     1681 ttcaatgtac ataaacccag gctgaaaata ttttttaact cctcaaatac aaataaatta
     1741 atgaacccat gagaaatgtc atatatctta gaaaatagtt gtgtgtatct ttctgaggaa
     1801 aaatattagg aataaaatat gataaaatgt a
//
