LOCUS       NM_006771               2691 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens keratin 38 (KRT38), mRNA.
ACCESSION   NM_006771
VERSION     NM_006771.4
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 2691)
  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 2691)
  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 2691)
  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 2691)
  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 2691)
  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 2691)
  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   7  (bases 1 to 2691)
  AUTHORS   Buning,C., Halangk,J., Dignass,A., Ockenga,J., Deindl,P.,
            Nickel,R., Genschel,J., Landt,O., Lochs,H., Schmidt,H. and Witt,H.
  TITLE     Keratin 8 Y54H and G62C mutations are not associated with
            inflammatory bowel disease
  JOURNAL   Dig Liver Dis 36 (6), 388-391 (2004)
   PUBMED   15248378
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2691)
  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 2691)
  AUTHORS   Rogers,M.A., Winter,H., Wolf,C., Heck,M. and Schweizer,J.
  TITLE     Characterization of a 190-kilobase pair domain of human type I hair
            keratin genes
  JOURNAL   J Biol Chem 273 (41), 26683-26691 (1998)
   PUBMED   9756910
REFERENCE   10 (bases 1 to 2691)
  AUTHORS   Yu,J., Yu,D.W., Checkla,D.M., Freedberg,I.M. and Bertolino,A.P.
  TITLE     Human hair keratins
  JOURNAL   J Invest Dermatol 101 (1 Suppl), 56S-59S (1993)
   PUBMED   7686952
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Michael Rogers. The reference sequence was
            derived from BC131715.1 and AC019349.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 4, 2019 this sequence version replaced NM_006771.3.
            
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. As a type I hair keratin, it is an acidic
            protein which heterodimerizes with type II keratins to form hair
            and nails. The type I hair keratins are clustered in a region of
            chromosome 17q12-q21 and have the same direction of transcription.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: BC131715.1, AJ786656.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968189,
                                           SAMEA2148093 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246646.4/ ENSP00000246646.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1328              BC131715.1         219-1546
            1329-1329           AC019349.28        160619-160619
            1330-1676           BC131715.1         1548-1894
            1677-2691           AC019349.28        160967-161981
FEATURES             Location/Qualifiers
     source          1..2691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2691
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /note="keratin 38"
                     /db_xref="GeneID:8687"
                     /db_xref="HGNC:HGNC:6456"
                     /db_xref="MIM:604542"
     exon            1..554
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1433
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /note="keratin, hair, acidic, 8; K38; hair keratin, type I
                     Ha8; keratin 38, type I"
                     /codon_start=1
                     /product="keratin, type I cuticular Ha8"
                     /protein_id="NP_006762.3"
                     /db_xref="CCDS:CCDS11392.1"
                     /db_xref="GeneID:8687"
                     /db_xref="HGNC:HGNC:6456"
                     /db_xref="MIM:604542"
                     /translation="MTSSYSSSSCPLGCTMAPGARNVSVSPIDIGCQPGAEANIAPMC
                     LLANVAHANRVRVGSTPLGRPSLCLPPTCHTACPLPGTCHIPGNIGICGAYGENTLNG
                     HEKETMQFLNDRLANYLEKVRQLEQENAELEATLLERSKCHESTVCPDYQSYFHTIEE
                     LQQKILCSKAENARLIVQIDNAKLAADDFRIKLESERSLRQLVEADKCGTQKLLDDAT
                     LAKADLEAQQESLKEEQLSLKSNHEQEVKILRSQLGEKLRIELDIEPTIDLNRVLGEM
                     RAQYEAMLETNRQDVEQWFQAQSEGISLQDMSCSEELQCCQSEILELRCTVNALEVER
                     QAQHTLKDCLQNSLCEAEDRFGTELAQMQSLISNVEEQLSEIRADLERQNQEYQVLLD
                     VKTRLENEIATYRNLLESEDCKLPCNPCSTSPSCVTAPCAPRPSCGPCTTCGPTCGAS
                     TTGSRF"
     exon            555..637
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            638..794
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            795..956
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1082
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1303
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..2691
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2667..2672
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /note="hexamer: AATAAA"
     polyA_site      2691
                     /gene="KRT38"
                     /gene_synonym="HA8; hHa8; KRTHA8"
                     /note="major polyA site"
ORIGIN      
        1 agtctcagtg gttcagcttt cccagctgat ctgaagctcc tgtgcagcct cagcccaaca
       61 ccatgacctc ttcctacagc agctcctcat gccctctggg ttgcaccatg gctcctggag
      121 caagaaatgt ctctgtctct cccatcgaca ttgggtgcca gcctggggca gaggccaaca
      181 ttgcccccat gtgccttttg gccaacgtgg cacatgccaa ccgagtccgt gtggggtcca
      241 ctcccctggg ccgccccagc ctctgtctgc cgcctacctg ccacactgct tgtcccttgc
      301 cagggacctg ccacattcct ggcaacattg gaatctgtgg ggcctatggt gaaaacaccc
      361 tgaatggcca tgagaaggag accatgcagt tcctgaatga ccgcctggcc aactacctgg
      421 agaaggtgcg ccagctggag caggagaatg cggagctgga ggccacactc ctcgagagga
      481 gcaagtgcca cgagtccacc gtgtgccccg actaccagtc ttacttccac accatcgagg
      541 agctccaaca gaagatcctg tgcagcaagg ccgagaatgc caggctgatt gtacaaattg
      601 acaatgccaa gctggctgcc gatgacttta ggatcaagct ggagagtgag cgctccctgc
      661 gccagctggt ggaggcagac aagtgtggga cacagaagct cctggatgat gcgaccctgg
      721 ccaaggccga cctggaggcc cagcaggagt ccctgaagga ggagcagctc tccctcaaga
      781 gcaaccacga gcaggaagta aagattctga ggagtcagct gggggagaag ctccggattg
      841 agctggacat tgagcccacc attgacctga acagggtgct gggggagatg cgggctcagt
      901 atgaggccat gttggagacc aaccgccagg atgtggaaca gtggttccaa gcccagtctg
      961 aaggcatcag cctgcaggac atgtcctgct ccgaggagct gcagtgctgc cagtcggaga
     1021 tcctggagct gagatgcacg gtgaatgccc tggaggtgga gcgccaagcc cagcacacct
     1081 tgaaggactg tctgcagaac tccctgtgtg aagccgagga ccgcttcggc acggagctgg
     1141 cccagatgca gagcctcatc agcaacgtgg aggagcagct gtctgagatc cgggccgacc
     1201 tggagcggca aaaccaggag taccaggtgc tgctggacgt gaagacccgg ctggagaatg
     1261 agattgccac gtaccggaac cttctggaaa gcgaggactg caaactcccc tgcaatccgt
     1321 gctccacgtc tccctcctgc gtgactgccc cctgtgctcc tcgcccaagc tgtggcccct
     1381 gcaccacctg tgggcccacc tgtggagcca gcaccaccgg aagccgattc tgaattcctg
     1441 tggacccaca ggggctggct aaggcgaggg atacccaaag agagatgctt gttatacctt
     1501 tagaaaatct ggcttctaac tttctgtatg tataggcctg tccaaaggct atgagatacc
     1561 agggacagtg gaatcttgat ggaaatcctt cctttcctgc tcttggtttt cccaggtgag
     1621 ctctatgccc tcagtggctg gattgcagcc acccatggtg gctcagaata tctggattgg
     1681 agaggcataa ggttgaaaag cattttggag taggaacacg gcatgattta aaattgcact
     1741 tgcacttcaa gaacaccaac tttaacttga aatttttata gtttatgaca aaggaagtga
     1801 agaacagact tcactgtctg agatttccca catttcttgg gttgtttcta acattggcag
     1861 cctggattat ggccctaggg agagggaaat agaatcagaa ttgtacctga ccctgtcttt
     1921 tctaattccc ttctcctatc ctcctgcctc cctatcttgg aaactgatta agtggaaact
     1981 ttccttgtat caaatcctga gttttctcta cttcagggtt tctagctttg acaaaggacc
     2041 aggcttgcct tttctgtggc aacacagcct cttacatatg gcttccatag cttcttgcta
     2101 tgtgaaagga actttcagat taagaaattt ctctcttttt tctctataaa ttctgactct
     2161 ccagacttgt ctggctataa cccctgtccc tgtctaattc tcccagtcta aaatctaaac
     2221 aatgacttca tttttttcta gtactttctc ctgaagtatt gaaacctatt gattcaatgg
     2281 gtagagattt gctaagtatg atgtgcttcc acctcttctc ttcatactct ctaccttcct
     2341 taccatgatt cagccacact ggcctttctg ttccttggac atgcctggag acctgtccct
     2401 gctcttcctt ctctctgggg tgctcttccc cctccttata aatgttcagg tcagcggaaa
     2461 tgttccttcc tctgagagct cctgcttggc caccagccta aaggactcac aaccctggca
     2521 ctctgtcctg ctcattagca cctccaacag ctgaacttgc ctctgtatct gttgttttcc
     2581 caatcaaaat gcttacccaa gattaacaat tgttcattgc tgcatcccca gagcctagcc
     2641 cactgcttgg tacataatag atgcttaata aatatctgtt gaaagaacga a
//
