LOCUS       NM_181534               1669 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens keratin 25 (KRT25), mRNA.
ACCESSION   NM_181534
VERSION     NM_181534.4
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 1669)
  AUTHORS   Raza,R., Chhabra,G., Bilal,M., Ndiaye,M.A., Liaqat,K., Nawaz,S.,
            Sgro,J.Y., Rayment,I., Ahmad,W. and Ahmad,N.
  TITLE     A Homozygous Missense Variant in K25 Underlying Overlapping
            Phenotype with Woolly Hair and Dental Anomalies
  JOURNAL   J Invest Dermatol 143 (1), 173-176 (2023)
   PUBMED   35926655
  REMARK    GeneRIF: A Homozygous Missense Variant in K25 Underlying
            Overlapping Phenotype with Woolly Hair and Dental Anomalies.
REFERENCE   2  (bases 1 to 1669)
  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 1669)
  AUTHORS   Yu,X., Chen,F., Ni,C., Zhang,G., Zheng,L., Zhang,J., Li,C.,
            Sandilands,A., Yao,Z. and Li,M.
  TITLE     A Missense Mutation within the Helix Termination Motif of KRT25
            Causes Autosomal Dominant Woolly Hair/Hypotrichosis
  JOURNAL   J Invest Dermatol 138 (1), 230-233 (2018)
   PUBMED   28899683
  REMARK    GeneRIF: Study reports a Chinese autosomal dominant woolly
            hair/hypotrichosis pedigree that results from a heterozygous
            nonsynonymous variant in KRT25 and conclude that mutation in KRT25
            affects the stability of the cytoskeleton and hypothesize that this
            is how it affects hair in woolly hair syndromes.
REFERENCE   4  (bases 1 to 1669)
  AUTHORS   Zernov,N.V., Skoblov,M.Y., Marakhonov,A.V., Shimomura,Y.,
            Vasilyeva,T.A., Konovalov,F.A., Abrukova,A.V. and Zinchenko,R.A.
  TITLE     Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a
            Mutation in the Keratin 25 Gene Expressed in Hair Follicles
  JOURNAL   J Invest Dermatol 136 (6), 1097-1105 (2016)
   PUBMED   26902920
REFERENCE   5  (bases 1 to 1669)
  AUTHORS   Ansar,M., Raza,S.I., Lee,K., Irfanullah, Shahi,S., Acharya,A.,
            Dai,H., Smith,J.D., Shendure,J., Bamshad,M.J., Nickerson,D.A.,
            Santos-Cortez,R.L., Ahmad,W. and Leal,S.M.
  TITLE     A homozygous missense variant in type I keratin KRT25 causes
            autosomal recessive woolly hair
  JOURNAL   J Med Genet 52 (10), 676-680 (2015)
   PUBMED   26160856
  REMARK    GeneRIF: KRT25 is involved in human hair abnormality, and is
            consistent with the curled, fragile hair found in mice with Krt25
            mutations.
REFERENCE   6  (bases 1 to 1669)
  AUTHORS   Choi,H.I., Choi,G.I., Kim,E.K., Choi,Y.J., Sohn,K.C., Lee,Y.,
            Kim,C.D., Yoon,T.J., Sohn,H.J., Han,S.H., Kim,S., Lee,J.H. and
            Lee,Y.H.
  TITLE     Hair greying is associated with active hair growth
  JOURNAL   Br J Dermatol 165 (6), 1183-1189 (2011)
   PUBMED   21916889
REFERENCE   7  (bases 1 to 1669)
  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   8  (bases 1 to 1669)
  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   9  (bases 1 to 1669)
  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 AK129503.1 and AJ564204.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_181534.3.
            
            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].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ564204.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312150.5/ ENSP00000310573.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-256               AK129503.1         17-272
            257-1669            AJ564204.1         239-1651
FEATURES             Location/Qualifiers
     source          1..1669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1669
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /note="keratin 25"
                     /db_xref="GeneID:147183"
                     /db_xref="HGNC:HGNC:30839"
                     /db_xref="MIM:616646"
     exon            1..489
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1413
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /note="type I inner root sheath specific keratin 25 irs1;
                     K25; K25A; keratin 25, type I; CK-25; keratin-25A;
                     cytokeratin-25; type I inner root sheath-specific
                     keratin-K25irs1"
                     /codon_start=1
                     /product="keratin, type I cytoskeletal 25"
                     /protein_id="NP_853512.1"
                     /db_xref="CCDS:CCDS11373.1"
                     /db_xref="GeneID:147183"
                     /db_xref="HGNC:HGNC:30839"
                     /db_xref="MIM:616646"
                     /translation="MSLRLSSASRRSCPRPTTGSLRLYGGGTSFGTGNSCGISGIGSG
                     FSSAFGGSSSGGNTGGGNPCAGFTVNERGLLSGNEKVTMQNLNDRLASYLDSVHALEE
                     ANADLEQKIKGWYEKFGPGSCRGLDHDYSRYFPIIDDLKNQIIASTTSNANAVLQIDN
                     ARLTADDFRLKYENELALHQSVEADVNGLRRVLDEITLCRTDLEIQYETLSEEMTYLK
                     KNHKEEMQVLQCAAGGNVNVEMNAAPGVDLTVLLNNMRAEYEALAEQNRRDAEAWFNE
                     KSASLQQQISEDVGATTSARNELTEMKRTLQTLEIELQSLLATKHSLECSLTETESNY
                     CAQLAQIQAQIGALEEQLHQVRTETEGQKLEYEQLLDIKLHLEKEIETYCLLIGGDDG
                     ACKSGGYKSKDYGSGNVGSQVKDPAKAIVVKKVLEEVDQRSKILTTRLHSLEEKSQSN
                     "
     exon            490..572
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     exon            573..729
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     exon            730..891
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1017
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1235
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1303
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1669
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1645..1650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /note="hexamer: AATAAA"
     polyA_site      1669
                     /gene="KRT25"
                     /gene_synonym="ARWH3; KRT24IRS1; KRT25A"
                     /note="major polyA site"
ORIGIN      
        1 agaaggcact ccattctggc tttcacaaat acagctctgc aacgcgtttg ccctgatacc
       61 atgtctcttc gactttccag tgcatccagg aggtcctgtc ctcgtcccac cactggatca
      121 ctcagactct atggtggggg aaccagcttt ggtactggaa attcttgtgg catttcaggg
      181 attggaagtg gcttctctag tgccttcgga ggcagctcat cgggaggaaa cacaggggga
      241 ggtaatccct gtgctggctt cactgtgaat gagcgggggc tcctttctgg caatgagaag
      301 gtgaccatgc agaacctcaa tgaccgcctg gcatcctacc tggacagtgt gcatgctctg
      361 gaggaggcca acgctgacct ggagcagaag atcaagggct ggtatgagaa atttgggcct
      421 ggctcttgcc gtggtcttga tcatgactat agcagatatt tcccaataat tgatgacctt
      481 aaaaatcaga tcatcgcatc caccaccagc aatgctaatg ctgttctgca gatcgataat
      541 gccaggctta cagctgatga tttcagactc aagtatgaaa atgagctggc tcttcaccag
      601 agtgtagagg ctgatgtcaa tgggttacga agagttttgg atgaaataac cctgtgcaga
      661 acagatctgg agattcagta tgaaaccctg agtgaggaga tgacttacct caaaaagaac
      721 cataaagagg aaatgcaagt tctgcagtgc gcagctggag gcaacgtgaa cgtggagatg
      781 aacgcagccc ccggggtgga cctcacagtt ctgctgaaca acatgcgagc tgagtacgaa
      841 gcccttgcag agcagaaccg cagggacgcg gaggcctggt tcaacgagaa gagcgcctcc
      901 ctgcagcagc agatctctga ggatgtcgga gccacaacct cagcccggaa tgagctgact
      961 gaaatgaagc gcactcttca aaccctggaa attgaacttc agtctctcct agccacgaaa
     1021 cactccctgg agtgctcctt gacagagacc gagagcaact actgtgcgca gctggcgcag
     1081 atccaggctc agatcggggc cctggaggag cagctgcacc aggtcagaac cgagaccgag
     1141 ggccagaagc tggagtatga gcagctcctg gacatcaagc tccacctgga aaaagaaatt
     1201 gagacctact gtctccttat aggaggagat gatggagcct gtaagtctgg gggttacaag
     1261 tctaaagatt atggatctgg aaatgtggga agtcaagtca aagacccagc caaagccata
     1321 gtggttaaga aagttcttga ggaggtagac caacgcagca aaatacttac caccaggctc
     1381 cactccctgg aagagaaatc tcaaagcaat taatttgaga tgcaacagag aacgtatgcc
     1441 acatagcccc tgcgaagaaa aggcattatg tatctgtcca gaaaaatgtg catgtctaag
     1501 aaaaatgtct aacctgttgt ctttctgtta ctttctttct gggcaatcaa tgacagcatc
     1561 tccccattca tctagaagaa tgccacacac aaatatgact catttgatta tcctacagaa
     1621 atctgttgtc aattctttgt attcaataaa cctcttcttt agcaagtta
//
