LOCUS       NM_004795               5014 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens klotho (KL), mRNA.
ACCESSION   NM_004795
VERSION     NM_004795.4
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 5014)
  AUTHORS   Wang,Z., Zhang,H., Zheng,G., Wang,Z. and Shi,L.
  TITLE     Gender-specific association between circulating serum Klotho and
            metabolic components in adults
  JOURNAL   BMC Endocr Disord 24 (1), 198 (2024)
   PUBMED   39334012
  REMARK    GeneRIF: Gender-specific association between circulating serum
            Klotho and metabolic components in adults.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5014)
  AUTHORS   Dong,J., Liu,M., Xiang,G., Yue,L., Xu,X. and Xiang,L.
  TITLE     The association between serum soluble alpha-Klotho and thyroid
            profile among adults from NHANES 2007-2012
  JOURNAL   BMC Endocr Disord 24 (1), 161 (2024)
   PUBMED   39198803
  REMARK    GeneRIF: The association between serum soluble alpha-Klotho and
            thyroid profile among adults from NHANES 2007-2012.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5014)
  AUTHORS   Prud'homme,G.J. and Wang,Q.
  TITLE     Anti-Inflammatory Role of the Klotho Protein and Relevance to Aging
  JOURNAL   Cells 13 (17), 1413 (2024)
   PUBMED   39272986
  REMARK    GeneRIF: Anti-Inflammatory Role of the Klotho Protein and Relevance
            to Aging.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5014)
  AUTHORS   Garcia-Montero,C., Fraile-Martinez,O., Cobo-Prieto,D., De
            Leon-Oliva,D., Boaru,D.L., De Castro-Martinez,P., Pekarek,L.,
            Gragera,R., Hernandez-Fernandez,M., Guijarro,L.G.,
            Toledo-Lobo,M.D.V., Lopez-Gonzalez,L., Diaz-Pedrero,R.,
            Monserrat,J., Alvarez-Mon,M., Saez,M.A. and Ortega,M.A.
  TITLE     Abnormal Histopathological Expression of Klotho, Ferroptosis, and
            Circadian Clock Regulators in Pancreatic Ductal Adenocarcinoma:
            Prognostic Implications and Correlation Analyses
  JOURNAL   Biomolecules 14 (8), 947 (2024)
   PUBMED   39199335
  REMARK    GeneRIF: Abnormal Histopathological Expression of Klotho,
            Ferroptosis, and Circadian Clock Regulators in Pancreatic Ductal
            Adenocarcinoma: Prognostic Implications and Correlation Analyses.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5014)
  AUTHORS   Winarni,T.I., Hwang,Y.H., Rivera,S.M., Hessl,D.,
            Durbin-Johnson,B.P., Utari,A., Hagerman,R. and Tassone,F.
  TITLE     Apolipoproteine and KLOTHO Gene Variants Do Not Affect the
            Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome
  JOURNAL   Int J Mol Sci 25 (15), 8103 (2024)
   PUBMED   39125677
  REMARK    GeneRIF: Apolipoproteine and KLOTHO Gene Variants Do Not Affect the
            Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5014)
  AUTHORS   Ong,S.H., Guy,G.R., Hadari,Y.R., Laks,S., Gotoh,N., Schlessinger,J.
            and Lax,I.
  TITLE     FRS2 proteins recruit intracellular signaling pathways by binding
            to diverse targets on fibroblast growth factor and nerve growth
            factor receptors
  JOURNAL   Mol Cell Biol 20 (3), 979-989 (2000)
   PUBMED   10629055
REFERENCE   7  (bases 1 to 5014)
  AUTHORS   Carpenter,G. and Ji,Qs.
  TITLE     Phospholipase C-gamma as a signal-transducing element
  JOURNAL   Exp Cell Res 253 (1), 15-24 (1999)
   PUBMED   10579907
  REMARK    Review article
REFERENCE   8  (bases 1 to 5014)
  AUTHORS   Matsumura,Y., Aizawa,H., Shiraki-Iida,T., Nagai,R., Kuro-o,M. and
            Nabeshima,Y.
  TITLE     Identification of the human klotho gene and its two transcripts
            encoding membrane and secreted klotho protein
  JOURNAL   Biochem Biophys Res Commun 242 (3), 626-630 (1998)
   PUBMED   9464267
REFERENCE   9  (bases 1 to 5014)
  AUTHORS   Kuro-o,M., Matsumura,Y., Aizawa,H., Kawaguchi,H., Suga,T.,
            Utsugi,T., Ohyama,Y., Kurabayashi,M., Kaname,T., Kume,E.,
            Iwasaki,H., Iida,A., Shiraki-Iida,T., Nishikawa,S., Nagai,R. and
            Nabeshima,Y.I.
  TITLE     Mutation of the mouse klotho gene leads to a syndrome resembling
            ageing
  JOURNAL   Nature 390 (6655), 45-51 (1997)
   PUBMED   9363890
REFERENCE   10 (bases 1 to 5014)
  AUTHORS   Ramnitz,M.S., Gafni,R.I. and Collins,M.T.
  TITLE     Hyperphosphatemic Familial Tumoral Calcinosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29389098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161898.17, AB005142.1 and
            AA890465.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004795.3.
            
            Summary: This gene encodes a type-I membrane protein that is
            related to beta-glucosidases. Reduced production of this protein
            has been observed in patients with chronic renal failure (CRF), and
            this may be one of the factors underlying the degenerative
            processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy)
            seen in CRF. Also, mutations within this protein have been
            associated with ageing and bone loss. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on 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 :: AB005142.1, SRR1803611.233700.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380099.4/ ENSP00000369442.3
            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                AL161898.17        38450-38459
            11-837              AL161898.17        38460-39286
            838-1617            AB005142.1         828-1607
            1618-2637           AL161898.17        82705-83724
            2638-4893           AB005142.1         2628-4883
            4894-5014           AA890465.1         9-129               c
FEATURES             Location/Qualifiers
     source          1..5014
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.1"
     gene            1..5014
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /note="klotho"
                     /db_xref="GeneID:9365"
                     /db_xref="HGNC:HGNC:6344"
                     /db_xref="MIM:604824"
     exon            1..837
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..3057
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /EC_number="3.2.1.31"
                     /note="alpha-klotho"
                     /codon_start=1
                     /product="klotho precursor"
                     /protein_id="NP_004786.2"
                     /db_xref="CCDS:CCDS9347.1"
                     /db_xref="GeneID:9365"
                     /db_xref="HGNC:HGNC:6344"
                     /db_xref="MIM:604824"
                     /translation="MPASAPPRRPRPPPPSLSLLLVLLGLGGRRLRAEPGDGAQTWAR
                     FSRPPAPEAAGLFQGTFPDGFLWAVGSAAYQTEGGWQQHGKGASIWDTFTHHPLAPPG
                     DSRNASLPLGAPSPLQPATGDVASDSYNNVFRDTEALRELGVTHYRFSISWARVLPNG
                     SAGVPNREGLRYYRRLLERLRELGVQPVVTLYHWDLPQRLQDAYGGWANRALADHFRD
                     YAELCFRHFGGQVKYWITIDNPYVVAWHGYATGRLAPGIRGSPRLGYLVAHNLLLAHA
                     KVWHLYNTSFRPTQGGQVSIALSSHWINPRRMTDHSIKECQKSLDFVLGWFAKPVFID
                     GDYPESMKNNLSSILPDFTESEKKFIKGTADFFALCFGPTLSFQLLDPHMKFRQLESP
                     NLRQLLSWIDLEFNHPQIFIVENGWFVSGTTKRDDAKYMYYLKKFIMETLKAIKLDGV
                     DVIGYTAWSLMDGFEWHRGYSIRRGLFYVDFLSQDKMLLPKSSALFYQKLIEKNGFPP
                     LPENQPLEGTFPCDFAWGVVDNYIQVDTTLSQFTDLNVYLWDVHHSKRLIKVDGVVTK
                     KRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWALILPLGNQSQVNHTILQYYRCMAS
                     ELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENPYTALAFAEYARLCFQELGHHVK
                     LWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRHAQNGKISIALQADWIEPACP
                     FSQKDKEVAERVLEFDIGWLAEPIFGSGDYPWVMRDWLNQRNNFLLPYFTEDEKKLIQ
                     GTFDFLALSHYTTILVDSEKEDPIKYNDYLEVQEMTDITWLNSPSQVAVVPWGLRKVL
                     NWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALKAHILDGINLCGYFA
                     YSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGFPGPETLERFCPEEFTVCTE
                     CSFFHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK"
     exon            838..1348
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1617
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..2719
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /inference="alignment:Splign:2.1.0"
     exon            2720..5014
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4964..4969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /note="hexamer: ATTATA"
     regulatory      4975..4980
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /note="hexamer: AATAAA"
     polyA_site      4980
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
                     /note="major polyA site"
     polyA_site      5014
                     /gene="KL"
                     /gene_synonym="HFTC3; KLA"
ORIGIN      
        1 gcctggctcc cgcgcagcat gcccgccagc gccccgccgc gccgcccgcg gccgccgccg
       61 ccgtcgctgt cgctgctgct ggtgctgctg ggcctgggcg gccgccgcct gcgtgcggag
      121 ccgggcgacg gcgcgcagac ctgggcccgt ttctcgcggc ctcctgcccc cgaggccgcg
      181 ggcctcttcc agggcacctt ccccgacggc ttcctctggg ccgtgggcag cgccgcctac
      241 cagaccgagg gcggctggca gcagcacggc aagggtgcgt ccatctggga tacgttcacc
      301 caccaccccc tggcaccccc gggagactcc cggaacgcca gtctgccgtt gggcgccccg
      361 tcgccgctgc agcccgccac cggggacgta gccagcgaca gctacaacaa cgtcttccgc
      421 gacacggagg cgctgcgcga gctcggggtc actcactacc gcttctccat ctcgtgggcg
      481 cgagtgctcc ccaatggcag cgcgggcgtc cccaaccgcg aggggctgcg ctactaccgg
      541 cgcctgctgg agcggctgcg ggagctgggc gtgcagcccg tggtcaccct gtaccactgg
      601 gacctgcccc agcgcctgca ggacgcctac ggcggctggg ccaaccgcgc cctggccgac
      661 cacttcaggg attacgcgga gctctgcttc cgccacttcg gcggtcaggt caagtactgg
      721 atcaccatcg acaaccccta cgtggtggcc tggcacggct acgccaccgg gcgcctggcc
      781 cccggcatcc ggggcagccc gcggctcggg tacctggtgg cgcacaacct cctcctggct
      841 catgccaaag tctggcatct ctacaatact tctttccgtc ccactcaggg aggtcaggtg
      901 tccattgccc taagctctca ctggatcaat cctcgaagaa tgaccgacca cagcatcaaa
      961 gaatgtcaaa aatctctgga ctttgtacta ggttggtttg ccaaacccgt atttattgat
     1021 ggtgactatc ccgagagcat gaagaataac ctttcatcta ttctgcctga ttttactgaa
     1081 tctgagaaaa agttcatcaa aggaactgct gacttttttg ctctttgctt tggacccacc
     1141 ttgagttttc aacttttgga ccctcacatg aagttccgcc aattggaatc tcccaacctg
     1201 aggcaactgc tttcctggat tgaccttgaa tttaaccatc ctcaaatatt tattgtggaa
     1261 aatggctggt ttgtctcagg gaccaccaag agagatgatg ccaaatatat gtattacctc
     1321 aaaaagttca tcatggaaac cttaaaagcc atcaagctgg atggggtgga tgtcatcggg
     1381 tataccgcat ggtccctcat ggatggtttc gagtggcaca gaggttacag catcaggcgt
     1441 ggactcttct atgttgactt tctaagccag gacaagatgt tgttgccaaa gtcttcagcc
     1501 ttgttctacc aaaagctgat agagaaaaat ggcttccctc ctttacctga aaatcagccc
     1561 ctagaaggga catttccctg tgactttgct tggggagttg ttgacaacta cattcaagta
     1621 gataccactc tgtctcagtt taccgacctg aatgtttacc tgtgggatgt ccaccacagt
     1681 aaaaggctta ttaaagtgga tggggttgtg accaagaaga ggaaatccta ctgtgttgac
     1741 tttgctgcca tccagcccca gatcgcttta ctccaggaaa tgcacgttac acattttcgc
     1801 ttctccctgg actgggccct gattctccct ctgggtaacc agtcccaggt gaaccacacc
     1861 atcctgcagt actatcgctg catggccagc gagcttgtcc gtgtcaacat caccccagtg
     1921 gtggccctgt ggcagcctat ggccccgaac caaggactgc cgcgcctcct ggccaggcag
     1981 ggcgcctggg agaaccccta cactgccctg gcctttgcag agtatgcccg actgtgcttt
     2041 caagagctcg gccatcacgt caagctttgg ataacgatga atgagccgta tacaaggaat
     2101 atgacataca gtgctggcca caaccttctg aaggcccatg ccctggcttg gcatgtgtac
     2161 aatgaaaagt ttaggcatgc tcagaatggg aaaatatcca tagccttgca ggctgattgg
     2221 atagaacctg cctgcccttt ctcccaaaag gacaaagagg tggctgagag agttttggaa
     2281 tttgacattg gctggctggc tgagcccatt ttcggctctg gagattatcc atgggtgatg
     2341 agggactggc tgaaccaaag aaacaatttt cttcttcctt atttcactga agatgaaaaa
     2401 aagctaatcc agggtacctt tgactttttg gctttaagcc attataccac catccttgta
     2461 gactcagaaa aagaagatcc aataaaatac aatgattacc tagaagtgca agaaatgacc
     2521 gacatcacgt ggctcaactc ccccagtcag gtggcggtag tgccctgggg gttgcgcaaa
     2581 gtgctgaact ggctgaagtt caagtacgga gacctcccca tgtacataat atccaatgga
     2641 atcgatgacg ggctgcatgc tgaggacgac cagctgaggg tgtattatat gcagaattac
     2701 ataaacgaag ctctcaaagc ccacatactg gatggtatca atctttgcgg atactttgct
     2761 tattcgttta acgaccgcac agctccgagg tttggcctct atcgttatgc tgcagatcag
     2821 tttgagccca aggcatccat gaaacattac aggaaaatta ttgacagcaa tggtttcccg
     2881 ggcccagaaa ctctggaaag attttgtcca gaagaattca ccgtgtgtac tgagtgcagt
     2941 ttttttcaca cccgaaagtc tttactggct ttcatagctt ttctattttt tgcttctatt
     3001 atttctctct cccttatatt ttactactcg aagaaaggca gaagaagtta caaatagttc
     3061 tgaacatttt tctattcatt cattttgaaa taattatgca gacacatcag ctgttaacca
     3121 tttgcacctc taagtgttgt gaaactgtaa atttcataca tttgacttct agaaaacatt
     3181 tttgtggctt atgacagagg ttttgaaatg ggcataggtg atcgtaaaat attgaataat
     3241 gcgaatagtg cctgaatttg ttctcttttt gggtgattaa aaaactgaca ggcactataa
     3301 tttctgtaac acactaacaa aagcatgaaa aataggaacc acaccaatgc aacatttgtg
     3361 cagaaatttg aatgacaaga ttaggaatat tttcttctgc acccacttct aaatttaatg
     3421 tttttctgga agtagtaatt gcaagagttc gaatagaaag ttatgtacca agtaaccatt
     3481 tctcagctgc cataataatg cctagtggct tcccctctgt caaatctagt ttcctatgga
     3541 aaagaagatg gcagatacag gagagacgac agagggtcct aggctggaat gttcctttcg
     3601 aaagcaatgc ttctatcaaa tactagtatt aatttatgta tctggttaat gacatacttg
     3661 gagagcaaat tatggaaatg tgtattttat atgatttttg aggtcctgtc taaaccctgt
     3721 gtccctgagg gatctgtctc actggcatct tgttgagggc cttgcacata ggaaactttt
     3781 gataagtatc tgcggaaaaa caaacatgaa tcctgtgata ttgggctctt caggaagcat
     3841 aaagcaattg tgaaatacag tataccgcag tggctctagg tggaggaaag gaggaaaaag
     3901 tgcttattat gtgcaacatt atgattaatc tgattataca ccatttttga gcagatcttg
     3961 gaatgaatga catgaccttt ccctagagaa taaggatgaa ataatcactc attctatgaa
     4021 cagtgacact actttctatt ctttagctgt actgtaattt ctttgagttg atagttttac
     4081 aaattcttaa taggttcaaa agcaatctgg tctgaataac actggatttg tttctgtgat
     4141 ctctgaggtc tattttatgt ttttgctgct acttctgtgg aagtagcttt gaactagttt
     4201 tactttgaac tttcacgctg aaacatgcta gtgatatcta gaaagggcta attaggtctc
     4261 atcctttaat gccccttaaa taagtcttgc tgattttcag acagggaagt ctctctatta
     4321 cactggagct gttttataga taagtcaata ttgtatcagg caagataaac caatgtcata
     4381 acaggcattg ccaacctcac tgacacaggg tcatagtgta taataatata ctgtactata
     4441 taatatatca tctttagagg tatgattttt tcatgaaaga taagcttttg gtaatattca
     4501 ttttaaagtg gacttattaa aattggatgc tagagaatca agtttatttt atgtatatat
     4561 ttttctgatt ataagagtaa tatatgttca ttgtaaaaat ttttaaaaca cagaaactat
     4621 atgcaaagaa aaaataaaaa ttatctataa tctcagaacc cagaaatagc cactattaac
     4681 atttcctacg tattttattt tacatagatc atattgtata tagttagtat ctttattaat
     4741 ttttattatg aaactttcct ttgtcattat tagtcttcaa aagcatgatt tttaatagtt
     4801 gttgagtatt ccaccacagg aatgtatcac aacttaaccg ttcccgtttg ttagactagt
     4861 ttcttattaa tgttgatgaa tgttgtttaa aaataatttt gttgctacat ttactttaat
     4921 ttccttgact gtaaagagaa gtaattttgc tccttgataa agtattatat taataataaa
     4981 tctgcctgca actttttgcc ttctttcata atca
//
