LOCUS       NM_019117               5765 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens kelch like family member 4 (KLHL4), transcript variant
            1, mRNA.
ACCESSION   NM_019117
VERSION     NM_019117.5
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 5765)
  AUTHORS   Choi,S.H., Cho,S.Y., Song,J. and Hur,M.W.
  TITLE     KLHL4, a novel p53 target gene, inhibits cell proliferation by
            activating p21WAF/CDKN1A
  JOURNAL   Biochem Biophys Res Commun 530 (3), 588-596 (2020)
   PUBMED   32753315
  REMARK    GeneRIF: KLHL4, a novel p53 target gene, inhibits cell
            proliferation by activating p21(WAF/CDKN1A).
REFERENCE   2  (bases 1 to 5765)
  AUTHORS   Dhanoa,B.S., Cogliati,T., Satish,A.G., Bruford,E.A. and
            Friedman,J.S.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5765)
  AUTHORS   Cheroki,C., Krepischi-Santos,A.C., Szuhai,K., Brenner,V., Kim,C.A.,
            Otto,P.A. and Rosenberg,C.
  TITLE     Genomic imbalances associated with mullerian aplasia
  JOURNAL   J Med Genet 45 (4), 228-232 (2008)
   PUBMED   18039948
REFERENCE   4  (bases 1 to 5765)
  AUTHORS   Braybrook,C., Warry,G., Howell,G., Mandryko,V., Arnason,A.,
            Bjornsson,A., Ross,M.T., Moore,G.E. and Stanier,P.
  TITLE     Physical and transcriptional mapping of the X-linked cleft palate
            and ankyloglossia (CPX) critical region
  JOURNAL   Hum Genet 108 (6), 537-545 (2001)
   PUBMED   11499681
REFERENCE   5  (bases 1 to 5765)
  AUTHORS   Braybrook,C., Warry,G., Howell,G., Arnason,A., Bjornsson,A.,
            Moore,G.E., Ross,M.T. and Stanier,P.
  TITLE     Identification and characterization of KLHL4, a novel human
            homologue of the Drosophila Kelch gene that maps within the
            X-linked cleft palate and Ankyloglossia (CPX) critical region
  JOURNAL   Genomics 72 (2), 128-136 (2001)
   PUBMED   11401425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z95400.2, AF284765.1,
            BC161675.1 and AL121884.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_019117.4.
            
            Summary: This gene encodes a member of the kelch family of
            proteins, which are characterized by kelch repeat motifs and a
            POZ/BTB protein-binding domain. It is thought that kelch repeats
            are actin binding domains. However, the specific function of this
            protein has not been determined. Alternative splicing of this gene
            results in two transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) uses an alternate last exon as
            compared to variant 2, resulting in a frameshift and use of a
            different stop codon. The encoded isoform (1) is 2 aa shorter than
            isoform 2 and has a distinct C-terminus.
            
            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 extent of this RefSeq
            transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC161675.1, SRR1660807.33341.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373119.9/ ENSP00000362211.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                Z95400.2           50805-50817
            14-3647             AF284765.1         11-3644
            3648-5585           BC161675.1         3683-5620
            5586-5586           AL121884.7         124-124
            5587-5765           BC161675.1         5622-5800
FEATURES             Location/Qualifiers
     source          1..5765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.31"
     gene            1..5765
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /note="kelch like family member 4"
                     /db_xref="GeneID:56062"
                     /db_xref="HGNC:HGNC:6355"
                     /db_xref="MIM:300348"
     exon            1..514
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..2249
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     kelch-like protein 4"
                     /codon_start=1
                     /product="kelch-like protein 4 isoform 1"
                     /protein_id="NP_061990.2"
                     /db_xref="CCDS:CCDS14457.1"
                     /db_xref="GeneID:56062"
                     /db_xref="HGNC:HGNC:6355"
                     /db_xref="MIM:300348"
                     /translation="MSVSGKKEFDVKQILRLRWRWFSHPFQGSTNTGSCLQQEGYEHR
                     GTPVQGRLKSHSRDRNGLKKSNSPVHHNILAPVPGPAPAHQRAVQNLQQHNLIVHFQA
                     NEDTPKSVPEKNLFKEACEKRAQDLEMMADDNIEDSTARLDTQHSEDMNATRSEEQFH
                     VINHAEQTLRKMENYLKEKQLCDVLLIAGHLRIPAHRLVLSAVSDYFAAMFTNDVLEA
                     KQEEVRMEGVDPNALNSLVQYAYTGVLQLKEDTIESLLAAACLLQLTQVIDVCSNFLI
                     KQLHPSNCLGIRSFGDAQGCTELLNVAHKYTMEHFIEVIKNQEFLLLPANEISKLLCS
                     DDINVPDEETIFHALMQWVGHDVQNRQGELGMLLSYIRLPLLPPQLLADLETSSMFTG
                     DLECQKLLMEAMKYHLLPERRSMMQSPRTKPRKSTVGALYAVGGMDAMKGTTTIEKYD
                     LRTNSWLHIGTMNGRRLQFGVAVIDNKLYVVGGRDGLKTLNTVECFNPVGKIWTVMPP
                     MSTHRHGLGVATLEGPMYAVGGHDGWSYLNTVERWDPEGRQWNYVASMSTPRSTVGVV
                     ALNNKLYAIGGRDGSSCLKSMEYFDPHTNKWSLCAPMSKRRGGVGVATYNGFLYVVGG
                     HDAPASNHCSRLSDCVERYDPKGDSWSTVAPLSVPRDAVAVCPLGDKLYVVGGYDGHT
                     YLNTVESYDAQRNEWKEEVPVNIGRAGACVVVVKLP"
     exon            515..682
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            683..819
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            820..1016
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1229
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1416
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1641
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1804
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1805..2017
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2189
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     exon            2190..5765
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3628..3633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /note="hexamer: AATAAA"
     polyA_site      3648
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /note="major polyA site"
     regulatory      5746..5751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /note="hexamer: AATAAA"
     polyA_site      5765
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
ORIGIN      
        1 gttagttcta cagaagaggc agaaaaacaa gagataacaa aggctccgtt tcctttctgt
       61 gagagaaggc ttttgtcttt cctcctgcta cgatgtcagt gtctggcaag aaagagtttg
      121 atgtgaaaca gatcctaagg ctacgctgga ggtggtttag tcatcctttt caaggttcca
      181 ccaacactgg aagctgtctt cagcaggaag gatatgagca tagagggacc ccggttcagg
      241 gcaggttgaa gagccactct cgggacagaa acggactgaa gaaaagcaac agtcctgtcc
      301 accacaatat actggcacca gtgccaggac cggcccctgc ccatcagaga gccgttcaga
      361 atttgcagca acataatctg atagtacatt ttcaagcaaa tgaagatact cctaaatcag
      421 ttccagagaa gaatttattc aaagaagctt gtgagaaacg cgcacaagat ttggagatga
      481 tggctgatga caatatagaa gattctacag caagattaga tacacaacac tctgaagaca
      541 tgaatgccac cagatctgaa gagcagttcc atgttataaa ccacgcagag caaactcttc
      601 gtaaaatgga gaactacttg aaagagaaac aactatgtga tgtgctactg attgcaggac
      661 acctccgcat cccagcccat aggttggttc tcagcgcagt gtctgattat tttgctgcaa
      721 tgtttactaa tgatgtgctt gaagccaaac aagaagaggt caggatggaa ggagtagatc
      781 caaatgcact aaattccttg gtgcagtatg cttacacagg agtcctgcaa ttgaaagaag
      841 ataccattga aagtttgctg gctgcagctt gtcttctgca gctgactcag gtcattgatg
      901 tttgctccaa ttttctcata aagcagctcc atccttcaaa ctgcttaggg attcgatcat
      961 ttggagatgc ccaaggctgt acagaacttc tgaacgtggc acacaaatac actatggaac
     1021 acttcattga ggtaataaaa aaccaagaat tcctcctgct tccagctaat gaaatttcaa
     1081 aacttctgtg cagtgatgac attaatgtgc ctgatgaaga gaccattttt catgctctaa
     1141 tgcagtgggt ggggcatgat gtgcagaata ggcaaggaga actggggatg ctgctttctt
     1201 acatcagact gccattactc ccaccacagt tactggcaga tcttgaaacc agttccatgt
     1261 ttactggtga tcttgagtgt cagaagctcc tgatggaagc tatgaagtat catcttttgc
     1321 ctgagagaag atccatgatg caaagccctc ggacaaagcc tagaaaatca actgtggggg
     1381 cactttatgc tgtaggaggc atggatgcta tgaaaggtac tactactatt gaaaaatatg
     1441 acctcaggac caacagttgg ctacatattg gcaccatgaa tggccgtagg cttcaatttg
     1501 gagtcgcagt tattgataat aagctctatg tcgtgggagg aagagacggt ttaaaaactt
     1561 tgaatacagt ggaatgtttt aatccagttg gcaaaatctg gactgtgatg cctcccatgt
     1621 caacacatcg gcacggctta ggtgtagcca ctcttgaagg accaatgtat gctgtaggtg
     1681 gtcatgatgg atggagctat ctaaatactg tagaaagatg ggaccctgag ggacgacagt
     1741 ggaattacgt agccagtatg tcaactccta gaagcacagt tggtgttgtt gcattaaaca
     1801 acaaattata tgctattggt ggacgtgatg gaagttcctg cctcaaatca atggaatact
     1861 ttgacccaca cactaacaag tggagtttgt gtgctccaat gtccaaaaga cgtggaggtg
     1921 tgggagttgc cacatacaat ggattcttat atgttgtagg ggggcatgat gcccctgctt
     1981 ccaaccattg ctccaggctt tctgactgtg tggaacggta tgatccaaaa ggtgattcat
     2041 ggtcaactgt ggcacctctg agtgttcctc gagatgctgt tgctgtgtgc cctcttggag
     2101 acaaactcta cgtggttgga ggatatgacg gacatactta tttgaacaca gttgagtcat
     2161 atgatgcaca gagaaatgaa tggaaagagg aagttcctgt taacattgga agagctggtg
     2221 catgtgttgt agtggtgaag ctaccctaaa gctatctatc tttatcaaat ggaatgaaac
     2281 tagataattt caagaaactg agtaggacaa agggagaaag aaatacatgt tctttttcct
     2341 gcaattaata atcagactgg aaaattgttg tatcatttta atttgtagtt acaattgctt
     2401 tcattcgtga agccgaaacg tttttaaaca tgaattacat atgaattatt aagcatatgt
     2461 gctttcgcag ctgataatat aaaaggaaat cccacagtct agatatagcc ccattactac
     2521 aaaatgctaa aatatttaat gaaaattgat ggtggccaca gtgtgcaggt tataaaagca
     2581 ttaatacatt tcaaggtaag agccttaaaa gttaaaaaca ttttcagttt ttttttaaaa
     2641 aacgtactct tattatctgg aacatagaaa tataaaaggt aacatctaaa gcttagaata
     2701 gtgtgatttt tagtaagcca ttattctcct attcaaataa tatcccaaag agctaaacaa
     2761 ttccttacat ttaccaagag gaaagctttt actgtgttga agctaaaaaa ataatggctc
     2821 tttgacaaaa cttgttatgt tgatcgcggt atgtcaaaat ttttacaggt ttgctcatct
     2881 gccagagcac acatataaat ttggtatttc ttaacatatt atcttgttag atttgttacc
     2941 agtaaaatat tactgtaatt tcatatacac agtctataca atgaaataat gaatatttat
     3001 catattgata caaactgtga cctcagcttc agagtgtcag ggcctcactt gtatagaatg
     3061 taatgttctc ctcaaacatt tatgttaact ctataaacaa atatcgttaa gttaaacaag
     3121 ttttcaaaaa caaaacaatt tttaaagtac cttaaaattg aggatgttac tcagtgttaa
     3181 cacatgggaa caccaaaata ttcaataagc ctggtcaatt ctatagttat cttttttgta
     3241 ccaacacatg cttttctgtt actgttatat tatccagtag aaaatgttag gatatgtgtg
     3301 ctatataaaa aaaaaaaaag acttgttaag ttttaaaata acaaaaatgg ctagttgaat
     3361 agtattttat gtgtaattct tccatttatt ctgtttaatt atacaactaa gatgaaatat
     3421 tgaaaaaccc tttgtgaaag taacttttca agtaaatgca caactttaga atttctacaa
     3481 ataagttctt ttaaacagtc tttttattgt ggattgtgaa atcaaaatct ggagaaatgc
     3541 ttataaaata tactactagc ttttaagttt taagaaagaa gaacgtaagt tgtacaaaga
     3601 tatttgtact ttgacaaact gaatttaaat aaactttatt tcctctcact atagtgtggc
     3661 tttagaatat atcaagtaca acctgaatgg actttttgat tttacatttc ctatatcact
     3721 aaaatactta aacacaaaaa taaaattcca ctcctttatt tcttcttaca cctgccattg
     3781 tctctaattc taaagagaga gctatagatt tctgcagttc tagaggtgaa gatagagaca
     3841 tagagaggct gtgaaacaca catacagccc tgttaggtct tttgaattca caccttattg
     3901 aaatcagtgt agaagtagag ttacctaaac ctttatcgcc aatgcacagc ttggcctgtt
     3961 aagttaaatg tgggtgtcaa ccagtggaaa agatcaaagg accttttgca gcctagcttg
     4021 ccaatcttcc agtaacaacg aggtgctacc aataggcaga ctgtgtctag agtcatgcat
     4081 ggacaagagg aaagtgaaag ttgaatactc tcttctcaat ggcatagctg gacttgatta
     4141 agtattgact catagaagag acatgtatgt ttcccggggc taccccttca tagctgcatt
     4201 taaaaatggt gttcaggcca ctatggctgc tgtggtttga atattttttt ccctcgaaaa
     4261 ctcatgttga aacttaactc ctaatgtagc agtactgaga ggcagggccc ttaagaggtg
     4321 attgggccat gaggtctgtg ccctcctgaa tggattaatc cattcatgga ttaatggatt
     4381 attatgagtg ggggactggt gactttatat gaaaaggaag gaagagtgac ctaagctagc
     4441 atgctcaggg tgcaccgtat gtcccctggt catgtgatgc tatgtgttac cttgggactt
     4501 acctgacagc tcttaccaac aagaaggcca tcccagatat ggcctctcaa cctcagactt
     4561 ctcagcctgc ctaactgtaa gaaattaatt ctttttcttt ataaattacc caggttctgt
     4621 tttaagcctc agaaaatgaa ctaagacaat gccctagatg agctgccaaa atctgagcag
     4681 atatgagcca tcagaataga gacctgcaga ggcccagggc actcaaacat aactgtgctt
     4741 gtctcagtca aacttaattg ggaaaaggag gagtaagagc aggccctttc tgacatgctt
     4801 tagcagagat aacttatcag ggctagttta aacaaatgtg tataggaaag gatgttattt
     4861 atatattctt acaagagtgt aagggctcac acatttactg tactcagatc tgaaagacaa
     4921 tgttgcttct tgattttttt ctataatcac tatgaccgtg ttcacgattc cctactctgc
     4981 aactctcagc atgcatcatg atgattctct aacactgtct gtcaccttcc tgtatttcca
     5041 cagagcatgc aagaacttct acaaaacttc tataccacac agaagctgaa agagactctg
     5101 gggcactaaa ttcagatcct ttctccacac agcaatgaca tttatcaatc tgactcaggt
     5161 gtggctgttg cccctttttg atatggaggg aacactgaaa gacagtttcc ttctggagtt
     5221 ccaaatgcaa tatagaaaaa aaaaccctgt gactctggat tttattttaa gttctctaac
     5281 aagactccta ccttgagatc ttagtctagg taaagaaaaa aaaaaaaagg tcatgaaaca
     5341 caaatgtcct caactgtcat cattctatgt ttactttctc ccaatcacat cacctgaggt
     5401 agaagagatt tttcagttgc tatttctctt cgtaatgaat tttctttaca tcctgtccac
     5461 actgctggag atactaagtc ccaacctaaa tgatggaagg agcatctccc ctcttgtctg
     5521 tggaagatat cacatgaact acctaatttt caagcatgga tctccatatt tcaaaggaaa
     5581 gttttaaaaa tgtttttaaa acttcaaata tctcaccaca gtgaattatg ggtaaggtga
     5641 taatatgttt aattagcttg atttaatcat cccacactgt atacatatgc caaaatatca
     5701 ttttgtatgc cataatatat atgatttatg aattatagta atattaataa aagtgttaaa
     5761 gcttt
//
