LOCUS       NM_014458               3414 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens kelch like family member 20 (KLHL20), mRNA.
ACCESSION   NM_014458
VERSION     NM_014458.4
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 3414)
  AUTHORS   Sleyp,Y., Valenzuela,I., Accogli,A., Ballon,K., Ben-Zeev,B.,
            Berkovic,S.F., Broly,M., Callaerts,P., Caylor,R.C., Charles,P.,
            Chatron,N., Cohen,L., Coppola,A., Cordeiro,D., Cuccurullo,C.,
            Cusco,I., Janette,di.Monda., Duran-Romana,R., Ekhilevitch,N.,
            Fernandez-Alvarez,P., Gordon,C.T., Isidor,B., Keren,B., Lesca,G.,
            Maljaars,J., Mercimek-Andrews,S., Morrow,M.M., Muir,A.M.,
            Rousseau,F., Salpietro,V., Scheffer,I.E., Schnur,R.E.,
            Schymkowitz,J., Souche,E., Steyaert,J., Stolerman,E.S.,
            Vengoechea,J., Ville,D., Washington,C., Weiss,K., Zaid,R.,
            Sadleir,L.G., Mefford,H.C. and Peeters,H.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20
            cause a developmental disorder with intellectual disability,
            epilepsy, and autism spectrum disorder
  JOURNAL   Genet Med 24 (12), 2464-2474 (2022)
   PUBMED   36214804
  REMARK    GeneRIF: De novo missense variants in the E3 ubiquitin ligase
            adaptor KLHL20 cause a developmental disorder with intellectual
            disability, epilepsy, and autism spectrum disorder.
REFERENCE   2  (bases 1 to 3414)
  AUTHORS   Swaney,D.L., Ramms,D.J., Wang,Z., Park,J., Goto,Y., Soucheray,M.,
            Bhola,N., Kim,K., Zheng,F., Zeng,Y., McGregor,M., Herrington,K.A.,
            O'Keefe,R., Jin,N., VanLandingham,N.K., Foussard,H., Von Dollen,J.,
            Bouhaddou,M., Jimenez-Morales,D., Obernier,K., Kreisberg,J.F.,
            Kim,M., Johnson,D.E., Jura,N., Grandis,J.R., Gutkind,J.S.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein network map of head and neck cancer reveals PIK3CA mutant
            drug sensitivity
  JOURNAL   Science 374 (6563), eabf2911 (2021)
   PUBMED   34591642
REFERENCE   3  (bases 1 to 3414)
  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   4  (bases 1 to 3414)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3414)
  AUTHORS   Chen,Z., Picaud,S., Filippakopoulos,P., D'Angiolella,V. and
            Bullock,A.N.
  TITLE     Structural Basis for Recruitment of DAPK1 to the KLHL20 E3 Ligase
  JOURNAL   Structure 27 (9), 1395-1404 (2019)
   PUBMED   31279627
  REMARK    GeneRIF: A 1.1-A degrees crystal structure of a KLHL20-DAPK1
            complex reveals a hydrophobic pocket in KLHL20. DAPK1 helical turn
            inserts into the beta-propeller to contact all six Kelch repeats of
            KLHL20.
REFERENCE   6  (bases 1 to 3414)
  AUTHORS   Nacak,T.G., Alajati,A., Leptien,K., Fulda,C., Weber,H., Miki,T.,
            Czepluch,F.S., Waltenberger,J., Wieland,T., Augustin,H.G. and
            Kroll,J.
  TITLE     The BTB-Kelch protein KLEIP controls endothelial migration and
            sprouting angiogenesis
  JOURNAL   Circ Res 100 (8), 1155-1163 (2007)
   PUBMED   17395875
  REMARK    GeneRIF: BTB-kelch protein KLEIP, a novel regulator of endothelial
            function during angiogenesis, controls the vascular endothelial
            growth factor (VEGF)-induced activation of Rho GTPases.
REFERENCE   7  (bases 1 to 3414)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 3414)
  AUTHORS   Hara,T., Ishida,H., Raziuddin,R., Dorkhom,S., Kamijo,K. and Miki,T.
  TITLE     Novel kelch-like protein, KLEIP, is involved in actin assembly at
            cell-cell contact sites of Madin-Darby canine kidney cells
  JOURNAL   Mol Biol Cell 15 (3), 1172-1184 (2004)
   PUBMED   14668487
REFERENCE   9  (bases 1 to 3414)
  AUTHORS   Shin,B.K., Wang,H., Yim,A.M., Le Naour,F., Brichory,F., Jang,J.H.,
            Zhao,R., Puravs,E., Tra,J., Michael,C.W., Misek,D.E. and
            Hanash,S.M.
  TITLE     Global profiling of the cell surface proteome of cancer cells
            uncovers an abundance of proteins with chaperone function
  JOURNAL   J Biol Chem 278 (9), 7607-7616 (2003)
   PUBMED   12493773
REFERENCE   10 (bases 1 to 3414)
  AUTHORS   Adams,J., Kelso,R. and Cooley,L.
  TITLE     The kelch repeat superfamily of proteins: propellers of cell
            function
  JOURNAL   Trends Cell Biol 10 (1), 17-24 (2000)
   PUBMED   10603472
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB143306.1, AB026190.1 and
            BC063418.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014458.3.
            
            Summary: The protein encoded by this gene is a member of the kelch
            family of proteins, which is characterized by a 44-56 amino acid
            repeat motif. The kelch motif appears in many different polypeptide
            contexts and contains multiple potential protein-protein contact
            sites. Members of this family are present both throughout the cell
            and extracellularly, with diverse activities. [provided by RefSeq,
            Jul 2008].
            
            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 :: SRR1660809.43618.1,
                                           SRR1660803.104669.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000209884.5/ ENSP00000209884.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                CB143306.1         43-68
            27-1915             AB026190.1         8-1896
            1916-2469           BC063418.1         1886-2439
            2470-3414           BC063418.1         2441-3385
FEATURES             Location/Qualifiers
     source          1..3414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     gene            1..3414
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /note="kelch like family member 20"
                     /db_xref="GeneID:27252"
                     /db_xref="HGNC:HGNC:25056"
                     /db_xref="MIM:617679"
     exon            1..98
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            99..162
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..1969
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /note="Kelch motif containing protein; kelch-like protein
                     X; kelch-like ECT2-interacting protein"
                     /codon_start=1
                     /product="kelch-like protein 20"
                     /protein_id="NP_055273.2"
                     /db_xref="CCDS:CCDS1310.1"
                     /db_xref="GeneID:27252"
                     /db_xref="HGNC:HGNC:25056"
                     /db_xref="MIM:617679"
                     /translation="MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMP
                     YISDKHPRQTLEVINLLRKHRELCDVVLVVGAKKIYAHRVILSACSPYFRAMFTGELA
                     ESRQTEVVIRDIDERAMELLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEF
                     LKRQLDPSNCLGIRAFADTHSCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDII
                     SSDELNVRSEEQVFNAVMAWVKYSIQERRPQLPQVLQHVRLPLLSPKFLVGTVGSDPL
                     IKSDEECRDLVDEAKNYLLLPQERPLMQGPRTRPRKPIRCGEVLFAVGGWCSGDAISS
                     VERYDPQTNEWRMVASMSKRRCGVGVSVLDDLLYAVGGHDGSSYLNSVERYDPKTNQW
                     SSDVAPTSTCRTSVGVAVLGGFLYAVGGQDGVSCLNIVERYDPKENKWTRVASMSTRR
                     LGVAVAVLGGFLYAVGGSDGTSPLNTVERYNPQENRWHTIAPMGTRRKHLGCAVYQDM
                     IYAVGGRDDTTELSSAERYNPRTNQWSPVVAMTSRRSGVGLAVVNGQLMAVGGFDGTT
                     YLKTIEVFDPDANTWRLYGGMNYRRLGGGVGVIKMTHCESHIW"
     exon            163..736
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            737..895
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            896..990
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1106
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1290
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1434
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1568
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..1777
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1884
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     exon            1885..3414
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3386..3391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /note="hexamer: AATAAA"
     polyA_site      3414
                     /gene="KLHL20"
                     /gene_synonym="KHLHX; KLEIP; KLHLX"
                     /note="major polyA site"
ORIGIN      
        1 atcctgcctg cgttagcggc ggtggaggag gaggcagaga ggagtggagg gcggagtaga
       61 cggaggaggc tgctgcagag aagaaagtgt cagagccggt tcggctttag agtgtggtga
      121 agggtacttt tcatggtgca tggaaggaaa gccaatgcgc aggtgtacca acattcgacc
      181 aggagagact ggaatggatg taacaagccg ctgcaccctt ggagacccca acaaactgcc
      241 agaaggggtt ccccaacctg cccgcatgcc ctatatctca gacaagcacc ctcgacaaac
      301 cttggaagtg attaaccttc tgagaaagca ccgggagcta tgtgatgtgg tgctagttgt
      361 gggcgccaag aagatatatg cccatcgagt cattttgtca gcctgtagtc cctacttccg
      421 agctatgttt acaggagaat tggcagagag ccgtcagaca gaagtagtga tccgagacat
      481 tgacgagagg gctatggaat tactgattga ctttgcgtat acctcccaga taacagtaga
      541 agagggcaat gttcagactc ttctgccagc tgcttgcctc ctccagctgg cagaaataca
      601 ggaagcctgc tgtgaattct taaagagaca attagatcct tctaactgcc tgggcattcg
      661 ggcttttgct gacacacatt catgtcgtga gttgctaagg atagcagaca agttcaccca
      721 acataacttt caagaggtaa tggagagtga agagttcatg ttgcttccag ccaatcaact
      781 cattgatata atatccagtg atgagctaaa cgttcgcagt gaagaacaag tgttcaatgc
      841 agtgatggcc tgggtcaaat acagtattca ggaaagacgt cctcaattac cccaggtgct
      901 gcagcatgtt cgtttgcctt tgcttagtcc caagttcctg gtcggcacag taggctctga
      961 tcccctcatc aaaagtgatg aagaatgcag agacttggta gatgaggcta aaaactacct
     1021 cctattgccg caagaacgac cactaatgca aggaccaagg acgagaccac ggaaacctat
     1081 ccgatgtggg gaagtactct ttgcagttgg tggttggtgc agtggagatg ccatttccag
     1141 tgttgaacga tatgatccac agaccaatga atggagaatg gtggcttcaa tgagcaaaag
     1201 gagatgcgga gttggggtca gtgttcttga tgatctgtta tatgcagtag gaggccatga
     1261 tggatcctct tatctcaata gtgttgaaag gtatgacccc aaaacaaacc agtggagcag
     1321 tgatgtggcc cctacaagca cctgcaggac aagtgttggt gtagcagtac ttggaggctt
     1381 tctttatgct gtgggtggcc aggatggtgt gtcttgcctc aacattgttg agaggtatga
     1441 tccgaaggag aacaagtgga ctcgggtagc ttctatgagt accagaagac taggtgtggc
     1501 tgtggctgtg ttaggagggt tcttatatgc tgtaggtggc tctgacggga catctcctct
     1561 caacacagtg gaacgttaca atcctcagga aaacagatgg cacactatag cccctatggg
     1621 gacccggagg aaacacctag gctgtgcagt atatcaggac atgatctatg ctgtaggagg
     1681 tagagatgac actacagagc tgagcagtgc tgagagatac aaccccagaa ccaaccagtg
     1741 gtctccagtg gtggccatga catcacgccg tagtggagtt ggcctggcag tggtcaatgg
     1801 acagctcatg gcagtaggag gttttgatgg cacaacatac ttgaagacca tagaagtttt
     1861 tgatcctgat gccaatacat ggaggttata tggcgggatg aattaccgtc ggctaggggg
     1921 tggcgtagga gttattaaaa tgacacattg tgaatcccat atttggtgaa cacagagaag
     1981 acagtcttgt atatattcct ctgtattctg gggagctttg accttggagc tttgtacagc
     2041 ttgagaaaac attagaacaa attttattat ttgccggtgc ctcaacaaat ggaaatacaa
     2101 tccaatgaaa gtacttcacc tgcaagatgc acaataattt tcaactctgt gcagaagaat
     2161 atttattttt ggttttaatt tatcatggtt ttttgttgtt ttcgttttga acttatcctt
     2221 cctcccacaa aaaaagaaaa gaagaaaaaa ttccaagcag caaaacttac tttgtttgta
     2281 aggtattcat ttaggtttga aaatactatt taataagggc agaagggcta tatatgattt
     2341 ggctattatt tctagacact ccatccacat gattccacta acaaggatta ccaggaataa
     2401 aggtaggtat gcaaaatgta ttagctaccc attattctcg cactaaccac cagaagactt
     2461 gaaaatctta aaaaaaaaaa acaaaaaaac aagaaaaggc aacatctcat tttaaatagt
     2521 acaattcaga agggatacta aatcaataaa aaccaggact cagacactac agttttcatc
     2581 agtgtaattt tatgtcttgt ttctttctat atgaacttgt ttatttagtc tttttttcat
     2641 aatattctca tagagtttct gctagatcta gagctctgct cagtgcctct tataaaaaca
     2701 atatataagt ctcatatgct gtcttgagaa tccaagagaa tcacatgcag ctctgcaaca
     2761 gtttttgctc aaaaatgtta ctgactaaag caactgtcct tcctgtttcc ttattgctac
     2821 caaggaccag cagggagaaa tgtcttctcc cagcagtgaa ttctgttatg caatttattc
     2881 ttgatgctca ggcctggtta agctgaggct tacctttaat aacagcctcc aagggaatga
     2941 attattcagt taatgtaata gcacacatta aagagtgtaa aatcaattga ggcattttat
     3001 taatatcttg gttcttttat acaaacaatg tatcattatc ttcattctat aaggtcattg
     3061 ttactacttc tctcaaattg cactttctgg taaaaagtta aaaattttta aggaaaaaat
     3121 aatttcaatg gttaaagttt tttttcctca ttgtattcat agacaaattt ttttcaatat
     3181 attttgcaag aaaaatcttt gaataagact aactgcattt aaaaggaata acctccttct
     3241 ccctttcccc aactacaaaa atgtttggca actttgtgtt tacatttaaa gatcatttgc
     3301 acctttttca aggaaaaaaa gtattgagta aacaattgtt tacatatatc atttatgctt
     3361 ttttctagca tgtataactt ttttaaataa aggtagtatt taccattaaa aaaa
//
