LOCUS       NM_001168302            3342 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens kelch like family member 13 (KLHL13), transcript
            variant 5, mRNA.
ACCESSION   NM_001168302
VERSION     NM_001168302.2
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 3342)
  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   2  (bases 1 to 3342)
  AUTHORS   Mena,E.L., Kjolby,R.A.S., Saxton,R.A., Werner,A., Lew,B.G.,
            Boyle,J.M., Harland,R. and Rape,M.
  TITLE     Dimerization quality control ensures neuronal development and
            survival
  JOURNAL   Science 362 (6411) (2018)
   PUBMED   30190310
REFERENCE   3  (bases 1 to 3342)
  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   4  (bases 1 to 3342)
  AUTHORS   Bennett,E.J., Rush,J., Gygi,S.P. and Harper,J.W.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   5  (bases 1 to 3342)
  AUTHORS   Sumara,I. and Peter,M.
  TITLE     A Cul3-based E3 ligase regulates mitosis and is required to
            maintain the spindle assembly checkpoint in human cells
  JOURNAL   Cell Cycle 6 (24), 3004-3010 (2007)
   PUBMED   18075312
REFERENCE   6  (bases 1 to 3342)
  AUTHORS   Sumara,I., Quadroni,M., Frei,C., Olma,M.H., Sumara,G., Ricci,R. and
            Peter,M.
  TITLE     A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes,
            regulating mitotic progression and completion of cytokinesis in
            human cells
  JOURNAL   Dev Cell 12 (6), 887-900 (2007)
   PUBMED   17543862
REFERENCE   7  (bases 1 to 3342)
  AUTHORS   Furukawa,M., He,Y.J., Borchers,C. and Xiong,Y.
  TITLE     Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin
            ligases
  JOURNAL   Nat Cell Biol 5 (11), 1001-1007 (2003)
   PUBMED   14528312
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB074659.1, DC343916.1,
            AK316509.1 and BC008729.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_001168302.1.
            
            Summary: This gene encodes a BTB and kelch domain containing
            protein and belongs to the kelch repeat domain containing
            superfamily of proteins. The encoded protein functions as an
            adaptor protein that complexes with Cullin 3 and other proteins to
            form the Cullin 3-based E3 ubiquitin-protein ligase complex. This
            complex is necessary for proper chromosome segregation and
            completion of cytokinesis. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and 5'
            coding region, compared to variant 1, resulting in an isoform (d)
            with a distinct and shorter N-terminus, compared to isoform a. Both
            variants 4 and 5 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK316509.1, SRR14038194.3031777.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000540167.6/ ENSP00000441029.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                DB074659.1         56-104
            50-377              DC343916.1         41-368
            378-1884            AK316509.1         393-1899
            1885-3342           BC008729.2         150-1607
FEATURES             Location/Qualifiers
     source          1..3342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..3342
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /note="kelch like family member 13"
                     /db_xref="GeneID:90293"
                     /db_xref="HGNC:HGNC:22931"
                     /db_xref="MIM:300655"
     exon            1..303
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            304..377
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             328..2247
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /note="isoform d is encoded by transcript variant 5; BTB
                     and kelch domain containing 2; kelch-like 13"
                     /codon_start=1
                     /product="kelch-like protein 13 isoform d"
                     /protein_id="NP_001161774.1"
                     /db_xref="CCDS:CCDS55481.1"
                     /db_xref="GeneID:90293"
                     /db_xref="HGNC:HGNC:22931"
                     /db_xref="MIM:300655"
                     /translation="MDHLHRGELVAAILRNRSLVEEEDQHMKLSLGGSEMGLSSHLQS
                     SKAGPTRIFTSNTHSSVVLQGFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDY
                     FKAMFTGGMKEQDLMCIKLHGVSKVGLRKIIDFIYTAKLSLNMDNLQDTLEAASFLQI
                     LPVLDFCKVFLISGVTLDNCVEVGRIANTYNLTEVDKYVNSFVLKNFPALLSTGEFLK
                     LPFERLAFVLSSNSLKHCTELELFKATCRWLRLEEPRMDFAAKLMKNIRFPLMTPQEL
                     INYVQTVDFMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIRSDTTHLVTLGGVLR
                     QQLVVSKELRMYDEKAHEWKSLAPMDAPRYQHGIAVIGNFLYVVGGQSNYDTKGKTAV
                     DTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGYLYAVGGRNAAGELPTVECYNPRTN
                     EWTYVAKMSEPHYGHAGTVYGGVMYISGGITHDTFQKELMCFDPDTDKWIQKAPMTTV
                     RGLHCMCTVGERLYVIGGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRGQSDVGV
                     AVFENKIYVVGGYSWNNRCMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPE
                     ETTPSPSRESPLSAP"
     exon            378..519
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            520..652
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            653..849
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            850..1645
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1759
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1760..3342
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3323..3328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /note="hexamer: AATAAA"
     polyA_site      3342
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /note="major polyA site"
ORIGIN      
        1 acaccctggt gaggtcaggc ggaggctctg ccgctgcggc cgcagtagct cagctcctat
       61 tcctgggaag cctggaacgg ggacttttga aaataactgc agcggcattc gggttagggt
      121 ccgtgctctc cgcctgcgcc aggacagggt gaagtggtcg gggcgagcag agggtgcgaa
      181 ggtgcgggtg ctggtgcctc gcagcaggag ggagccccgg ctgcgccgcg cgactccctc
      241 tttggccctc ggagcgcagc acccggcgga caagcggcgg gacgccagga cgcggcgagc
      301 aaggtcatta tccaactttt agaggtgatg gatcatctgc atagagggga attggttgct
      361 gcaatacttc gtaaccgatc tctcgtggaa gaggaagacc aacacatgaa attgtccctt
      421 ggaggcagcg aaatgggcct ctcatcccat ttgcagtctt ccaaggcagg acctacacgc
      481 atctttacca gcaataccca cagttctgtg gtgttacagg gctttgacca gcttcgactt
      541 gaaggattgc tttgtgatgt gaccctgatg ccaggtgaca cagatgatgc tttccctgtg
      601 catagagtca tgatggcatc tgctagtgat tacttcaagg ctatgttcac aggtggaatg
      661 aaagaacaag atttaatgtg cattaaactt catggtgtga gcaaagtcgg tctaaggaaa
      721 attattgatt tcatttatac tgcaaagctt tctcttaata tggacaacct tcaagacacg
      781 ctggaagctg ccagtttcct acagattctg ccagttttgg acttctgtaa agtgtttctc
      841 atatctgggg tcactttaga caactgtgtt gaagttggac ggattgccaa cacctacaat
      901 ctaaccgaag tggataaata cgttaacagt ttcgtcttga agaattttcc tgcattgctg
      961 agcacagggg agttcttgaa actccctttt gagcgtcttg ccttcgtgct ttccagtaat
     1021 agccttaagc actgtactga acttgagctc tttaaggcta cctgtcgttg gcttcgcctg
     1081 gaagagcctc ggatggactt tgctgcaaaa ttaatgaaga acatacgatt tccactgatg
     1141 acaccacagg agctcattaa ttacgtgcaa acggtggatt tcatgagaac tgacaatact
     1201 tgtgtgaatt tgcttttgga agccagcaat taccaaatga tgccatatat gcagccagtt
     1261 atgcagtcag acaggactgc cattaggtct gacaccactc acttggttac actaggagga
     1321 gtgctgaggc agcagctggt tgtcagtaag gaattgcgca tgtatgatga aaaggcccat
     1381 gagtggaaat cgttagcccc catggatgcc ccaaggtacc agcatggcat cgccgtcatt
     1441 ggaaattttc tctatgtggt tggcggacag agtaattatg atacaaaagg aaaaacggca
     1501 gttgatacag tcttcagatt tgatcctcga tacaataaat ggatgcaagt tgcatcttta
     1561 aatgaaaagc gcaccttctt ccacctaagt gccctcaaag gatatctgta tgcagttggt
     1621 gggcgaaatg cagcaggtga actgcccaca gtagaatgtt acaatccaag aacaaatgaa
     1681 tggacctatg ttgccaaaat gagtgagccc cactatggcc atgctggaac tgtgtatgga
     1741 ggagtgatgt atatttcagg aggaattact catgatactt tccaaaagga gctcatgtgc
     1801 tttgaccctg atactgacaa atggatccag aaggcgccaa tgaccactgt cagaggtctg
     1861 cattgcatgt gtacagtggg agaaaggctc tatgtcattg gtggcaatca cttcagagga
     1921 acaagtgatt atgatgatgt cctaagctgt gaatactatt cacctatcct tgaccagtgg
     1981 accccaattg ctgccatgtt aagagggcag agtgatgttg gggtcgctgt cttcgaaaat
     2041 aaaatctatg tggttggggg gtattcttgg aataatcgtt gtatggtaga gatagtgcag
     2101 aaatatgatc cagataaaga tgaatggcat aaggtttttg atctgccaga atcccttggt
     2161 ggcattcgtg cttgcacact cacagttttt ccaccagaag aaaccacacc atcaccttct
     2221 agagagtccc ctctttctgc accttaagat catctctaca actaagatgc tgtagttcta
     2281 tctttgcaat gtgtcataaa ttctcttctt tttccccctt aagtagtata tatgttagga
     2341 ttaccctctg gtaattgata cagatattgg aaaaaagaca acattgatgt tatttgtgct
     2401 ctttgtttgg cctagaatgt ttataaagtg gtaacacaac cattctggaa atgtatccca
     2461 tagaagctga tgtttaacat atgaaaaaaa aagtattgtc tataaaatgt ttcttcagta
     2521 ctttttaaat gctgtgtatt gggtgtaagg tatttgtcat cttacattag taaacccaat
     2581 aagccaagtt gaaggtggat tatagtaaat gtacaactgt gctcactagg cttcaagtaa
     2641 aaagttttcc tttcatcttt gactgtaaga tgtcaaaggg aggcagcctg cttgaacagg
     2701 aaacaataca caaaaggttg ccaactcgca tgagctacct ccctcttttc ataaagtatt
     2761 tttgacatat ctgtcaaccc acttgactgt gtgggtgcat tgagaacaca aagtttccta
     2821 gacacacagg agaagtagct taaattcact aatattaatt taaaaagcag catgaaccct
     2881 ctacttataa acaagggttt ggtgttttta aagtgtgtat acatacatac acatacacac
     2941 atgcacatat gtcaaatata atttttttaa aaattgagtg gcacatcaaa gaaatgtgaa
     3001 attaaaaaga attcttccaa aaagcagctt ccattaaaat gggaattcag tatgcacata
     3061 ctgaatgcat atatgtagaa ccatacagaa tttaggtgga taagggctag aaattttgag
     3121 caacaaaatt tgtcacttga ccagatttta tcttcaaaaa ctgtattcta ctccttctcc
     3181 tttgctgttg aggtaacttg catattatat gtattctgta tactcagttc ataaggttat
     3241 ttagcacaaa gtatagcagc ttcacctgga gagctgcttt tgctcagtaa attcaacttc
     3301 catgttttat ctttttttgt tcaataaaaa catttaatgt ca
//
