LOCUS       NP_001161774             639 aa            linear   PRI 30-APR-2025
DEFINITION  kelch-like protein 13 isoform d [Homo sapiens].
ACCESSION   NP_001161774
VERSION     NP_001161774.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 639)
  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  (residues 1 to 639)
  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  (residues 1 to 639)
  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  (residues 1 to 639)
  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  (residues 1 to 639)
  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  (residues 1 to 639)
  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  (residues 1 to 639)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..639
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     Protein         1..639
                     /product="kelch-like protein 13 isoform d"
                     /note="BTB and kelch domain containing 2; kelch-like 13"
                     /calculated_mol_wt=72010
     Region          53..180
                     /region_name="BTB_POZ_KLHL9_13"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch-like
                     proteins KLHL9 and KLHL13; cd18239"
                     /db_xref="CDD:349548"
     Region          76..619
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          363..411
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          415..459
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          462..507
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          509..558
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          561..608
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     CDS             1..639
                     /gene="KLHL13"
                     /gene_synonym="BKLHD2"
                     /coded_by="NM_001168302.2:328..2247"
                     /note="isoform d is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS55481.1"
                     /db_xref="GeneID:90293"
                     /db_xref="HGNC:HGNC:22931"
                     /db_xref="MIM:300655"
ORIGIN      
        1 mdhlhrgelv aailrnrslv eeedqhmkls lggsemglss hlqsskagpt riftsnthss
       61 vvlqgfdqlr legllcdvtl mpgdtddafp vhrvmmasas dyfkamftgg mkeqdlmcik
      121 lhgvskvglr kiidfiytak lslnmdnlqd tleaasflqi lpvldfckvf lisgvtldnc
      181 vevgrianty nltevdkyvn sfvlknfpal lstgeflklp ferlafvlss nslkhctele
      241 lfkatcrwlr leeprmdfaa klmknirfpl mtpqelinyv qtvdfmrtdn tcvnllleas
      301 nyqmmpymqp vmqsdrtair sdtthlvtlg gvlrqqlvvs kelrmydeka hewkslapmd
      361 apryqhgiav ignflyvvgg qsnydtkgkt avdtvfrfdp rynkwmqvas lnekrtffhl
      421 salkgylyav ggrnaagelp tvecynprtn ewtyvakmse phyghagtvy ggvmyisggi
      481 thdtfqkelm cfdpdtdkwi qkapmttvrg lhcmctvger lyviggnhfr gtsdyddvls
      541 ceyyspildq wtpiaamlrg qsdvgvavfe nkiyvvggys wnnrcmveiv qkydpdkdew
      601 hkvfdlpesl ggiractltv fppeettpsp sresplsap
//
