LOCUS       NM_021633               3311 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens kelch like family member 12 (KLHL12), transcript
            variant 2, mRNA.
ACCESSION   NM_021633
VERSION     NM_021633.4
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 3311)
  AUTHORS   Lee,K.T., Pranoto,I.K.A., Kim,S.Y., Choi,H.J., To,N.B., Chae,H.,
            Lee,J.Y., Kim,J.E., Kwon,Y.V. and Nam,J.W.
  TITLE     Comparative interactome analysis of alpha-arrestin families in
            human and Drosophila
  JOURNAL   Elife 12, 88328 (2024)
   PUBMED   38270169
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3311)
  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 3311)
  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 3311)
  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 3311)
  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   6  (bases 1 to 3311)
  AUTHORS   Rondou,P., Haegeman,G., Vanhoenacker,P. and Van Craenenbroeck,K.
  TITLE     BTB Protein KLHL12 targets the dopamine D4 receptor for
            ubiquitination by a Cul3-based E3 ligase
  JOURNAL   J Biol Chem 283 (17), 11083-11096 (2008)
   PUBMED   18303015
  REMARK    GeneRIF: KLHL12 specifically interacts with the D4 polymorphism,
            thereby building up a Cul3-E3 ligase complex with substrate
            specificity toward the D4 receptor
REFERENCE   7  (bases 1 to 3311)
  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   8  (bases 1 to 3311)
  AUTHORS   Angers,S., Thorpe,C.J., Biechele,T.L., Goldenberg,S.J., Zheng,N.,
            MacCoss,M.J. and Moon,R.T.
  TITLE     The KLHL12-Cullin-3 ubiquitin ligase negatively regulates the
            Wnt-beta-catenin pathway by targeting Dishevelled for degradation
  JOURNAL   Nat Cell Biol 8 (4), 348-357 (2006)
   PUBMED   16547521
REFERENCE   9  (bases 1 to 3311)
  AUTHORS   Uchida,K., Akita,Y., Matsuo,K., Fujiwara,S., Nakagawa,A.,
            Kazaoka,Y., Hachiya,H., Naganawa,Y., Oh-Iwa,I., Ohura,K., Saga,S.,
            Kawai,T., Matsumoto,Y., Shimozato,K. and Kozaki,K.
  TITLE     Identification of specific autoantigens in Sjogren's syndrome by
            SEREX
  JOURNAL   Immunology 116 (1), 53-63 (2005)
   PUBMED   16108817
REFERENCE   10 (bases 1 to 3311)
  AUTHORS   Mai,A., Jung,S.K. and Yonehara,S.
  TITLE     hDKIR, a human homologue of the Drosophila kelch protein, involved
            in a ring-like structure
  JOURNAL   Exp Cell Res 300 (1), 72-83 (2004)
   PUBMED   15383316
  REMARK    GeneRIF: molecular cloning and characterization of a novel gene,
            encoded a human kelch protein containing 568 amino acid residues,
            termed hDKIR.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK027656.1, AK301791.1 and
            AK024412.1.
            
            On Nov 22, 2018 this sequence version replaced NM_021633.3.
            
            Summary: This gene encodes a member of the KLHL (Kelch-like) family
            of proteins. This protein has been identified as an autoantigen in
            the autoimmune disease Sjogren's syndrome and as a potential
            biomarker in primary biliary cirrhosis. This protein may act as a
            substrate adaptor of the Cullin-3 ubiquitin ligase complex to
            promote substrate-specific ubiquitylation. Ubiquitylation by this
            complex has been shown to regulate the Wnt signaling pathway as
            well as COPII vesicle coat size. A pseudogene has been identified
            on chromosome 22. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (2) uses an alternate 5' terminal
            exon, resulting in a distinct 5' UTR and an in-frame downstream
            translational start site, compared to variant 1. This results in
            isoform 2, which has a shorter N-terminus compared to isoform 1.
            
            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 :: SRR1803612.144196.1, AK027656.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367261.8/ ENSP00000356230.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-475               AK027656.1         10-484
            476-476             AK301791.1         449-449
            477-1420            AK027656.1         486-1429
            1421-1421           AK301791.1         1394-1394
            1422-1955           AK027656.1         1431-1964
            1956-1956           AK301791.1         1929-1929
            1957-2216           AK027656.1         1966-2225
            2217-2217           AK024412.1         1159-1159
            2218-3311           AK027656.1         2227-3320
FEATURES             Location/Qualifiers
     source          1..3311
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..3311
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /note="kelch like family member 12"
                     /db_xref="GeneID:59349"
                     /db_xref="HGNC:HGNC:19360"
                     /db_xref="MIM:614522"
     exon            1..146
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            147..386
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..1898
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /note="isoform 2 is encoded by transcript variant 2;
                     kelch-like protein C3IP1; CUL3-interacting protein 1; DKIR
                     homolog"
                     /codon_start=1
                     /product="kelch-like protein 12 isoform 2"
                     /protein_id="NP_067646.1"
                     /db_xref="CCDS:CCDS1429.1"
                     /db_xref="GeneID:59349"
                     /db_xref="HGNC:HGNC:19360"
                     /db_xref="MIM:614522"
                     /translation="MGGIMAPKDIMTNTHAKSILNSMNSLRKSNTLCDVTLRVEQKDF
                     PAHRIVLAACSDYFCAMFTSELSEKGKPYVDIQGLTASTMEILLDFVYTETVHVTVEN
                     VQELLPAACLLQLKGVKQACCEFLESQLDPSNCLGIRDFAETHNCVDLMQAAEVFSQK
                     HFPEVVQHEEFILLSQGEVEKLIKCDEIQVDSEEPVFEAVINWVKHAKKEREESLPNL
                     LQYVRMPLLTPRYITDVIDAEPFIRCSLQCRDLVDEAKKFHLRPELRSQMQGPRTRAR
                     LGANEVLLVVGGFGSQQSPIDVVEKYDPKTQEWSFLPSITRKRRYVASVSLHDRIYVI
                     GGYDGRSRLSSVECLDYTADEDGVWYSVAPMNVRRGLAGATTLGDMIYVSGGFDGSRR
                     HTSMERYDPNIDQWSMLGDMQTAREGAGLVVASGVIYCLGGYDGLNILNSVEKYDPHT
                     GHWTNVTPMATKRSGAGVALLNDHIYVVGGFDGTAHLSSVEAYNIRTDSWTTVTSMTT
                     PRCYVGATVLRGRLYAIAGYDGNSLLSSIECYDPIIDSWEVVTSMGTQRCDAGVCVLR
                     EK"
     exon            387..540
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            541..758
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            759..908
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1023
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1130
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1326
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1485
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            1486..1584
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1771
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..3311
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3290..3295
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /note="hexamer: ATTAAA"
     polyA_site      3311
                     /gene="KLHL12"
                     /gene_synonym="C3IP1; DKIR"
                     /note="major polyA site"
ORIGIN      
        1 agacccggac ggctccagag cctccagagc ctccgggtct gggcggcgct tcggctcctc
       61 ccgagccgcc tgctagcccc gcgccgcact ccatccccac aggctgggga cgggcccggt
      121 gcggctgtgt gggttcggga gcggagttgc agaatccaag gacccatttt gttctttctc
      181 cgcactgctt tatgggaggc attatggccc ccaaagacat aatgacaaat actcatgcta
      241 aatccatcct caattcaatg aactccctca ggaagagcaa taccctctgt gatgtgacat
      301 tgagagtaga gcagaaagac ttccctgccc atcggattgt gctggctgcc tgtagtgatt
      361 acttctgtgc catgttcact agtgagctct cagagaaggg gaaaccttat gttgacatcc
      421 aaggtttgac tgcctctacc atggaaattt tattggactt tgtgtacaca gaaacagtac
      481 atgtgacagt ggagaatgta caagaactgc ttcctgcagc ctgtctgctt cagttgaaag
      541 gtgtgaaaca agcctgctgt gagttcttag aaagtcagtt ggacccttct aattgcctgg
      601 gtattaggga ttttgctgaa acccacaatt gtgttgacct gatgcaagca gctgaggttt
      661 ttagccagaa gcattttcct gaagtggtac agcatgaaga gttcattctt ctgagtcaag
      721 gagaggtgga aaagctaatc aagtgcgacg aaattcaggt ggattctgaa gagccagtct
      781 ttgaggctgt catcaactgg gtgaagcatg ccaagaaaga gcgggaagaa tccttgccta
      841 acctgctaca gtatgtgcgg atgcccctac taacccccag gtatatcaca gatgtaatag
      901 atgctgagcc tttcatccgc tgtagtttac aatgcaggga tctggttgat gaagcaaaga
      961 agtttcatct gaggcctgaa cttcggagtc agatgcaggg acccaggaca agggctcgcc
     1021 taggagccaa tgaagtgctt ttggtggttg ggggctttgg aagccagcag tctcccattg
     1081 atgtggtaga gaaatatgac cccaagactc aggagtggag ctttttgcca agcatcactc
     1141 gtaagagacg ttatgtggcc tcagtgtccc ttcatgaccg gatctacgtc attggtggct
     1201 atgatggccg ttcccgcctt agttcagtgg aatgtctaga ctacacagca gatgaggatg
     1261 gggtctggta ttctgtggcc cctatgaatg tccgacgagg tcttgctgga gccaccaccc
     1321 tgggagatat gatctatgtc tctggaggct ttgatggaag caggcgtcac accagtatgg
     1381 agcgctatga tccaaacatt gaccagtgga gcatgctggg agatatgcag acagcccggg
     1441 aaggtgccgg actcgtagtg gccagtggag tgatctactg tctaggagga tatgacggct
     1501 tgaatatctt aaattcagtt gagaaatacg accctcatac aggacattgg actaatgtta
     1561 caccaatggc caccaagcgt tctggtgcag gagtagccct gctgaatgac catatttatg
     1621 tggtgggggg atttgatggt acagcccacc tttcttccgt tgaagcatac aacattcgca
     1681 ctgattcctg gacaactgtc accagtatga ccactccacg atgctatgta ggggccacag
     1741 tgcttcgggg gagactctat gcaattgcag gatatgatgg taattccctg ctaagtagca
     1801 ttgaatgtta tgaccctatc atcgacagct gggaagtcgt gacatccatg ggaacccagc
     1861 gctgtgatgc tggtgtttgt gttctccgcg agaagtgacc attgttggag caccatccag
     1921 agctagtgac cagtccagtg gacagttagt gggagaatca aaaatccttt ccagaatgtc
     1981 tgtttctcac tatgtgcacc gggtgattac aggcaccagt gcagtgatga ttgtacttat
     2041 ttgacacata ctccccgtcg tcctggttct tgttcctgag aagggtgggt aacagatatt
     2101 ccaggaaaaa gaatgcacat tgaatggatg tgagagacca cattgcctct cccactgctt
     2161 tggggagcac tttcctgtca tttctaactt accacatgct tggtgtacta tatgtatgtt
     2221 gtgcctcata tgttgcaaag aactaaggtg agtatagcct actagatatg ggcaatatcc
     2281 agcctagatg attggaaaga taccagttta agtaaacttg gtaaaatcca agtctttttt
     2341 tttttttcca ggaacaacta cattttctca tatacaggta gctaggggca acacagttcc
     2401 attctagagg gaaacaaaag ggagagcccc acaaaacttt ggggacaagg gagagagaga
     2461 ctcatctgac acttcttttg gaggtcagga tttgtatatc agaattgaag ttagaattaa
     2521 gtgaattaaa ctgaatttga ttgtgagtga acctagaaca gcactgaagt attacataac
     2581 ctggaagact gagaagggta tattatttga aggatctttt tatttccccg aggtctttcg
     2641 cactggagac agcataaaag agtgaacaaa tgttgggatg agagaagatg acatcaatgt
     2701 gggagttcag tataactggg gataaactag aagaacctgt gattttacag tcatcttatt
     2761 acctgccagg gctcatctag ccatggcaat gtttgccttg aatgggggtg aaagcctttc
     2821 tttgttggat caaatactac tacactatta cacttccaca ctatttattt ggggatgggc
     2881 tgggagtgac agtagcctag tagttcagct acctgattac tgccccattc ttttagaagc
     2941 acatgtctgc caaggagtgg tttgtactgc tgtgtttggt acatctagtc ttttttctgc
     3001 tataagtttt ccttacctgt cctttagtgt agattttatt catcacagga cagaataatc
     3061 aaggacaacc aaaatccttt tgttagtttc agtacctcag ctatcaacat ttctgagcta
     3121 ccattcaatg ttcctctgtg tcatggagtg aaattcttgt tttgtgggta ttaggagtgt
     3181 gggaatgtga taacctaaac aacctttgct ctgaaattcc atttttccct ctttccctga
     3241 gttgtattga cctacagagt taatttcctt tgtatttttt taagaaaata ttaaaaatca
     3301 acggtctcaa a
//
