LOCUS       NM_017566               1924 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant
            1, mRNA.
ACCESSION   NM_017566
VERSION     NM_017566.4
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 1924)
  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   2  (bases 1 to 1924)
  AUTHORS   Lian,Y.F., Yuan,J., Cui,Q., Feng,Q.S., Xu,M., Bei,J.X., Zeng,Y.X.
            and Feng,L.
  TITLE     Upregulation of KLHDC4 Predicts a Poor Prognosis in Human
            Nasopharyngeal Carcinoma
  JOURNAL   PLoS One 11 (3), e0152820 (2016)
   PUBMED   27030985
  REMARK    GeneRIF: KLHDC4 promotes NPC oncogenesis by suppressing cellular
            apoptosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1924)
  AUTHORS   Weimann,M., Grossmann,A., Woodsmith,J., Ozkan,Z., Birth,P.,
            Meierhofer,D., Benlasfer,N., Valovka,T., Timmermann,B.,
            Wanker,E.E., Sauer,S. and Stelzl,U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   4  (bases 1 to 1924)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   5  (bases 1 to 1924)
  AUTHORS   Holmes,S.E., O'Hearn,E., Rosenblatt,A., Callahan,C., Hwang,H.S.,
            Ingersoll-Ashworth,R.G., Fleisher,A., Stevanin,G., Brice,A.,
            Potter,N.T., Ross,C.A. and Margolis,R.L.
  TITLE     A repeat expansion in the gene encoding junctophilin-3 is
            associated with Huntington disease-like 2
  JOURNAL   Nat Genet 29 (4), 377-378 (2001)
   PUBMED   11694876
  REMARK    Erratum:[Nat Genet 2002 Jan;30(1):123]
REFERENCE   6  (bases 1 to 1924)
  AUTHORS   Anderson,D.G., Krause,A. and Margolis,R.L.
  TITLE     Huntington Disease-Like 2
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301701
REFERENCE   7  (bases 1 to 1924)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP215584.1 and BC022969.1.
            
            On Nov 22, 2018 this sequence version replaced NM_017566.3.
            
            Transcript Variant: Transcript Variant: This variant (1) represents
            the longest transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022969.1, AK023986.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270583.10/ ENSP00000270583.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                BP215584.1         7-56
            51-1924             BC022969.1         1-1874
FEATURES             Location/Qualifiers
     source          1..1924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     gene            1..1924
                     /gene="KLHDC4"
                     /note="kelch domain containing 4"
                     /db_xref="GeneID:54758"
                     /db_xref="HGNC:HGNC:25272"
                     /db_xref="MIM:620518"
     exon            1..195
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1659
                     /gene="KLHDC4"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="kelch domain-containing protein 4 isoform 1"
                     /protein_id="NP_060036.2"
                     /db_xref="CCDS:CCDS10963.1"
                     /db_xref="GeneID:54758"
                     /db_xref="HGNC:HGNC:25272"
                     /db_xref="MIM:620518"
                     /translation="MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEEEDLEALIAHFQ
                     TLDAKRTQTVELPCPPPSPRLNASLSVHPEKDELILFGGEYFNGQKTFLYNELYVYNT
                     RKDTWTKVDIPSPPPRRCAHQAVVVPQGGGQLWVFGGEFASPNGEQFYHYKDLWVLHL
                     ATKTWEQVKSTGGPSGRSGHRMVAWKRQLILFGGFHESTRDYIYYNDVYAFNLDTFTW
                     SKLSPSGTGPTPRSGCQMSVTPQGGIVVYGGYSKQRVKKDVDKGTRHSDMFLLKPEDG
                     REDKWVWTRMNPSGVKPTPRSGFSVAMAPNHQTLFFGGVCDEEEEESLSGEFFNDLYF
                     YDATRNRWFEGQLKGPKSEKKKRRRGRKEEPEGGSRPACGGAGTQGPVQLVKEVVAED
                     GTVVTIKQVLTAPGSAGQPRSEDEDSLEEAGSPAPGPCPRSNAMLAVKHGVLYVYGGM
                     FEAGDRQVTLSDLHCLDLHRMEAWKALVEMDPETQEWLEETDSEEDSEEVEGAEGGVD
                     DEDSGEESGAED"
     exon            196..287
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            288..366
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            367..465
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            466..602
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            603..695
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            696..855
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            856..931
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1140
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1543
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1660
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1924
                     /gene="KLHDC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1902..1907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHDC4"
                     /note="hexamer: AATAAA"
     polyA_site      1924
                     /gene="KLHDC4"
                     /note="major polyA site"
ORIGIN      
        1 gtgcgccgag ctccgcccca cgagcacctg tttccgagcg gagagcgcgg gccgttttct
       61 ttcctggtgt cccgtcgcgg cttgggaccc ggcaagatgg gcaagaaggg caagaaggag
      121 aagaagggcc gcggcgcgga gaagacggcc gccaagatgg agaagaaggt gtctaagcgc
      181 tcgcggaagg aggaggaaga cctggaagcg ctcatagccc atttccagac actcgatgcc
      241 aagaggactc agactgtgga acttccgtgc cccccaccct caccaaggtt aaatgcctcc
      301 ctctcggttc atcctgagaa agatgagtta atcctttttg gaggtgaata tttcaacggc
      361 caaaaaactt ttttgtataa cgagctctat gtctacaata ccagaaagga cacctggacc
      421 aaagttgaca tccccagtcc acctccgagg cgctgtgctc accaggcggt ggtagtgcct
      481 caaggtggcg gacagctgtg ggtctttgga ggggagtttg cctctcccaa cggagagcag
      541 ttctaccact acaaggatct ctgggtcctg catttggcca ccaagacctg ggaacaagtc
      601 aaatcaacag gcggtccttc gggtcggagt ggacatcgga tggtggcctg gaagagacaa
      661 ttgatcctgt ttggtggctt ccatgaaagt acacgggatt acatctacta caacgacgtg
      721 tatgccttta atctggacac cttcacatgg agcaagctgt ccccgtcagg gacggggccc
      781 acacccagat caggctgcca gatgtccgtc actccccagg gcggcatcgt cgtctatggg
      841 ggctactcga aacagagagt taagaaagac gtggacaagg gcacacggca ctcagacatg
      901 ttcctgctga agccagagga cggaagagaa gacaagtggg tttggactcg gatgaaccct
      961 tcgggggtca agcccacccc acggtctggc ttttccgtgg ccatggcccc gaatcaccag
     1021 acactgttct tcgggggtgt ctgtgacgag gaagaggagg agagcctgtc gggcgagttc
     1081 ttcaacgatc tgtacttcta cgacgccacc aggaaccgtt ggtttgaggg acagctgaag
     1141 ggacccaagt ctgaaaagaa gaaacgcagg cggggcagaa aagaggagcc cgaaggtggt
     1201 agcaggccgg cgtgtggggg agctggcacc caggggcctg tgcagctggt caaggaggtg
     1261 gtggccgagg atggcaccgt ggtcaccatt aagcaggtgc tcaccgcgcc aggctcggcg
     1321 gggcagcccc ggtctgagga cgaagacagc cttgaggagg ccggcagccc cgcacctggg
     1381 ccgtgtccac gctccaacgc catgctggct gtgaagcatg gggtgctcta cgtctatggg
     1441 ggcatgtttg aggccggcga ccgccaggtc accctcagcg acctgcactg cctggacctg
     1501 cacaggatgg aggcgtggaa ggccttggtg gagatggacc cagaaactca ggagtggctg
     1561 gaggagacgg actcggaaga ggacagtgag gaggttgagg gcgccgaggg tggggtcgac
     1621 gacgaagaca gcggagagga gagcggtgcg gaggactgag aagagcccct gccaggggcg
     1681 cctggcaagt gctgtgccca cgtccgccca ggacccagcc gtgttgagtg aagctcttgg
     1741 ggccagcgtg cgtcctgacg cacaggagag agctgaaggt gggtggccca ggccagggtg
     1801 tgaactttct cccatggttt agtctctgac gcggcactgg gccggaagtt caactgagtg
     1861 cagtgcaggt ggattccctc agcagcctgt gtgttgtgtg aaataaattg gacttgaaac
     1921 aaga
//
