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2024-04-19 11:08:16, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001184856            1851 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant
            2, mRNA.
ACCESSION   NM_001184856
VERSION     NM_001184856.1  GI:296434228
KEYWORDS    RefSeq.
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 1851)
  AUTHORS   Suzuki,Y., Yamashita,R., Shirota,M., Sakakibara,Y., Chiba,J.,
            Mizushima-Sugano,J., Nakai,K. and Sugano,S.
  TITLE     Sequence comparison of human and mouse genes reveals a homologous
            block structure in the promoter regions
  JOURNAL   Genome Res. 14 (9), 1711-1718 (2004)
   PUBMED   15342556
REFERENCE   2  (bases 1 to 1851)
  AUTHORS   Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
            Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
            Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
            Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
            Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
            Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
            Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
            Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
            Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
            McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
            Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
            Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
            Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
            Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
            Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
            Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
            Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
            Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
   PUBMED   12477932
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP215584.1 and BC011680.2.
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region compared to variant 1. The resulting protein (isoform 2) is
            shorter but has the same N- and C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC011680.2 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-407               BP215584.1         1-407
            408-1851            BC011680.2         392-1835
FEATURES             Location/Qualifiers
     source          1..1851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..1851
                     /gene="KLHDC4"
                     /note="kelch domain containing 4"
                     /db_xref="GeneID:54758"
                     /db_xref="HGNC:25272"
     exon            1..201
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     CDS             103..1572
                     /gene="KLHDC4"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="kelch domain-containing protein 4 isoform 2"
                     /protein_id="NP_001171785.1"
                     /db_xref="GI:296434229"
                     /db_xref="CCDS:CCDS54051.1"
                     /db_xref="GeneID:54758"
                     /db_xref="HGNC:25272"
                     /translation="
MGKKGKKEKKGRGAEKTAAKMEKKVSKRSRKEEEDLEALIAHFQTLDAKRTQTVELPCPPPSPRLNASLSVHPEKDELILFGGEYFNGQKTFLYNELYVYNTRKDTWTKVDIPSPPPRRCAHQAVVVPQGGGQLWVFGGEFASPNGEQFYHYKDLWVLHLATKTWEQVKDYIYYNDVYAFNLDTFTWSKLSPSGTGPTPRSGCQMSVTPQGGIVVYGGYSKQRVKKDVDKGTRHSDMFLLKPEDGREDKWVWTRMNPSGVKPTPRSGFSVAMAPNHQTLFFGGVCDEEEEESLSGEFFNDLYFYDATRNRWFEGQLKGPKSEKKKRRRGRKEEPEGGSRPACGGAGTQGPVQLVKEVVAEDGTVVTIKQVLTAPGSAGQPRSEDEDSLEEAGSPAPGPCPRSNAMLAVKHGVLYVYGGMFEAGDRQVTLSDLHCLDLHRMEAWKALVEMDPETQEWLEETDSEEDSEEVEGAEGGVDDEDSGEESGAED
"
     misc_feature    325..483
                     /gene="KLHDC4"
                     /note="Galactose oxidase, central domain; Region: Kelch_3;
                     pfam13415"
                     /db_xref="CDD:205593"
     misc_feature    451..612
                     /gene="KLHDC4"
                     /note="Galactose oxidase, central domain; Region: Kelch_4;
                     pfam13418"
                     /db_xref="CDD:205596"
     misc_feature    697..873
                     /gene="KLHDC4"
                     /note="Galactose oxidase, central domain; Region: Kelch_3;
                     cl02701"
                     /db_xref="CDD:207702"
     misc_feature    892..1035
                     /gene="KLHDC4"
                     /note="Galactose oxidase, central domain; Region: Kelch_3;
                     cl02701"
                     /db_xref="CDD:207702"
     exon            202..293
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            294..372
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            373..471
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            472..608
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     variation       486
                     /gene="KLHDC4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:35970259"
     variation       491
                     /gene="KLHDC4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34779002"
     exon            609..768
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            769..844
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            845..1053
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            1054..1456
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            1457..1573
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     exon            1574..1837
                     /gene="KLHDC4"
                     /inference="alignment:Splign:1.39.8"
     variation       1593
                     /gene="KLHDC4"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2290019"
     STS             1679..1808
                     /gene="KLHDC4"
                     /standard_name="RH48429"
                     /db_xref="UniSTS:2507"
ORIGIN      
atttctgtgcgccgagctccgccccacgagcacctgtttccgagcggagagcgcgggccgttttctttcctggtgtcccgtcgcggcttgggacccggcaagatgggcaagaagggcaagaaggagaagaagggccgcggcgcggagaagacggccgccaagatggagaagaaggtgtctaagcgctcgcggaaggaggaggaagacctggaagcgctcatagcccatttccagacactcgatgccaagaggactcagactgtggaacttccgtgccccccaccctcaccaaggttaaatgcctccctctcggttcatcctgagaaagatgagttaatcctttttggaggtgaatatttcaacggccaaaaaacttttttgtataacgagctctatgtctacaataccagaaaggacacctggaccaaagttgacatccccagtccacctccgaggcgctgtgctcaccaggcggtggtagtgcctcaaggtggcggacagctgtgggtctttggaggggagtttgcctctcccaacggagagcagttctaccactacaaggatctctgggtcctgcatttggccaccaagacctgggaacaagtcaaggattacatctactacaacgacgtgtatgcctttaatctggacaccttcacatggagcaagctgtccccgtcagggacggggcccacacccagatcaggctgccagatgtccgtcactccccagggcggcatcgtcgtctatgggggctactcgaaacagagagttaagaaagacgtggacaagggcacacggcactcagacatgttcctgctgaagccagaggacggaagagaagacaagtgggtttggactcggatgaacccttcgggggtcaagcccaccccacggtctggcttttccgtggccatggccccgaatcaccagacactgttcttcgggggtgtctgtgacgaggaagaggaggagagcctgtcgggcgagttcttcaacgatctgtacttctacgacgccaccaggaaccgttggtttgagggacagctgaagggacccaagtctgaaaagaagaaacgcaggcggggcagaaaagaggagcccgaaggtggtagcaggccggcgtgtgggggagctggcacccaggggcctgtgcagctggtcaaggaggtggtggccgaggatggcaccgtggtcaccattaagcaggtgctcaccgcgccaggctcggcggggcagccccggtctgaggacgaagacagccttgaggaggccggcagccccgcacctgggccgtgtccacgctccaacgccatgctggctgtgaagcatggggtgctctacgtctatgggggcatgtttgaggccggcgaccgccaggtcaccctcagcgacctgcactgcctggacctgcacaggatggaggcgtggaaggccttggtggagatggacccagaaactcaggagtggctggaggagacggactcggaagaggacagtgaggaggttgagggcgccgagggtggggtcgacgacgaagacagcggagaggagagcggtgcggaggactgagaagagcccctgccaggggcgcctggcaagtgctgtgcccacgtccgcccaggacccagccgtgttgagtgaagctcttggggccagcgtgcgtcctgacgcacaggagagagctgaaggtgggtggcccaggccagggtgtgaactttctcccatggtttagtctctgacgcggcactgggccggaagttcaactgagtgcagtgcaggtggattccctcagcagcctgtgtgttgtgtgaaataaattggacttgaaacaagaaaaaaaaaaaaaaa
//

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