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2026-04-25 17:57:10, 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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