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2025-05-09 19:52:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_173546 1999 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.
ACCESSION NM_173546
VERSION NM_173546.2 GI:300863121
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 1999)
AUTHORS Krem,M.M., Luo,P., Ing,B.I. and Horwitz,M.S.
TITLE The kelch protein KLHDC8B guards against mitotic errors,
centrosomal amplification, and chromosomal instability
JOURNAL J. Biol. Chem. 287 (46), 39083-39093 (2012)
PUBMED 22988245
REMARK GeneRIF: kelch protein KLHDC8B guards against mitotic errors,
centrosomal amplification, and chromosomal instability
REFERENCE 2 (bases 1 to 1999)
AUTHORS Elks,C.E., Perry,J.R., Sulem,P., Chasman,D.I., Franceschini,N.,
He,C., Lunetta,K.L., Visser,J.A., Byrne,E.M., Cousminer,D.L.,
Gudbjartsson,D.F., Esko,T., Feenstra,B., Hottenga,J.J.,
Koller,D.L., Kutalik,Z., Lin,P., Mangino,M., Marongiu,M.,
McArdle,P.F., Smith,A.V., Stolk,L., van Wingerden,S.H., Zhao,J.H.,
Albrecht,E., Corre,T., Ingelsson,E., Hayward,C., Magnusson,P.K.,
Smith,E.N., Ulivi,S., Warrington,N.M., Zgaga,L., Alavere,H.,
Amin,N., Aspelund,T., Bandinelli,S., Barroso,I., Berenson,G.S.,
Bergmann,S., Blackburn,H., Boerwinkle,E., Buring,J.E., Busonero,F.,
Campbell,H., Chanock,S.J., Chen,W., Cornelis,M.C., Couper,D.,
Coviello,A.D., d'Adamo,P., de Faire,U., de Geus,E.J., Deloukas,P.,
Doring,A., Smith,G.D., Easton,D.F., Eiriksdottir,G., Emilsson,V.,
Eriksson,J., Ferrucci,L., Folsom,A.R., Foroud,T., Garcia,M.,
Gasparini,P., Geller,F., Gieger,C., Gudnason,V., Hall,P.,
Hankinson,S.E., Ferreli,L., Heath,A.C., Hernandez,D.G., Hofman,A.,
Hu,F.B., Illig,T., Jarvelin,M.R., Johnson,A.D., Karasik,D.,
Khaw,K.T., Kiel,D.P., Kilpelainen,T.O., Kolcic,I., Kraft,P.,
Launer,L.J., Laven,J.S., Li,S., Liu,J., Levy,D., Martin,N.G.,
McArdle,W.L., Melbye,M., Mooser,V., Murray,J.C., Murray,S.S.,
Nalls,M.A., Navarro,P., Nelis,M., Ness,A.R., Northstone,K.,
Oostra,B.A., Peacock,M., Palmer,L.J., Palotie,A., Pare,G.,
Parker,A.N., Pedersen,N.L., Peltonen,L., Pennell,C.E., Pharoah,P.,
Polasek,O., Plump,A.S., Pouta,A., Porcu,E., Rafnar,T., Rice,J.P.,
Ring,S.M., Rivadeneira,F., Rudan,I., Sala,C., Salomaa,V., Sanna,S.,
Schlessinger,D., Schork,N.J., Scuteri,A., Segre,A.V.,
Shuldiner,A.R., Soranzo,N., Sovio,U., Srinivasan,S.R.,
Strachan,D.P., Tammesoo,M.L., Tikkanen,E., Toniolo,D., Tsui,K.,
Tryggvadottir,L., Tyrer,J., Uda,M., van Dam,R.M., van Meurs,J.B.,
Vollenweider,P., Waeber,G., Wareham,N.J., Waterworth,D.M.,
Weedon,M.N., Wichmann,H.E., Willemsen,G., Wilson,J.F., Wright,A.F.,
Young,L., Zhai,G., Zhuang,W.V., Bierut,L.J., Boomsma,D.I.,
Boyd,H.A., Crisponi,L., Demerath,E.W., van Duijn,C.M., Econs,M.J.,
Harris,T.B., Hunter,D.J., Loos,R.J., Metspalu,A., Montgomery,G.W.,
Ridker,P.M., Spector,T.D., Streeten,E.A., Stefansson,K.,
Thorsteinsdottir,U., Uitterlinden,A.G., Widen,E., Murabito,J.M.,
Ong,K.K. and Murray,A.
CONSRTM GIANT Consortium
TITLE Thirty new loci for age at menarche identified by a meta-analysis
of genome-wide association studies
JOURNAL Nat. Genet. 42 (12), 1077-1085 (2010)
PUBMED 21102462
REFERENCE 3 (bases 1 to 1999)
AUTHORS Krem,M.M., Salipante,S.J. and Horwitz,M.S.
TITLE Mutations in a gene encoding a midbody protein in binucleated
Reed-Sternberg cells of Hodgkin lymphoma
JOURNAL Cell Cycle 9 (4), 670-675 (2010)
PUBMED 20107318
REMARK GeneRIF: Deficiency of KLHDC8B leads to binucleated cells,
implicating its involvement in Reed-Sternberg cell formation
REFERENCE 4 (bases 1 to 1999)
AUTHORS Salipante,S.J., Mealiffe,M.E., Wechsler,J., Krem,M.M., Liu,Y.,
Namkoong,S., Bhagat,G., Kirchhoff,T., Offit,K., Lynch,H.,
Wiernik,P.H., Roshal,M., McMaster,M.L., Tucker,M., Fromm,J.R.,
Goldin,L.R. and Horwitz,M.S.
TITLE Mutations in a gene encoding a midbody kelch protein in familial
and sporadic classical Hodgkin lymphoma lead to binucleated cells
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 106 (35), 14920-14925 (2009)
PUBMED 19706467
REMARK GeneRIF: Depletion of KLHDC8B through RNA interference leads to an
increase in binucleated cells, implicating its reduced expression
in the formation of classical Hodgkin lymphoma's signature
Reed-Sternberg cell.
REFERENCE 5 (bases 1 to 1999)
AUTHORS Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
Gu,J.
TITLE Large-scale cDNA transfection screening for genes related to cancer
development and progression
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (44), 15724-15729 (2004)
PUBMED 15498874
REMARK Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE 6 (bases 1 to 1999)
AUTHORS Adams,M.D., Soares,M.B., Kerlavage,A.R., Fields,C. and Venter,J.C.
TITLE Rapid cDNA sequencing (expressed sequence tags) from a
directionally cloned human infant brain cDNA library
JOURNAL Nat. Genet. 4 (4), 373-380 (1993)
PUBMED 8401585
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from T08504.1, BC039083.1 and
BC013110.2.
This sequence is a reference standard in the RefSeqGene project.
On Jul 20, 2010 this sequence version replaced gi:27734908.
Summary: This gene encodes a protein which forms a distinct
beta-propeller protein structure of kelch domains allowing for
protein-protein interactions. Mutations in this gene have been
associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010].
##Evidence-Data-START##
Transcript exon combination :: AY129011.1, BC039083.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-50 T08504.1 1-50
51-1702 BC039083.1 1-1652
1703-1999 BC013110.2 696-992
FEATURES Location/Qualifiers
source 1..1999
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.31"
gene 1..1999
/gene="KLHDC8B"
/note="kelch domain containing 8B"
/db_xref="GeneID:200942"
/db_xref="HGNC:28557"
/db_xref="HPRD:14598"
/db_xref="MIM:613169"
exon 1..101
/gene="KLHDC8B"
/inference="alignment:Splign:1.39.8"
variation 40
/gene="KLHDC8B"
/replace="aa"
/replace="tc"
/db_xref="dbSNP:71627370"
variation 40
/gene="KLHDC8B"
/replace="a"
/replace="t"
/db_xref="dbSNP:34571182"
variation 41
/gene="KLHDC8B"
/replace="a"
/replace="c"
/db_xref="dbSNP:13096406"
variation 78
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:387906223"
variation 92
/gene="KLHDC8B"
/replace="g"
/replace="t"
/db_xref="dbSNP:116279850"
exon 102..611
/gene="KLHDC8B"
/inference="alignment:Splign:1.39.8"
variation 222
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375412310"
variation 232
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:201421481"
CDS 236..1300
/gene="KLHDC8B"
/codon_start=1
/product="kelch domain-containing protein 8B"
/protein_id="NP_775817.1"
/db_xref="GI:27734909"
/db_xref="CCDS:CCDS2791.1"
/db_xref="GeneID:200942"
/db_xref="HGNC:28557"
/db_xref="HPRD:14598"
/db_xref="MIM:613169"
/translation="
MSAGGGRAFAWQVFPPMPTCRVYGTVAHQDGHLLVLGGCGRAGLPLDTAETLDMASHTWLALAPLPTARAGAAAVVLGKQVLVVGGVDEVQSPVAAVEAFLMDEGRWERRATLPQAAMGVATVERDGMVYALGGMGPDTAPQAQVRVYEPRRDCWLSLPSMPTPCYGASTFLHGNKIYVLGGRQGKLPVTAFEAFDLEARTWTRHPSLPSRRAFAGCAMAEGSVFSLGGLQQPGPHNFYSRPHFVNTVEMFDLEHGSWTKLPRSLRMRDKRADFVVGSLGGHIVAIGGLGNQPCPLGSVESFSLARRRWEALPAMPTARCSCSSLQAGPRLFVIGGVAQGPSQAVEALCLRDGV
"
misc_feature 236..328
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 1"
misc_feature 329..472
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 2"
misc_feature 476..616
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 3"
misc_feature 617..760
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 4"
misc_feature 620..757
/gene="KLHDC8B"
/note="Kelch domain; Region: Kelch; smart00612"
/db_xref="CDD:128874"
misc_feature 725..862
/gene="KLHDC8B"
/note="Kelch motif; Region: Kelch_1; pfam01344"
/db_xref="CDD:201739"
misc_feature 761..901
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 5"
misc_feature 866..1021
/gene="KLHDC8B"
/note="Galactose oxidase, central domain; Region: Kelch_3;
cl02701"
/db_xref="CDD:207702"
misc_feature 905..1078
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 6"
misc_feature 1046..1192
/gene="KLHDC8B"
/note="Kelch motif; Region: Kelch_6; pfam13964"
/db_xref="CDD:206134"
misc_feature 1079..1222
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 7"
misc_feature 1226..1297
/gene="KLHDC8B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8IXV7.1);
Region: Kelch 8"
variation 236
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:11558200"
variation 242
/gene="KLHDC8B"
/replace="g"
/replace="t"
/db_xref="dbSNP:371827527"
variation 243
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:376554410"
variation 272
/gene="KLHDC8B"
/replace="c"
/replace="g"
/db_xref="dbSNP:199565210"
variation 277
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:201475255"
variation 299
/gene="KLHDC8B"
/replace="g"
/replace="t"
/db_xref="dbSNP:374978976"
variation 332
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:370010051"
variation 357
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:373852462"
variation 423
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:376897933"
variation 426
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149050663"
variation 435
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:368617575"
variation 440
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369834697"
variation 493
/gene="KLHDC8B"
/replace="a"
/replace="t"
/db_xref="dbSNP:148228673"
variation 552
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139300054"
exon 612..776
/gene="KLHDC8B"
/inference="alignment:Splign:1.39.8"
variation 637
/gene="KLHDC8B"
/replace="a"
/replace="c"
/db_xref="dbSNP:141927816"
variation 651
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:376929323"
variation 652
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:370116447"
variation 705
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149570292"
variation 706
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:375567221"
variation 721
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:199808095"
variation 754
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:199949878"
variation 755
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200254776"
variation 767
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:201859787"
exon 777..1001
/gene="KLHDC8B"
/inference="alignment:Splign:1.39.8"
variation 799
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:140099356"
variation 800
/gene="KLHDC8B"
/replace="c"
/replace="g"
/db_xref="dbSNP:146245053"
variation 838
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:368130572"
variation 846
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139371579"
variation 851
/gene="KLHDC8B"
/replace="c"
/replace="g"
/db_xref="dbSNP:139453635"
variation 854
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:147796338"
variation 890
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372010655"
variation 924
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369228701"
variation 952
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:146679886"
variation 957
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:201206162"
variation 966
/gene="KLHDC8B"
/replace="g"
/replace="t"
/db_xref="dbSNP:200076809"
variation 967
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:201696469"
exon 1002..1103
/gene="KLHDC8B"
/inference="alignment:Splign:1.39.8"
variation 1023
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:148999552"
variation 1068
/gene="KLHDC8B"
/replace="a"
/replace="c"
/db_xref="dbSNP:373274746"
variation 1091
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:376185018"
exon 1104..1985
/gene="KLHDC8B"
/inference="alignment:Splign:1.39.8"
variation 1119
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375754493"
variation 1137
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:148176543"
variation 1141
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:368331749"
variation 1152
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:375296215"
variation 1154
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:150205472"
variation 1157
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:367857888"
variation 1219
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:371934873"
variation 1234
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:138843346"
variation 1293
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:374910661"
variation 1300
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:111352447"
variation 1341
/gene="KLHDC8B"
/replace="c"
/replace="g"
/db_xref="dbSNP:150542030"
variation 1343
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372241018"
variation 1515
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139491293"
variation 1577
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:143176164"
variation 1671
/gene="KLHDC8B"
/replace="c"
/replace="t"
/db_xref="dbSNP:146662619"
variation 1703
/gene="KLHDC8B"
/replace="a"
/replace="g"
/db_xref="dbSNP:9586"
STS 1746..1970
/gene="KLHDC8B"
/standard_name="RH79955"
/db_xref="UniSTS:88153"
variation 1862
/gene="KLHDC8B"
/replace="a"
/replace="t"
/db_xref="dbSNP:11552"
polyA_site 1985
/gene="KLHDC8B"
ORIGIN
ccggagccccgccagagcccgacttcagccccagccagatcccgcgtcaacggaggcggaacggcggaccccgtaccctggcagcatcggagcaccggcgggtgaaggcaaggtccctggactggtcatatacctcttgtggccctggcagaatcaagatgaggccctgtcatgcctccccagtgaggcctacagtctgagcagacagcatggcctgccactggcagtgaacaccatgtctgcaggaggtggccgggcctttgcttggcaagtgttcccccccatgcccacttgccgggtctatggcacagtggcacaccaagatgggcacctgctggtgttggggggttgtggccgggctggactgcccctggacactgctgagacactggacatggcctcgcacacatggctggcactggcacccctgcccactgcccgggctggtgcagctgcggtagttctgggcaagcaggtgctagtggtgggtggtgtggatgaggtccagagcccggtagctgctgtagaggccttcctgatggatgagggccgctgggagcgtcgggccaccctccctcaagcagccatgggggttgcaactgtggagagagatggtatggtgtatgctctggggggaatgggccctgacacggccccccaggcccaggtacgtgtgtatgagccccgtcgggactgctggctttcgctaccctccatgcccacaccctgctatggggcctccaccttcctgcacgggaacaagatctatgtcctggggggccgccagggcaagctcccggtgactgcttttgaagcctttgatctggaggcccgtacatggacccggcatccaagcctacccagccgtcgggcctttgctggctgcgccatggctgaaggcagcgtctttagcctgggtggcctgcagcagcctgggccccacaacttctactctcgcccacactttgtcaacactgtggagatgtttgacctggagcatgggtcctggaccaaattgccccgcagcctgcgcatgagggataagagggcagactttgtggttgggtcccttgggggccacattgtggccattgggggccttggaaaccagccatgtcctttgggctctgtggagagctttagccttgcacggcggcgctgggaggcattgcctgccatgcccactgcccgctgctcctgctctagtctgcaggctgggccccggctgtttgttattgggggtgtggcccagggccccagtcaagccgtggaggcactgtgtctgcgtgatggggtctgaaggcttggtgggagctgtccactggagcagctcattgccagaggcagctatttctatggctccttttgctgctgaggacactcactgtggctctgtgggatgagagaggcatgggggtgagcacttgaaacactgccttggggccttgggttaggggagcctttgtctttagtgcaggacacacatatgcttacacctacctttatcaccattcgttcatgaatcatgcctagctccatccttgccctgggacctactaggccttccatccaactgggaaatggggagaagcaaagctggcctcatgctcttcagggtcagttcctatctggagttgaccaggcctaccccagttgccattcctgaaaaatctcagctgccaggctgcctttagggtccctgcagacccaggagagttgagagggtgggggacacagagagaatagagaggatgtgggaactgccagagggccggagcgcaggagttcaagtggaggaatgctggctttgagccctctacactgctggttgtatgaccttggacaagtcacttcacctctctgtgcctcagcatcctcatctataaatggggatctctgaaaccttcctaccctacctacctcacagggctgttgtgaggacccagggagtttggatgtggaagtaaaagtgctgctaaaacctaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:200942 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
by
@meso_cacase at
DBCLS
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