LOCUS       NM_173546               1972 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.
ACCESSION   NM_173546
VERSION     NM_173546.3
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 1972)
  AUTHORS   Krem,M.M. and Horwitz,M.S.
  TITLE     Mitotic errors, aneuploidy and micronuclei in Hodgkin lymphoma
            pathogenesis
  JOURNAL   Commun Integr Biol 6 (3), e23544 (2013)
   PUBMED   23713010
REFERENCE   2  (bases 1 to 1972)
  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   3  (bases 1 to 1972)
  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   4  (bases 1 to 1972)
  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   5  (bases 1 to 1972)
  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   6  (bases 1 to 1972)
  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   7  (bases 1 to 1972)
  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 Nov 22, 2018 this sequence version replaced NM_173546.2.
            
            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, SRR1803617.205687.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332780.4/ ENSP00000327468.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                T08504.1           14-50
            38-1689             BC039083.1         1-1652
            1690-1972           BC013110.2         696-978
FEATURES             Location/Qualifiers
     source          1..1972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1972
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /note="kelch domain containing 8B"
                     /db_xref="GeneID:200942"
                     /db_xref="HGNC:HGNC:28557"
                     /db_xref="MIM:613169"
     exon            1..88
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /inference="alignment:Splign:2.1.0"
     exon            89..598
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /inference="alignment:Splign:2.1.0"
     CDS             223..1287
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /codon_start=1
                     /product="kelch domain-containing protein 8B"
                     /protein_id="NP_775817.1"
                     /db_xref="CCDS:CCDS2791.1"
                     /db_xref="GeneID:200942"
                     /db_xref="HGNC:HGNC:28557"
                     /db_xref="MIM:613169"
                     /translation="MSAGGGRAFAWQVFPPMPTCRVYGTVAHQDGHLLVLGGCGRAGL
                     PLDTAETLDMASHTWLALAPLPTARAGAAAVVLGKQVLVVGGVDEVQSPVAAVEAFLM
                     DEGRWERRATLPQAAMGVATVERDGMVYALGGMGPDTAPQAQVRVYEPRRDCWLSLPS
                     MPTPCYGASTFLHGNKIYVLGGRQGKLPVTAFEAFDLEARTWTRHPSLPSRRAFAGCA
                     MAEGSVFSLGGLQQPGPHNFYSRPHFVNTVEMFDLEHGSWTKLPRSLRMRDKRADFVV
                     GSLGGHIVAIGGLGNQPCPLGSVESFSLARRRWEALPAMPTARCSCSSLQAGPRLFVI
                     GGVAQGPSQAVEALCLRDGV"
     exon            599..763
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /inference="alignment:Splign:2.1.0"
     exon            764..988
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1090
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1972
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1950..1955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /note="hexamer: AGTAAA"
     polyA_site      1972
                     /gene="KLHDC8B"
                     /gene_synonym="CHL"
                     /note="major polyA site"
ORIGIN      
        1 agagcccgac ttcagcccca gccagatccc gcgtcaacgg aggcggaacg gcggaccccg
       61 taccctggca gcatcggagc accggcgggt gaaggcaagg tccctggact ggtcatatac
      121 ctcttgtggc cctggcagaa tcaagatgag gccctgtcat gcctccccag tgaggcctac
      181 agtctgagca gacagcatgg cctgccactg gcagtgaaca ccatgtctgc aggaggtggc
      241 cgggcctttg cttggcaagt gttccccccc atgcccactt gccgggtcta tggcacagtg
      301 gcacaccaag atgggcacct gctggtgttg gggggttgtg gccgggctgg actgcccctg
      361 gacactgctg agacactgga catggcctcg cacacatggc tggcactggc acccctgccc
      421 actgcccggg ctggtgcagc tgcggtagtt ctgggcaagc aggtgctagt ggtgggtggt
      481 gtggatgagg tccagagccc ggtagctgct gtagaggcct tcctgatgga tgagggccgc
      541 tgggagcgtc gggccaccct ccctcaagca gccatggggg ttgcaactgt ggagagagat
      601 ggtatggtgt atgctctggg gggaatgggc cctgacacgg ccccccaggc ccaggtacgt
      661 gtgtatgagc cccgtcggga ctgctggctt tcgctaccct ccatgcccac accctgctat
      721 ggggcctcca ccttcctgca cgggaacaag atctatgtcc tggggggccg ccagggcaag
      781 ctcccggtga ctgcttttga agcctttgat ctggaggccc gtacatggac ccggcatcca
      841 agcctaccca gccgtcgggc ctttgctggc tgcgccatgg ctgaaggcag cgtctttagc
      901 ctgggtggcc tgcagcagcc tgggccccac aacttctact ctcgcccaca ctttgtcaac
      961 actgtggaga tgtttgacct ggagcatggg tcctggacca aattgccccg cagcctgcgc
     1021 atgagggata agagggcaga ctttgtggtt gggtcccttg ggggccacat tgtggccatt
     1081 gggggccttg gaaaccagcc atgtcctttg ggctctgtgg agagctttag ccttgcacgg
     1141 cggcgctggg aggcattgcc tgccatgccc actgcccgct gctcctgctc tagtctgcag
     1201 gctgggcccc ggctgtttgt tattgggggt gtggcccagg gccccagtca agccgtggag
     1261 gcactgtgtc tgcgtgatgg ggtctgaagg cttggtggga gctgtccact ggagcagctc
     1321 attgccagag gcagctattt ctatggctcc ttttgctgct gaggacactc actgtggctc
     1381 tgtgggatga gagaggcatg ggggtgagca cttgaaacac tgccttgggg ccttgggtta
     1441 ggggagcctt tgtctttagt gcaggacaca catatgctta cacctacctt tatcaccatt
     1501 cgttcatgaa tcatgcctag ctccatcctt gccctgggac ctactaggcc ttccatccaa
     1561 ctgggaaatg gggagaagca aagctggcct catgctcttc agggtcagtt cctatctgga
     1621 gttgaccagg cctaccccag ttgccattcc tgaaaaatct cagctgccag gctgccttta
     1681 gggtccctgc agacccagga gagttgagag ggtgggggac acagagagaa tagagaggat
     1741 gtgggaactg ccagagggcc ggagcgcagg agttcaagtg gaggaatgct ggctttgagc
     1801 cctctacact gctggttgta tgaccttgga caagtcactt cacctctctg tgcctcagca
     1861 tcctcatcta taaatgggga tctctgaaac cttcctaccc tacctacctc acagggctgt
     1921 tgtgaggacc cagggagttt ggatgtggaa gtaaaagtgc tgctaaaacc ta
//
