BOD1_HUMAN
ID BOD1_HUMAN Reviewed; 185 AA.
AC Q96IK1; B4DXH8; Q9BTW1;
DT 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Biorientation of chromosomes in cell division protein 1;
DE AltName: Full=Biorientation defective protein 1;
DE AltName: Full=Protein FAM44B;
GN Name=BOD1; Synonyms=FAM44B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Li H., Ke R., Zhou G., Shen C., Zheng G., Lin L., Yang S.;
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lung, and Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=17938248; DOI=10.1083/jcb.200704098;
RA Porter I.M., McClelland S.E., Khoudoli G.A., Hunter C.J., Andersen J.S.,
RA McAinsh A.D., Blow J.J., Swedlow J.R.;
RT "Bod1, a novel kinetochore protein required for chromosome biorientation.";
RL J. Cell Biol. 179:187-197(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP IDENTIFICATION IN SET1B COMPLEX.
RX PubMed=23508102; DOI=10.1128/mcb.01742-12;
RA van Nuland R., Smits A.H., Pallaki P., Jansen P.W., Vermeulen M.,
RA Timmers H.T.;
RT "Quantitative dissection and stoichiometry determination of the human
RT SET1/MLL histone methyltransferase complexes.";
RL Mol. Cell. Biol. 33:2067-2077(2013).
CC -!- FUNCTION: Required for proper chromosome biorientation through the
CC detection or correction of syntelic attachments in mitotic spindles.
CC {ECO:0000269|PubMed:17938248}.
CC -!- SUBUNIT: Component of the SET1B complex composed of the catalytic
CC subunit SETD1B, WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1,
CC DPY30 homotrimer and BOD1. {ECO:0000269|PubMed:23508102}.
CC -!- INTERACTION:
CC Q96IK1-2; Q9UI12: ATP6V1H; NbExp=3; IntAct=EBI-18924329, EBI-724719;
CC Q96IK1-2; O95817: BAG3; NbExp=3; IntAct=EBI-18924329, EBI-747185;
CC Q96IK1-2; P05937: CALB1; NbExp=3; IntAct=EBI-18924329, EBI-4286943;
CC Q96IK1-2; P07858: CTSB; NbExp=3; IntAct=EBI-18924329, EBI-715062;
CC Q96IK1-2; P68104: EEF1A1; NbExp=3; IntAct=EBI-18924329, EBI-352162;
CC Q96IK1-2; P21333-2: FLNA; NbExp=3; IntAct=EBI-18924329, EBI-9641086;
CC Q96IK1-2; P78333: GPC5; NbExp=3; IntAct=EBI-18924329, EBI-2558325;
CC Q96IK1-2; P31153: MAT2A; NbExp=3; IntAct=EBI-18924329, EBI-1050743;
CC Q96IK1-2; P28331-5: NDUFS1; NbExp=3; IntAct=EBI-18924329, EBI-25876328;
CC Q96IK1-2; P16519: PCSK2; NbExp=3; IntAct=EBI-18924329, EBI-514360;
CC Q96IK1-2; Q8N2W9: PIAS4; NbExp=3; IntAct=EBI-18924329, EBI-473160;
CC Q96IK1-2; P14618: PKM; NbExp=3; IntAct=EBI-18924329, EBI-353408;
CC Q96IK1-2; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-18924329, EBI-742388;
CC Q96IK1-2; Q6NXR8: RPS3A; NbExp=3; IntAct=EBI-18924329, EBI-11602692;
CC Q96IK1-2; P17752: TPH1; NbExp=3; IntAct=EBI-18924329, EBI-3956833;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000269|PubMed:17938248}. Chromosome,
CC centromere, kinetochore {ECO:0000269|PubMed:17938248}. Note=Localizes
CC at the centrosomes throughout the cell cycle, only dissociating during
CC cytokinesis. Localizes at the kinetochore from prometaphase until
CC anaphase.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96IK1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96IK1-2; Sequence=VSP_016161, VSP_016162;
CC -!- SIMILARITY: Belongs to the BOD1 family. {ECO:0000305}.
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DR EMBL; AY303777; AAP76182.1; -; mRNA.
DR EMBL; AK301982; BAG63390.1; -; mRNA.
DR EMBL; CH471062; EAW61396.1; -; Genomic_DNA.
DR EMBL; BC003114; AAH03114.2; -; mRNA.
DR EMBL; BC007436; AAH07436.2; -; mRNA.
DR CCDS; CCDS4389.1; -. [Q96IK1-1]
DR CCDS; CCDS54951.1; -. [Q96IK1-2]
DR RefSeq; NP_001153123.1; NM_001159651.1. [Q96IK1-2]
DR RefSeq; NP_612378.1; NM_138369.2. [Q96IK1-1]
DR AlphaFoldDB; Q96IK1; -.
DR BioGRID; 124809; 30.
DR ComplexPortal; CPX-7111; Histone-lysine N-methyltransferase complex, SET1B variant.
DR CORUM; Q96IK1; -.
DR IntAct; Q96IK1; 27.
DR STRING; 9606.ENSP00000309644; -.
DR iPTMnet; Q96IK1; -.
DR PhosphoSitePlus; Q96IK1; -.
DR BioMuta; BOD1; -.
DR DMDM; 74732069; -.
DR EPD; Q96IK1; -.
DR jPOST; Q96IK1; -.
DR MassIVE; Q96IK1; -.
DR MaxQB; Q96IK1; -.
DR PaxDb; Q96IK1; -.
DR PeptideAtlas; Q96IK1; -.
DR PRIDE; Q96IK1; -.
DR ProteomicsDB; 76836; -. [Q96IK1-1]
DR ProteomicsDB; 76837; -. [Q96IK1-2]
DR Antibodypedia; 45945; 152 antibodies from 24 providers.
DR DNASU; 91272; -.
DR Ensembl; ENST00000285908.5; ENSP00000285908.5; ENSG00000145919.11. [Q96IK1-2]
DR Ensembl; ENST00000311086.9; ENSP00000309644.4; ENSG00000145919.11. [Q96IK1-1]
DR GeneID; 91272; -.
DR KEGG; hsa:91272; -.
DR MANE-Select; ENST00000311086.9; ENSP00000309644.4; NM_138369.3; NP_612378.1.
DR UCSC; uc003mcq.3; human. [Q96IK1-1]
DR CTD; 91272; -.
DR DisGeNET; 91272; -.
DR GeneCards; BOD1; -.
DR HGNC; HGNC:25114; BOD1.
DR HPA; ENSG00000145919; Low tissue specificity.
DR MIM; 616745; gene.
DR neXtProt; NX_Q96IK1; -.
DR OpenTargets; ENSG00000145919; -.
DR PharmGKB; PA164716651; -.
DR VEuPathDB; HostDB:ENSG00000145919; -.
DR eggNOG; ENOG502S57W; Eukaryota.
DR GeneTree; ENSGT00940000154979; -.
DR HOGENOM; CLU_139504_0_0_1; -.
DR InParanoid; Q96IK1; -.
DR OMA; IICQVVD; -.
DR OrthoDB; 1333373at2759; -.
DR PhylomeDB; Q96IK1; -.
DR TreeFam; TF325311; -.
DR PathwayCommons; Q96IK1; -.
DR SignaLink; Q96IK1; -.
DR BioGRID-ORCS; 91272; 10 hits in 1036 CRISPR screens.
DR ChiTaRS; BOD1; human.
DR GenomeRNAi; 91272; -.
DR Pharos; Q96IK1; Tbio.
DR PRO; PR:Q96IK1; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96IK1; protein.
DR Bgee; ENSG00000145919; Expressed in oocyte and 184 other tissues.
DR ExpressionAtlas; Q96IK1; baseline and differential.
DR Genevisible; Q96IK1; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0000940; C:outer kinetochore; IDA:UniProtKB.
DR GO; GO:0048188; C:Set1C/COMPASS complex; IPI:ComplexPortal.
DR GO; GO:0005876; C:spindle microtubule; IDA:UniProtKB.
DR GO; GO:0000922; C:spindle pole; IDA:UniProtKB.
DR GO; GO:0051721; F:protein phosphatase 2A binding; IPI:UniProtKB.
DR GO; GO:0004864; F:protein phosphatase inhibitor activity; IDA:UniProtKB.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0051568; P:histone H3-K4 methylation; IC:ComplexPortal.
DR GO; GO:0007080; P:mitotic metaphase plate congression; IMP:UniProtKB.
DR GO; GO:1990758; P:mitotic sister chromatid biorientation; IMP:UniProtKB.
DR GO; GO:0071962; P:mitotic sister chromatid cohesion, centromeric; IMP:UniProtKB.
DR GO; GO:0032515; P:negative regulation of phosphoprotein phosphatase activity; IDA:UniProtKB.
DR GO; GO:0071459; P:protein localization to chromosome, centromeric region; IMP:UniProtKB.
DR InterPro; IPR026955; Bod1-like.
DR PANTHER; PTHR31532; PTHR31532; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Cell division; Centromere; Chromosome;
KW Cytoplasm; Cytoskeleton; Kinetochore; Mitosis; Reference proteome.
FT CHAIN 1..185
FT /note="Biorientation of chromosomes in cell division
FT protein 1"
FT /id="PRO_0000187028"
FT REGION 1..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 160..185
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 122..129
FT /note="SGMLEAGV -> IRQTPFES (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_016161"
FT VAR_SEQ 130..185
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_016162"
SQ SEQUENCE 185 AA; 19196 MW; 7A2A64C441C8BE7D CRC64;
MADGGGGGGT GAVGGGGTSQ ASAGAATGAT GASGGGGPIN PASLPPGDPQ LIALIVEQLK
SRGLFDSFRR DCLADVDTKP AYQNLRQKVD NFVSTHLDKQ EWNPTMNKNQ LRNGLRQSVV
QSGMLEAGVD RIISQVVDPK LNHIFRPQIE RAIHEFLAAQ KKAAVPAPPP EPEGQDPPAP
SQDTS
