BAP18_HUMAN
ID BAP18_HUMAN Reviewed; 172 AA.
AC Q8IXM2; B4DIV3; C9J4G0; E9PB29;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=Chromatin complexes subunit BAP18;
DE AltName: Full=BPTF-associated protein of 18 kDa;
GN Name=BAP18; Synonyms=C17orf49;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15146197; DOI=10.1038/nbt971;
RA Brandenberger R., Wei H., Zhang S., Lei S., Murage J., Fisk G.J., Li Y.,
RA Xu C., Fang R., Guegler K., Rao M.S., Mandalam R., Lebkowski J.,
RA Stanton L.W.;
RT "Transcriptome characterization elucidates signaling networks that control
RT human ES cell growth and differentiation.";
RL Nat. Biotechnol. 22:707-716(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
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].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Mammary gland, and Ovary;
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 [6]
RP IDENTIFICATION IN THE MLL1/MLL COMPLEX.
RX PubMed=15960975; DOI=10.1016/j.cell.2005.04.031;
RA Dou Y., Milne T.A., Tackett A.J., Smith E.R., Fukuda A., Wysocka J.,
RA Allis C.D., Chait B.T., Hess J.L., Roeder R.G.;
RT "Physical association and coordinate function of the H3 K4
RT methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.";
RL Cell 121:873-885(2005).
RN [7]
RP IDENTIFICATION IN THE NURF COMPLEX.
RX PubMed=20850016; DOI=10.1016/j.cell.2010.08.020;
RA Vermeulen M., Eberl H.C., Matarese F., Marks H., Denissov S., Butter F.,
RA Lee K.K., Olsen J.V., Hyman A.A., Stunnenberg H.G., Mann M.;
RT "Quantitative interaction proteomics and genome-wide profiling of
RT epigenetic histone marks and their readers.";
RL Cell 142:967-980(2010).
CC -!- FUNCTION: Component of chromatin complexes such as the MLL1/MLL and
CC NURF complexes.
CC -!- SUBUNIT: Component of some MLL1/MLL complex, at least composed of the
CC core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well
CC as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1,
CC LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2,
CC RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and
CC TEX10. Component of the nucleosome-remodeling factor (NURF) complex.
CC {ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:20850016}.
CC -!- INTERACTION:
CC Q8IXM2; Q8IXM2: BAP18; NbExp=3; IntAct=EBI-4280811, EBI-4280811;
CC Q8IXM2; Q9C005: DPY30; NbExp=3; IntAct=EBI-4280811, EBI-744973;
CC Q8IXM2; P28799: GRN; NbExp=3; IntAct=EBI-4280811, EBI-747754;
CC Q8IXM2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-4280811, EBI-10975473;
CC Q8IXM2; P43357: MAGEA3; NbExp=3; IntAct=EBI-4280811, EBI-5651459;
CC Q8IXM2; P07196: NEFL; NbExp=3; IntAct=EBI-4280811, EBI-475646;
CC Q8IXM2; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-4280811, EBI-396669;
CC Q8IXM2; O76024: WFS1; NbExp=3; IntAct=EBI-4280811, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8IXM2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IXM2-2; Sequence=VSP_043754;
CC Name=3;
CC IsoId=Q8IXM2-3; Sequence=VSP_047095;
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DR EMBL; CN280697; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK295795; BAG58615.1; -; mRNA.
DR EMBL; AC040977; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471108; EAW90278.1; -; Genomic_DNA.
DR EMBL; BC040036; AAH40036.1; -; mRNA.
DR EMBL; BC040148; AAH40148.1; -; mRNA.
DR CCDS; CCDS32542.1; -. [Q8IXM2-1]
DR CCDS; CCDS45595.1; -. [Q8IXM2-3]
DR CCDS; CCDS45596.1; -. [Q8IXM2-2]
DR RefSeq; NP_001136270.1; NM_001142798.2. [Q8IXM2-3]
DR RefSeq; NP_001136271.1; NM_001142799.2. [Q8IXM2-2]
DR RefSeq; NP_777553.1; NM_174893.3. [Q8IXM2-1]
DR AlphaFoldDB; Q8IXM2; -.
DR SMR; Q8IXM2; -.
DR BioGRID; 125903; 99.
DR CORUM; Q8IXM2; -.
DR DIP; DIP-60552N; -.
DR IntAct; Q8IXM2; 21.
DR MINT; Q8IXM2; -.
DR STRING; 9606.ENSP00000448598; -.
DR GlyGen; Q8IXM2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IXM2; -.
DR MetOSite; Q8IXM2; -.
DR PhosphoSitePlus; Q8IXM2; -.
DR BioMuta; C17orf49; -.
DR DMDM; 74759674; -.
DR EPD; Q8IXM2; -.
DR jPOST; Q8IXM2; -.
DR MassIVE; Q8IXM2; -.
DR MaxQB; Q8IXM2; -.
DR PaxDb; Q8IXM2; -.
DR PeptideAtlas; Q8IXM2; -.
DR PRIDE; Q8IXM2; -.
DR ProteomicsDB; 71027; -. [Q8IXM2-1]
DR ProteomicsDB; 71028; -. [Q8IXM2-2]
DR ProteomicsDB; 8467; -.
DR TopDownProteomics; Q8IXM2-1; -. [Q8IXM2-1]
DR Antibodypedia; 61837; 107 antibodies from 20 providers.
DR DNASU; 124944; -.
DR Ensembl; ENST00000439424.6; ENSP00000411851.2; ENSG00000258315.5. [Q8IXM2-1]
DR Ensembl; ENST00000546495.5; ENSP00000448598.1; ENSG00000258315.5. [Q8IXM2-3]
DR Ensembl; ENST00000552402.5; ENSP00000448746.1; ENSG00000258315.5. [Q8IXM2-2]
DR GeneID; 124944; -.
DR KEGG; hsa:124944; -.
DR MANE-Select; ENST00000439424.6; ENSP00000411851.2; NM_174893.4; NP_777553.1.
DR UCSC; uc002ged.4; human. [Q8IXM2-1]
DR CTD; 124944; -.
DR DisGeNET; 124944; -.
DR GeneCards; C17orf49; -.
DR HGNC; HGNC:28737; C17orf49.
DR HPA; ENSG00000258315; Low tissue specificity.
DR neXtProt; NX_Q8IXM2; -.
DR OpenTargets; ENSG00000258315; -.
DR PharmGKB; PA142672232; -.
DR VEuPathDB; HostDB:ENSG00000258315; -.
DR eggNOG; KOG4834; Eukaryota.
DR GeneTree; ENSGT00390000014721; -.
DR HOGENOM; CLU_104449_0_0_1; -.
DR InParanoid; Q8IXM2; -.
DR OMA; PEECQVK; -.
DR OrthoDB; 1590112at2759; -.
DR PhylomeDB; Q8IXM2; -.
DR TreeFam; TF324877; -.
DR PathwayCommons; Q8IXM2; -.
DR SignaLink; Q8IXM2; -.
DR BioGRID-ORCS; 124944; 194 hits in 1019 CRISPR screens.
DR GenomeRNAi; 124944; -.
DR Pharos; Q8IXM2; Tbio.
DR PRO; PR:Q8IXM2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8IXM2; protein.
DR Bgee; ENSG00000258315; Expressed in granulocyte and 97 other tissues.
DR ExpressionAtlas; Q8IXM2; baseline and differential.
DR Genevisible; Q8IXM2; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0071339; C:MLL1 complex; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0016589; C:NURF complex; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0006325; P:chromatin organization; IEA:UniProtKB-KW.
DR CDD; cd00167; SANT; 1.
DR InterPro; IPR037931; BAP18.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001005; SANT/Myb.
DR PANTHER; PTHR21397:SF2; PTHR21397:SF2; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromatin regulator; DNA-binding; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..172
FT /note="Chromatin complexes subunit BAP18"
FT /id="PRO_0000264251"
FT DOMAIN 38..86
FT /note="SANT"
FT REGION 87..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 110..124
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 96
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DCT6"
FT VAR_SEQ 40..73
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15146197"
FT /id="VSP_043754"
FT VAR_SEQ 172
FT /note="A -> DSLTLDSGLLMTSADPPLLSC (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_047095"
SQ SEQUENCE 172 AA; 17900 MW; EED33FA9BD649F19 CRC64;
MTSASTKVGE IFSAAGAAFT KLGELTMQLH PVADSSPAGA KWTETEIEML RAAVKRFGDD
LNHISCVIKE RTVAQIKATV KRKVYEDSGI PLPAESPKKG PKKVASGVLS PPPAAPPPSS
SSVPEAGGPP IKKQKADVTL SALNDSDANS DVVDIEGLGE TPPAKKLNFD QA
