ID BAALC_HUMAN Reviewed; 180 AA. AC Q8WXS3; Q8WTP6; Q8WXS0; Q8WXS1; Q8WXS2; Q9HA93; DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2007, sequence version 3. DT 04-MAR-2015, entry version 85. DE RecName: Full=Brain and acute leukemia cytoplasmic protein; GN Name=BAALC; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND RP 6), SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY. RX PubMed=11707601; DOI=10.1073/pnas.241525498; RA Tanner S.M., Austin J.L., Leone G., Rush L.J., Plass C., Heinonen K., RA Mrozek K., Sill H., Knuutila S., Kolitz J.E., Archer K.J., RA Caligiuri M.A., Bloomfield C.D., de La Chapelle A.; RT "BAALC, the human member of a novel mammalian neuroectoderm gene RT lineage, is implicated in hematopoiesis and acute leukemia."; RL Proc. Natl. Acad. Sci. U.S.A. 98:13901-13906(2001). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Embryo; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 MRNA] (ISOFORMS 2 AND 6). RC TISSUE=Brain; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: May play a synaptic role at the postsynaptic lipid rafts CC by interacting with CAMK2A. {ECO:0000250}. CC -!- SUBUNIT: Interacts with CAMK2A. {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11707601}. CC Membrane {ECO:0000269|PubMed:11707601}. Note=Postsynaptic lipid CC rafts. {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=6; CC Name=1; Synonyms=1-5-6-8; CC IsoId=Q8WXS3-1; Sequence=Displayed; CC Note=No experimental confirmation available.; CC Name=2; Synonyms=1-6-8; CC IsoId=Q8WXS3-2; Sequence=VSP_020196; CC Name=3; Synonyms=1-5-6-7-8; CC IsoId=Q8WXS3-3; Sequence=VSP_020197, VSP_020198; CC Note=No experimental confirmation available.; CC Name=4; Synonyms=1-2; CC IsoId=Q8WXS3-4; Sequence=VSP_020199, VSP_020200; CC Note=No experimental confirmation available.; CC Name=5; Synonyms=1-4-5-6-8; CC IsoId=Q8WXS3-5; Sequence=VSP_020201, VSP_020202; CC Note=No experimental confirmation available.; CC Name=6; Synonyms=1-8; CC IsoId=Q8WXS3-6; Sequence=VSP_020203, VSP_020204; CC -!- TISSUE SPECIFICITY: Expressed by neural and hematopoietic cells. CC Expression is found both in normal early progenitor cells and in CC the most immature type of blasts in acute leukemia but not in CC mature hematopoietic cells. Isoform 2 and isoform 6 are expressed CC in the brain. Isoform 2 shows a low expression in neuroectoderm- CC derived tissues such as adrenal gland and no expression in bone CC marrow, peripheral blood lymphocytes or lymph nodes, or in tumors CC or cancer cell lines of nonneural tissue origin. CC {ECO:0000269|PubMed:11707601}. CC -!- PTM: Palmitoylation and myristoylation target the protein to the CC lipid rafts. {ECO:0000250}. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology CC and Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/BAALCID739ch8q22.html"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF371319; AAL50515.1; -; mRNA. DR EMBL; AF371323; AAL50519.1; -; mRNA. DR EMBL; AF363578; AAL50377.1; -; Genomic_DNA. DR EMBL; AF363578; AAL50378.1; -; Genomic_DNA. DR EMBL; AF363578; AAL50379.1; -; Genomic_DNA. DR EMBL; AF363578; AAL50380.1; -; Genomic_DNA. DR EMBL; AF363578; AAL50381.1; -; Genomic_DNA. DR EMBL; AF363578; AAL50382.1; -; Genomic_DNA. DR EMBL; AK022077; BAB13960.1; -; mRNA. DR EMBL; BC011517; AAH11517.1; -; mRNA. DR EMBL; BC035038; AAH35038.1; -; mRNA. DR CCDS; CCDS47906.1; -. [Q8WXS3-6] DR CCDS; CCDS6297.1; -. [Q8WXS3-2] DR RefSeq; NP_001019543.1; NM_001024372.1. [Q8WXS3-6] DR RefSeq; NP_079088.1; NM_024812.2. [Q8WXS3-2] DR UniGene; Hs.533446; -. DR ProteinModelPortal; Q8WXS3; -. DR BioGrid; 122958; 2. DR IntAct; Q8WXS3; 2. DR MINT; MINT-1479871; -. DR STRING; 9606.ENSP00000312457; -. DR PhosphoSite; Q8WXS3; -. DR DMDM; 74730996; -. DR PaxDb; Q8WXS3; -. DR PRIDE; Q8WXS3; -. DR DNASU; 79870; -. DR Ensembl; ENST00000297574; ENSP00000297574; ENSG00000164929. [Q8WXS3-1] DR Ensembl; ENST00000306391; ENSP00000302559; ENSG00000164929. [Q8WXS3-4] DR Ensembl; ENST00000309982; ENSP00000312457; ENSG00000164929. [Q8WXS3-2] DR Ensembl; ENST00000330955; ENSP00000331579; ENSG00000164929. [Q8WXS3-5] DR Ensembl; ENST00000438105; ENSP00000395024; ENSG00000164929. [Q8WXS3-6] DR GeneID; 79870; -. DR KEGG; hsa:79870; -. DR UCSC; uc003yld.3; human. [Q8WXS3-2] DR UCSC; uc003yle.3; human. [Q8WXS3-6] DR CTD; 79870; -. DR GeneCards; GC08P104152; -. DR HGNC; HGNC:14333; BAALC. DR HPA; HPA027132; -. DR MIM; 606602; gene. DR neXtProt; NX_Q8WXS3; -. DR PharmGKB; PA25230; -. DR eggNOG; NOG87601; -. DR GeneTree; ENSGT00390000013853; -. DR HOGENOM; HOG000253947; -. DR HOVERGEN; HBG080887; -. DR InParanoid; Q8WXS3; -. DR OMA; PEKKTNC; -. DR OrthoDB; EOG7D2FG6; -. DR PhylomeDB; Q8WXS3; -. DR TreeFam; TF330767; -. DR ChiTaRS; BAALC; human. DR GenomeRNAi; 79870; -. DR NextBio; 69631; -. DR PRO; PR:Q8WXS3; -. DR Proteomes; UP000005640; Chromosome 8. DR Bgee; Q8WXS3; -. DR CleanEx; HS_BAALC; -. DR Genevestigator; Q8WXS3; -. DR GO; GO:0005737; C:cytoplasm; IDA:MGI. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR InterPro; IPR009728; BAALC. DR PANTHER; PTHR14731; PTHR14731; 1. DR Pfam; PF06989; BAALC_N; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; Cytoplasm; Lipoprotein; KW Membrane; Myristate; Palmitate; Polymorphism; Reference proteome. FT INIT_MET 1 1 Removed. FT CHAIN 2 180 Brain and acute leukemia cytoplasmic FT protein. FT /FTId=PRO_0000248205. FT REGION 4 36 Interaction with CAMK2A. {ECO:0000250}. FT LIPID 2 2 N-myristoyl glycine. {ECO:0000250}. FT LIPID 3 3 S-palmitoyl cysteine. {ECO:0000250}. FT VAR_SEQ 54 88 Missing (in isoform 2). FT {ECO:0000303|PubMed:11707601, FT ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_020196. FT VAR_SEQ 54 80 VLEAEKSKIKAPTDSVSDEGLFSASKM -> AHYPLAFALA FT WRDNSLGALLVQEGLCR (in isoform 4). FT {ECO:0000303|PubMed:11707601}. FT /FTId=VSP_020199. FT VAR_SEQ 54 73 VLEAEKSKIKAPTDSVSDEG -> GCLEEHYHLTALQKVGH FT PNH (in isoform 5). FT {ECO:0000303|PubMed:11707601}. FT /FTId=VSP_020201. FT VAR_SEQ 54 54 V -> G (in isoform 6). FT {ECO:0000303|PubMed:11707601, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_020203. FT VAR_SEQ 55 180 Missing (in isoform 6). FT {ECO:0000303|PubMed:11707601, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_020204. FT VAR_SEQ 74 180 Missing (in isoform 5). FT {ECO:0000303|PubMed:11707601}. FT /FTId=VSP_020202. FT VAR_SEQ 81 180 Missing (in isoform 4). FT {ECO:0000303|PubMed:11707601}. FT /FTId=VSP_020200. FT VAR_SEQ 145 149 AKRDA -> VLLPS (in isoform 3). FT {ECO:0000303|PubMed:11707601}. FT /FTId=VSP_020197. FT VAR_SEQ 150 180 Missing (in isoform 3). FT {ECO:0000303|PubMed:11707601}. FT /FTId=VSP_020198. FT VARIANT 164 164 S -> T (in dbSNP:rs34542607). FT /FTId=VAR_056741. SQ SEQUENCE 180 AA; 19224 MW; 380183E0F188F684 CRC64; MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSVLEAEKS KIKAPTDSVS DEGLFSASKM APLAVFSHGM LEDGLPSNGV PRSTAPGGIP NPEKKTNCET QCPNPQSLSS GPLTQKQNGL QTTEAKRDAK RMPAKEVTIN VTDSIQQMDR SRRITKNCVN //