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 16-JAN-2019, entry version 110. DE RecName: Full=Brain and acute leukemia cytoplasmic protein {ECO:0000303|PubMed:11707601}; 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), 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 possibly through interaction with CAMK2A. CC {ECO:0000250|UniProtKB:Q920K5}. CC -!- SUBUNIT: Interacts with CAMK2A. {ECO:0000250|UniProtKB:Q920K5}. CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11707601}. CC Cell junction, synapse, synaptosome CC {ECO:0000250|UniProtKB:Q920K5}. Membrane raft CC {ECO:0000250|UniProtKB:Q920K5}. Cell junction, synapse, CC postsynaptic cell membrane, postsynaptic density CC {ECO:0000250|UniProtKB:Q920K5}. Note=In neurons, localizes to CC postsynaptic lipid rafts (By similarity). In myocardial and CC skeletal muscle cells, localizes to the cytoplasm adjacent to the CC inner cell membrane, polarized to one end of the myocyte (By CC similarity). {ECO:0000250|UniProtKB:Q8VHV1, CC ECO:0000250|UniProtKB:Q920K5}. 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: Predominantly expressed in neuroectoderm- CC derived tissues. Expressed in the brain and spinal cord, and at CC low levels, in the adrenal gland. In the bone marrow, confined to CC the CD34+ progenitor cells. Not found in peripheral blood CC mononuclear cells, nor lymph nodes. Tends to be expressed at high CC levels in acute myeloid leukemia and glioblastoma cells. CC {ECO:0000269|PubMed:11707601}. CC -!- PTM: Palmitoylation and myristoylation target the protein to the CC lipid rafts. {ECO:0000250|UniProtKB:Q920K5}. 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 SMR; Q8WXS3; -. DR BioGrid; 122958; 11. DR IntAct; Q8WXS3; 5. DR MINT; Q8WXS3; -. DR iPTMnet; Q8WXS3; -. DR PhosphoSitePlus; Q8WXS3; -. DR BioMuta; BAALC; -. DR DMDM; 74730996; -. DR jPOST; Q8WXS3; -. DR PeptideAtlas; Q8WXS3; -. DR PRIDE; Q8WXS3; -. DR ProteomicsDB; 75088; -. DR ProteomicsDB; 75089; -. [Q8WXS3-2] DR ProteomicsDB; 75090; -. [Q8WXS3-3] DR ProteomicsDB; 75091; -. [Q8WXS3-4] DR ProteomicsDB; 75092; -. [Q8WXS3-5] DR ProteomicsDB; 75093; -. [Q8WXS3-6] 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.4; human. [Q8WXS3-1] DR CTD; 79870; -. DR DisGeNET; 79870; -. DR EuPathDB; HostDB:ENSG00000164929.16; -. DR GeneCards; BAALC; -. DR HGNC; HGNC:14333; BAALC. DR HPA; HPA027132; -. DR HPA; HPA068307; -. DR MIM; 606602; gene. DR neXtProt; NX_Q8WXS3; -. DR OpenTargets; ENSG00000164929; -. DR PharmGKB; PA25230; -. DR GeneTree; ENSGT00390000013853; -. DR HOGENOM; HOG000253947; -. DR HOVERGEN; HBG080887; -. DR InParanoid; Q8WXS3; -. DR OMA; QAYLKVC; -. DR OrthoDB; 1437892at2759; -. DR PhylomeDB; Q8WXS3; -. DR TreeFam; TF330767; -. DR SIGNOR; Q8WXS3; -. DR ChiTaRS; BAALC; human. DR GenomeRNAi; 79870; -. DR PRO; PR:Q8WXS3; -. DR Proteomes; UP000005640; Chromosome 8. DR Bgee; ENSG00000164929; Expressed in 144 organ(s), highest expression level in hypothalamus. DR CleanEx; HS_BAALC; -. DR Genevisible; Q8WXS3; HS. DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW. DR GO; GO:0005737; C:cytoplasm; IDA:MGI. DR GO; GO:0005829; C:cytosol; IDA:HPA. DR GO; GO:0045121; C:membrane raft; IEA:UniProtKB-SubCell. DR GO; GO:0043005; C:neuron projection; IEA:UniProtKB-SubCell. DR GO; GO:0005634; C:nucleus; IDA:HPA. DR GO; GO:0014069; C:postsynaptic density; IEA:UniProtKB-SubCell. DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-KW. DR InterPro; IPR009728; BAALC. DR PANTHER; PTHR14731; PTHR14731; 1. DR Pfam; PF06989; BAALC_N; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Cell junction; Cell membrane; Complete proteome; KW Cytoplasm; Lipoprotein; Membrane; Myristate; Palmitate; Polymorphism; KW Postsynaptic cell membrane; Reference proteome; Synapse; Synaptosome. 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 //