ID BAALC_HUMAN Reviewed; 145 AA. AC Q8WXS3; Q8WTP6; Q8WXS0; Q8WXS1; Q8WXS2; Q9HA93; DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot. DT 07-OCT-2020, sequence version 4. DT 07-APR-2021, entry version 125. DE RecName: Full=Brain and acute leukemia cytoplasmic protein {ECO:0000303|PubMed:11707601}; GN Name=BAALC {ECO:0000303|PubMed:11707601}; 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 [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), RP 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., Caligiuri M.A., RA Bloomfield C.D., de La Chapelle A.; RT "BAALC, the human member of a novel mammalian neuroectoderm gene lineage, RT 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 1). 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., 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 MRNA] (ISOFORMS 1 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 project: RT 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 -!- INTERACTION: CC Q8WXS3-2; P41227: NAA10; NbExp=5; IntAct=EBI-13079214, EBI-747693; CC Q8WXS3-2; Q9BSU3: NAA11; NbExp=3; IntAct=EBI-13079214, EBI-2585120; CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11707601}. Cell CC junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q920K5}. Membrane CC raft {ECO:0000250|UniProtKB:Q920K5}. Cell junction, synapse, CC postsynaptic density {ECO:0000250|UniProtKB:Q920K5}. Note=In neurons, CC localizes to postsynaptic lipid rafts (By similarity). In myocardial CC and 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=1-6-8 {ECO:0000303|PubMed:11707601}; CC IsoId=Q8WXS3-2; Sequence=Displayed; CC Name=2; Synonyms=1-5-6-8 {ECO:0000303|PubMed:11707601}; CC IsoId=Q8WXS3-1; Sequence=VSP_060712; CC Name=3; Synonyms=1-5-6-7-8 {ECO:0000303|PubMed:11707601}; CC IsoId=Q8WXS3-3; Sequence=VSP_060712, VSP_060718, VSP_060719; CC Name=4; Synonyms=1-2 {ECO:0000303|PubMed:11707601}; CC IsoId=Q8WXS3-4; Sequence=VSP_060713, VSP_060717; CC Name=5; Synonyms=1-4-5-6-8 {ECO:0000303|PubMed:11707601}; CC IsoId=Q8WXS3-5; Sequence=VSP_060715, VSP_060716; CC Name=6; Synonyms=1-8 {ECO:0000303|PubMed:11707601}; CC IsoId=Q8WXS3-6; Sequence=VSP_060714; CC -!- TISSUE SPECIFICITY: Predominantly expressed in neuroectoderm-derived CC tissues. Expressed in the brain and spinal cord, and at low levels, in CC the adrenal gland. In the bone marrow, confined to the CD34+ progenitor CC cells. Not found in peripheral blood mononuclear cells, nor lymph CC nodes. Tends to be expressed at high levels in acute myeloid leukemia CC and glioblastoma cells. {ECO:0000269|PubMed:11707601}. CC -!- PTM: Palmitoylation and myristoylation target the protein to the lipid CC rafts. {ECO:0000250|UniProtKB:Q920K5}. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and CC 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 BioGRID; 122958; 14. DR IntAct; Q8WXS3; 6. DR MINT; Q8WXS3; -. DR iPTMnet; Q8WXS3; -. DR PhosphoSitePlus; Q8WXS3; -. DR BioMuta; BAALC; -. DR DMDM; 74730996; -. DR MassIVE; Q8WXS3; -. DR PeptideAtlas; Q8WXS3; -. DR PRIDE; Q8WXS3; -. DR ProteomicsDB; 75088; -. [Q8WXS3-1] 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 Antibodypedia; 26359; 146 antibodies. 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. [Q8WXS3-2] DR CTD; 79870; -. DR DisGeNET; 79870; -. DR GeneCards; BAALC; -. DR HGNC; HGNC:14333; BAALC. DR HPA; ENSG00000164929; Tissue enriched (brain). DR MIM; 606602; gene. DR neXtProt; NX_Q8WXS3; -. DR OpenTargets; ENSG00000164929; -. DR PharmGKB; PA25230; -. DR VEuPathDB; HostDB:ENSG00000164929.16; -. DR GeneTree; ENSGT00390000013853; -. DR HOGENOM; CLU_135096_0_0_1; -. DR InParanoid; Q8WXS3; -. DR OMA; QAYLKVC; -. DR OrthoDB; 1437892at2759; -. DR PhylomeDB; Q8WXS3; -. DR TreeFam; TF330767; -. DR PathwayCommons; Q8WXS3; -. DR SIGNOR; Q8WXS3; -. DR BioGRID-ORCS; 79870; 4 hits in 988 CRISPR screens. DR ChiTaRS; BAALC; human. DR GenomeRNAi; 79870; -. DR Pharos; Q8WXS3; Tbio. DR PRO; PR:Q8WXS3; -. DR Proteomes; UP000005640; Chromosome 8. DR RNAct; Q8WXS3; protein. DR Bgee; ENSG00000164929; Expressed in hypothalamus and 163 other tissues. DR Genevisible; Q8WXS3; HS. 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-KW. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0014069; C:postsynaptic density; IEA:UniProtKB-SubCell. DR InterPro; IPR009728; BAALC. DR PANTHER; PTHR14731; PTHR14731; 1. DR Pfam; PF06989; BAALC_N; 1. PE 1: Evidence at protein level; KW Alternative splicing; Cell junction; Cytoplasm; Lipoprotein; Membrane; KW Myristate; Palmitate; Reference proteome; Synapse; Synaptosome. FT INIT_MET 1 FT /note="Removed" FT /evidence="ECO:0000250|UniProtKB:Q920K5" FT CHAIN 2..145 FT /note="Brain and acute leukemia cytoplasmic protein" FT /id="PRO_0000248205" FT REGION 3..35 FT /note="Interaction with CAMK2A" FT /evidence="ECO:0000250|UniProtKB:Q920K5" FT LIPID 2 FT /note="N-myristoyl glycine" FT /evidence="ECO:0000250|UniProtKB:Q920K5" FT LIPID 3 FT /note="S-palmitoyl cysteine" FT /evidence="ECO:0000250|UniProtKB:Q920K5" FT VAR_SEQ 53 FT /note="S -> SVLEAEKSKIKAPTDSVSDEGLFSASKMAPLAVFSH (in FT isoform 2 and isoform 3)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060712" FT VAR_SEQ 54..80 FT /note="GMLEDGLPSNGVPRSTAPGGIPNPEKK -> AHYPLAFALAWRDNSLGALLV FT QEGLCR (in isoform 4)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060713" FT VAR_SEQ 55..145 FT /note="Missing (in isoform 6)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060714" FT VAR_SEQ 55..73 FT /note="MLEDGLPSNGVPRSTAPGG -> CLEEHYHLTALQKVGHPNH (in FT isoform 5)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060715" FT VAR_SEQ 74..145 FT /note="Missing (in isoform 5)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060716" FT VAR_SEQ 81..145 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060717" FT VAR_SEQ 110..114 FT /note="AKRDA -> VLLPS (in isoform 3)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060718" FT VAR_SEQ 115..145 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000305|PubMed:11707601" FT /id="VSP_060719" FT VARIANT 129 FT /note="S -> T (in dbSNP:rs34542607)" FT /id="VAR_056741" SQ SEQUENCE 145 AA; 15551 MW; CFB92BBE283DD92E CRC64; MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSGMLEDGL PSNGVPRSTA PGGIPNPEKK TNCETQCPNP QSLSSGPLTQ KQNGLQTTEA KRDAKRMPAK EVTINVTDSI QQMDRSRRIT KNCVN //