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 12-AUG-2020, entry version 121. 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; 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 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., 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 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 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=1-5-6-8; CC IsoId=Q8WXS3-1; Sequence=Displayed; 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 Name=4; Synonyms=1-2; CC IsoId=Q8WXS3-4; Sequence=VSP_020199, VSP_020200; CC Name=5; Synonyms=1-4-5-6-8; CC IsoId=Q8WXS3-5; Sequence=VSP_020201, VSP_020202; CC Name=6; Synonyms=1-8; CC IsoId=Q8WXS3-6; Sequence=VSP_020203, VSP_020204; 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 SMR; Q8WXS3; -. DR BioGRID; 122958; 11. 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; 145 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. [Q8WXS3-1] DR CTD; 79870; -. DR DisGeNET; 79870; -. DR EuPathDB; HostDB:ENSG00000164929.16; -. 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 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; 1 hit in 874 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-SubCell. 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; Polymorphism; Reference proteome; Synapse; KW Synaptosome. FT INIT_MET 1 FT /note="Removed" FT CHAIN 2..180 FT /note="Brain and acute leukemia cytoplasmic protein" FT /id="PRO_0000248205" FT REGION 4..36 FT /note="Interaction with CAMK2A" FT /evidence="ECO:0000250" FT LIPID 2 FT /note="N-myristoyl glycine" FT /evidence="ECO:0000250" FT LIPID 3 FT /note="S-palmitoyl cysteine" FT /evidence="ECO:0000250" FT VAR_SEQ 54..88 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:11707601, FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334" FT /id="VSP_020196" FT VAR_SEQ 54..80 FT /note="VLEAEKSKIKAPTDSVSDEGLFSASKM -> AHYPLAFALAWRDNSLGALLV FT QEGLCR (in isoform 4)" FT /evidence="ECO:0000303|PubMed:11707601" FT /id="VSP_020199" FT VAR_SEQ 54..73 FT /note="VLEAEKSKIKAPTDSVSDEG -> GCLEEHYHLTALQKVGHPNH (in FT isoform 5)" FT /evidence="ECO:0000303|PubMed:11707601" FT /id="VSP_020201" FT VAR_SEQ 54 FT /note="V -> G (in isoform 6)" FT /evidence="ECO:0000303|PubMed:11707601, FT ECO:0000303|PubMed:15489334" FT /id="VSP_020203" FT VAR_SEQ 55..180 FT /note="Missing (in isoform 6)" FT /evidence="ECO:0000303|PubMed:11707601, FT ECO:0000303|PubMed:15489334" FT /id="VSP_020204" FT VAR_SEQ 74..180 FT /note="Missing (in isoform 5)" FT /evidence="ECO:0000303|PubMed:11707601" FT /id="VSP_020202" FT VAR_SEQ 81..180 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|PubMed:11707601" FT /id="VSP_020200" FT VAR_SEQ 145..149 FT /note="AKRDA -> VLLPS (in isoform 3)" FT /evidence="ECO:0000303|PubMed:11707601" FT /id="VSP_020197" FT VAR_SEQ 150..180 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:11707601" FT /id="VSP_020198" FT VARIANT 164 FT /note="S -> T (in dbSNP:rs34542607)" FT /id="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 //