BAALC_HUMAN
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 03-AUG-2022, entry version 130.
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}. Synapse,
CC synaptosome {ECO:0000250|UniProtKB:Q920K5}. Membrane raft
CC {ECO:0000250|UniProtKB:Q920K5}. Postsynaptic density
CC {ECO:0000250|UniProtKB:Q920K5}. Note=In neurons, localizes to
CC postsynaptic lipid rafts (By similarity). In myocardial and skeletal
CC muscle cells, localizes to the cytoplasm adjacent to the inner cell
CC membrane, polarized to one end of the myocyte (By similarity).
CC {ECO:0000250|UniProtKB:Q8VHV1, 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";
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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 AlphaFoldDB; Q8WXS3; -.
DR BioGRID; 122958; 14.
DR IntAct; Q8WXS3; 6.
DR MINT; Q8WXS3; -.
DR GlyGen; Q8WXS3; 1 site, 1 O-linked glycan (1 site).
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; 151 antibodies from 30 providers.
DR DNASU; 79870; -.
DR Ensembl; ENST00000297574.6; ENSP00000297574.6; ENSG00000164929.17. [Q8WXS3-1]
DR Ensembl; ENST00000306391.10; ENSP00000302559.6; ENSG00000164929.17. [Q8WXS3-4]
DR Ensembl; ENST00000309982.10; ENSP00000312457.5; ENSG00000164929.17. [Q8WXS3-2]
DR Ensembl; ENST00000330955.5; ENSP00000331579.5; ENSG00000164929.17. [Q8WXS3-5]
DR Ensembl; ENST00000438105.2; ENSP00000395024.2; ENSG00000164929.17. [Q8WXS3-6]
DR GeneID; 79870; -.
DR KEGG; hsa:79870; -.
DR MANE-Select; ENST00000309982.10; ENSP00000312457.5; NM_024812.3; NP_079088.1.
DR UCSC; uc003yld.4; human. [Q8WXS3-2]
DR CTD; 79870; -.
DR DisGeNET; 79870; -.
DR GeneCards; BAALC; -.
DR HGNC; HGNC:14333; BAALC.
DR HPA; ENSG00000164929; Group enriched (brain, choroid plexus).
DR MIM; 606602; gene.
DR neXtProt; NX_Q8WXS3; -.
DR OpenTargets; ENSG00000164929; -.
DR PharmGKB; PA25230; -.
DR VEuPathDB; HostDB:ENSG00000164929; -.
DR GeneTree; ENSGT00390000013853; -.
DR HOGENOM; CLU_135096_0_0_1; -.
DR InParanoid; Q8WXS3; -.
DR OMA; PQQDKMS; -.
DR OrthoDB; 1437892at2759; -.
DR PhylomeDB; Q8WXS3; -.
DR TreeFam; TF330767; -.
DR PathwayCommons; Q8WXS3; -.
DR SignaLink; Q8WXS3; -.
DR SIGNOR; Q8WXS3; -.
DR BioGRID-ORCS; 79870; 5 hits in 1070 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 putamen and 136 other tissues.
DR Genevisible; Q8WXS3; HS.
DR GO; GO:0070161; C:anchoring 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-KW.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0014069; C:postsynaptic density; IEA:UniProtKB-SubCell.
DR GO; GO:0016528; C:sarcoplasm; IEA:Ensembl.
DR InterPro; IPR009728; BAALC.
DR PANTHER; PTHR14731; PTHR14731; 1.
DR Pfam; PF06989; BAALC_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Lipoprotein; Membrane; Myristate;
KW 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 REGION 27..119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 79..107
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
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
