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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAALC Gene

protein-coding   GIFtS: 54
GCID: GC08P104152

Brain And Acute Leukemia, Cytoplasmic

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Brain And Acute Leukemia, Cytoplasmic1 2
Brain And Acute Leukemia Cytoplasmic Protein2

External Ids:    HGNC: 143331   Entrez Gene: 798702   Ensembl: ENSG000001649297   OMIM: 6066025   UniProtKB: Q8WXS33   

Export aliases for BAALC gene to outside databases

Previous GC identifers: GC08P103158 GC08P104221 GC08P103821 GC08P104109 GC08P104222 GC08P099353


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAALC Gene:
This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is
conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the
neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been
described for this gene; however, some of the transcript variants are found only in AML cell lines. (provided by
RefSeq, Jul 2008)

GeneCards Summary for BAALC Gene: 
BAALC (brain and acute leukemia, cytoplasmic) is a protein-coding gene. Diseases associated with BAALC include mn1, and acute leukemia.

UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3
Function: May play a synaptic role at the postsynaptic lipid rafts by interacting with CAMK2A (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAALC gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAALC promoter sequence
   Search SABiosciences Chromatin IP Primers for BAALC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAALC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.3   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q22.3

BAALC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAALC gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P104152:  view genomic region     (about GC identifiers)

Start:
104,152,921 bp from pter      End:
104,242,533 bp from pter
Size:
89,613 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3 (See protein sequence)
Recommended Name: Brain and acute leukemia cytoplasmic protein  
Size: 180 amino acids; 19224 Da
Subunit: Interacts with CAMK2A (By similarity)
Subcellular location: Cytoplasm. Membrane. Note=Postsynaptic lipid rafts (By similarity)
Secondary accessions: Q8WTP6 Q8WXS0 Q8WXS1 Q8WXS2 Q9HA93
Alternative splicing: 6 isoforms:  Q8WXS3-1   Q8WXS3-2   Q8WXS3-3   Q8WXS3-4   Q8WXS3-5   Q8WXS3-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BAALC: NX_Q8WXS3

Explore proteomics data for BAALC at MOPED 

Post-translational modifications:

  • UniProtKB: Palmitoylation and myristoylation target the protein to the lipid rafts (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WXS3

  • BAALC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BAALC Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001019543.1  NP_079088.1  

    ENSEMBL proteins: 
     ENSP00000312457   ENSP00000395024   ENSP00000297574   ENSP00000302559   ENSP00000331579  

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    Cloud-Clone Corp. Proteins for BAALC 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0016020membrane IEA--

    BAALC for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR009728 BAALC

    Graphical View of Domain Structure for InterPro Entry Q8WXS3

    ProtoNet protein and cluster: Q8WXS3


    BAALC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAALC_HUMAN, Q8WXS3
    Function: May play a synaptic role at the postsynaptic lipid rafts by interacting with CAMK2A (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for BAALC:

     High actin ratio cells 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BAALC

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BAALC (Q8WXS32, 3 ENSP000003124574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997502, 3, ENSP000002303214MINT-67748 I2D: score=5 STRING: ENSP00000230321
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAALC

    Search CenterWatch for drugs/clinical trials and news about BAALC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAALC gene (2 alternative transcripts): 
    NM_001024372.1  NM_024812.2  

    Unigene Cluster for BAALC:

    Brain and acute leukemia, cytoplasmic
    Hs.533446  [show with all ESTs]
    Unigene Representative Sequence: NM_024812
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309982(uc003yld.3 uc003yle.3) ENST00000438105(uc010mcc.3)
    ENST00000297574 ENST00000306391 ENST00000330955 ENST00000519507 ENST00000517863
    ENST00000523754 ENST00000521926
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    SwitchGear 3'UTR luciferase reporter plasmidBAALC 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF371319.1 AF371323.1 AK022077.1 AK093819.1 AK310816.1 BC011517.1 BC014365.1 BC035038.2 

    10 DOTS entries:

    DT.443046  DT.95092573  DT.91918803  DT.100778235  DT.121479093  DT.121479250  DT.426517  DT.95092568 
    DT.95092571  DT.95092599 

    24/227 AceView cDNA sequences (see all 227):

    Z39553 F02839 CB054175 F04032 BQ575423 BQ447214 F03529 BM682059 
    AI361572 F04812 BM509802 F02877 AI819622 AI186236 R38507 AI869984 
    R40778 CA416942 AW149362 CB153952 Z44866 T33437 AI356854 BQ883985 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BAALC    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:              -     -     -     -                     
    SP2:                          -                           
    SP3:              -     -                                 
    SP4:                          -     -                     


    ECgene alternative splicing isoforms for BAALC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAALC expression in normal human tissues (normalized intensities)      BAALC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTATGAG
    BAALC Expression
    About this image


    BAALC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Fetal Neuronal Stem Cells (NSC)   
             Subthalamic Nucleus   
     
     Bone (Muscoskeletal System)
             Human fetal bone marrow-derived mesenchymal stromal cells
     
     Fibroblast
             Detroit 551
     
     Uncategorized (Uncategorized)
             PureStem Progenitor EN7
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle

    See BAALC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAALC

    SOURCE GeneReport for Unigene cluster: Hs.533446

    UniProtKB/Swiss-Prot: BAALC_HUMAN, Q8WXS3
    Tissue specificity: Expressed by neural and hematopoietic cells. Expression is found both in normal early
    progenitor cells and in the most immature type of blasts in acute leukemia but not in mature hematopoietic cells.
    Isoform 2 and isoform 6 are expressed in the brain. Isoform 2 shows a low expression in neuroectoderm-derived
    tissues such as adrenal gland and no expression in bone marrow, peripheral blood lymphocytes or lymph nodes, or
    in tumors or cancer cell lines of nonneural tissue origin

        SABiosciences Expression via Pathway-Focused PCR Array including BAALC: 
              Leukemia in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BAALC gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baalc1 , 5 brain and acute leukemia, cytoplasmic1, 5 86.44(n)1
    83.45(a)1
      15 (15.18 cM)5
    1184521  NM_080640.41  NP_542371.11 
     389331425 
    chicken
    (Gallus gallus)
    Aves BAALC1 brain and acute leukemia, cytoplasmic 66.18(n)
    56.52(a)
      420261  XM_418371.3  XP_418371.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BAALC (1 of 2)6
    BAALC (2 of 2)6
    brain and acute leukemia, cytoplasmic
    32(a)
    29(a)
    many → 1
    many → 1
    20(19651995-19662538)
    16(56374765-56380372)


    ENSEMBL Gene Tree for BAALC (if available)
    TreeFam Gene Tree for BAALC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1476 SNPs in BAALC are shown (see all 1476)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413480771,2
    --104155586(+) AACAGC/TCCCCA 2 -- int10--------
    rs1839397591,2
    --104155655(+) TTCTGA/GTGGGA 2 -- int10--------
    rs13911181,2
    C,F,A,H--104155852(+) TTTACC/TCTCAG 2 -- int124Minor allele frequency- T:0.28NS EA NA WA 2474
    rs1886178411,2
    --104155959(+) CTAGGC/GGAGAA 2 -- int10--------
    rs1807503641,2
    --104155975(+) TTCATA/CTTTGC 2 -- int10--------
    rs13536291,2
    C,F,A,H--104155996(+) CTGAAC/TACATC 2 -- int111Minor allele frequency- T:0.27EA NS WA NA CSA 651
    rs625276081,2
    F--104156001(+) CACATC/GTGGGA 2 -- int12Minor allele frequency- G:0.11NA 122
    rs1836230561,2
    --104156037(+) GATGCG/TCTGTC 2 -- int10--------
    rs625276091,2
    C,F--104156038(+) ATGCTC/GTGTCT 2 -- int12Minor allele frequency- G:0.04NA 122
    rs1503685641,2
    C--104156141(+) TTAGCC/GTGAAT 2 -- int10--------

    HapMap Linkage Disequilibrium report for BAALC (104152921 - 104242533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BAALC:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678140CNV Deletion23128226
    nsv831413CNV Gain17160897
    esv21700CNV Gain19812545


    Human Gene Mutation Database (HGMD): BAALC
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606602    OMIM disorders: --

    9 diseases for BAALC:    About MalaCards
    mn1    acute leukemia    acute myeloid leukemia    myeloid leukemia
    leukemia    chronic myeloid leukemia    acute lymphoblastic leukemia    lymphoblastic leukemia
    myelodysplastic syndromes

    1 disease from the University of Copenhagen DISEASES database for BAALC:
    Leukemia

    BAALC for disorders           About GeneDecksing

    Genetic Association Database (GAD): BAALC

    Export disorders for BAALC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BAALC gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with BAALC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia. (PubMed id 11707601)1, 2, 3 Tanner S.M.... de La Chapelle A. (2001)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (2013)
    5. In acute promyelocytic leukemia (APL) low BAALC gene e xpression identifies a patient group with favorable overall survival and improve d relapse free survival. (PubMed id 23287429)1 Nolte F....Lengfelder E. (2013)
    6. Prognostic implication of BAALC gene expression in adu lt acute myeloid leukemia. (PubMed id 23865362)1 Yahya R.S....Sharaf-Eldein M.A. (2013)
    7. miR-3151 interplays with its host gene BAALC and indep endently affects outcome of patients with cytogenetically normal acute myeloid l eukemia. (PubMed id 22529287)1 Eisfeld A.K....Bloomfield C.D. (2012)
    8. Histone post-translational modifications associated to BAALC expression in leukemic cells. (PubMed id 22197554)1 Franzoni A....Damante G. (2012)
    9. Prognostic significance of combined MN1, ERG, BAALC, a nd EVI1 (MEBE) expression in patients with myelodysplastic syndromes. (PubMed id 22488406)1 Thol F....Heuser M. (2012)
    10. Heritable polymorphism predisposes to high BAALC expre ssion in acute myeloid leukemia. (PubMed id 22493267)1 Eisfeld A.K....de la Chapelle A. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79870 HGNC: 14333 AceView: BAALC Ensembl:ENSG00000164929 euGenes: HUgn79870
    ECgene: BAALC H-InvDB: BAALC

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for BAALC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAALC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BAALC gene:
    Search GeneIP for patents involving BAALC

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