BAALC Gene (Protein Coding)

BAALC Binder Of MAP3K1 And KLF4

GC08P103141
GIFtS:
37
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 transcr... See more...

Aliases for BAALC Gene

Aliases for BAALC Gene

  • BAALC Binder Of MAP3K1 And KLF4 2 3 5
  • Brain And Acute Leukemia Cytoplasmic Protein 3 4
  • Brain And Acute Leukemia, Cytoplasmic 2 3
  • BAALC, MAP3K1 And KLF4 Binding 2 3
  • BAALC, MEKK1 And KLF4 Binding 2 3

External Ids for BAALC Gene

Previous GeneCards Identifiers for BAALC Gene

  • GC08P103158
  • GC08P104221
  • GC08P103821
  • GC08P104109
  • GC08P104222
  • GC08P104152
  • GC08P099353

Summaries for BAALC Gene

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 (BAALC Binder Of MAP3K1 And KLF4) is a Protein Coding gene. Diseases associated with BAALC include Acute Leukemia and Leukemia.

UniProtKB/Swiss-Prot Summary for BAALC Gene

  • May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.

Additional gene information for BAALC Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAALC Gene

Genomics for BAALC Gene

GeneHancer (GH) Regulatory Elements for BAALC Gene

Promoters and enhancers for BAALC Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J103140 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 756.9 +0.3 308 2 ZNF524 EZH2 SCRT2 ZBTB17 POLR2A ZFHX2 ZNF366 MTA1 ZNF398 SP3 BAALC BAALC-AS2 LINC01181
GH08J103138 Enhancer 0.6 Ensembl ENCODE dbSUPER 756.9 -1.8 -1785 1.4 CREM BAALC BAALC-AS2 MTCO2P4 lnc-ATP6V1C1-5 LINC01181
GH08J102235 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.6 -902.2 -902204 5 SP1 ZBTB40 SREBF1 SMARCE1 RBPJ POLR2A MIXL1 MYC ETV6 ELF1 RRM2B UBR5-AS1 lnc-UBR5-5 UBR5 BAALC ENSG00000272037 ATP6V1C1 KLF10 RF00876-028 RF00017-7235
GH08J103207 Enhancer 0.9 Ensembl ENCODE 11.2 +68.2 68151 4.1 CTCF TCF7L2 RAD21 CEBPG SP7 ZNF644 FOSL2 PKNOX1 CREB1 POLR2A ENSG00000253851 BAALC BAALC-AS2 LINC01181 FZD6 piR-49097-104 piR-31292-202 BAALC-AS1
GH08J103119 Enhancer 1.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.8 -19.3 -19292 5.6 PKNOX1 RNF2 GATA3 SIX4 ZNF24 LINC01181 BAALC-AS2 ENSG00000253851 BAALC FZD6 MTCO2P4 lnc-ATP6V1C1-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAALC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BAALC gene promoter:
  • AML1a

Genomic Locations for BAALC Gene

Genomic Locations for BAALC Gene
chr8:103,140,693-103,230,305
(GRCh38/hg38)
Size:
89,613 bases
Orientation:
Plus strand
chr8:104,152,921-104,242,533
(GRCh37/hg19)
Size:
89,613 bases
Orientation:
Plus strand

Genomic View for BAALC Gene

Genes around BAALC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAALC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAALC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BAALC Gene

Proteins for BAALC Gene

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  • Protein details for BAALC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXS3-BAALC_HUMAN
    Recommended name:
    Brain and acute leukemia cytoplasmic protein
    Protein Accession:
    Q8WXS3
    Secondary Accessions:
    • Q8WTP6
    • Q8WXS0
    • Q8WXS1
    • Q8WXS2
    • Q9HA93

    Protein attributes for BAALC Gene

    Size:
    180 amino acids
    Molecular mass:
    19224 Da
    Quaternary structure:
    • Interacts with CAMK2A.

    Alternative splice isoforms for BAALC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAALC Gene

Protein Expression for BAALC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BAALC Gene

  • Palmitoylation and myristoylation target the protein to the lipid rafts.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BAALC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BAALC Gene

Domains & Families for BAALC Gene

Gene Families for BAALC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BAALC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BAALC Gene

GenScript: Design optimal peptide antigens:
  • Brain and acute leukemia cytoplasmic protein (BAALC_HUMAN)
genes like me logo Genes that share domains with BAALC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BAALC Gene

Function for BAALC Gene

Products:

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  2. CRISPR
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Molecular function for BAALC Gene

UniProtKB/Swiss-Prot Function:
May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.

Phenotypes From GWAS Catalog for BAALC Gene

Phenotypes for BAALC Gene

GenomeRNAi human phenotypes for BAALC:
genes like me logo Genes that share phenotypes with BAALC: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BAALC

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BAALC Gene

Localization for BAALC Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAALC Gene

Cytoplasm. Cell junction, synapse, synaptosome. Membrane raft. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=In neurons, localizes to postsynaptic lipid rafts (By similarity). In myocardial and skeletal muscle cells, localizes to the cytoplasm adjacent to the inner cell membrane, polarized to one end of the myocyte (By similarity). {ECO:0000250 UniProtKB:Q8VHV1, ECO:0000250 UniProtKB:Q920K5}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAALC gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 3
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA 11707601
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with BAALC: view

Pathways & Interactions for BAALC Gene

PathCards logo

SuperPathways for BAALC Gene

No Data Available

SIGNOR curated interactions for BAALC Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BAALC Gene

None

No data available for Pathways by source for BAALC Gene

Drugs & Compounds for BAALC Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for BAALC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BAALC Gene

(3) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(227) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BAALC Gene

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

Relevant External Links for BAALC Gene

GeneLoc Exon Structure for
BAALC
ECgene alternative splicing isoforms for
BAALC

Expression for BAALC Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAALC Gene

mRNA expression in normal human tissues for BAALC Gene
mRNA expression by GTEx for BAALC GenemRNA expression by BioGPS for BAALC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAALC Gene

This gene is overexpressed in Brain - Cortex (x5.1), Brain - Putamen (basal ganglia) (x5.1), Brain - Frontal Cortex (BA9) (x5.0), Brain - Anterior cingulate cortex (BA24) (x4.8), Brain - Caudate (basal ganglia) (x4.7), Brain - Amygdala (x4.4), Brain - Hippocampus (x4.2), and Brain - Substantia nigra (x4.0).

Protein differential expression in normal tissues from HIPED for BAALC Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BAALC Gene



Protein tissue co-expression partners for BAALC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BAALC Gene:

BAALC

SOURCE GeneReport for Unigene cluster for BAALC Gene:

Hs.533446

mRNA Expression by UniProt/SwissProt for BAALC Gene:

Q8WXS3-BAALC_HUMAN
Tissue specificity: Predominantly expressed in neuroectoderm-derived tissues. Expressed in the brain and spinal cord, and at low levels, in the adrenal gland. In the bone marrow, confined to the CD34+ progenitor cells. Not found in peripheral blood mononuclear cells, nor lymph nodes. Tends to be expressed at high levels in acute myeloid leukemia and glioblastoma cells.

Evidence on tissue expression from TISSUES for BAALC Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with BAALC: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BAALC Gene

Orthologs for BAALC Gene

This gene was present in the common ancestor of chordates.

Orthologs for BAALC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BAALC 33 32
  • 96.4 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia BAALC 33 32
  • 90.57 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BAALC 33 32
  • 90.57 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Baalc 32
  • 87.13 (n)
mouse
(Mus musculus)
 Mammalia Baalc 17 33 32
  • 86.44 (n)
oppossum
(Monodelphis domestica)
 Mammalia BAALC 33
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BAALC 33 32
  • 66.18 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia baalc 32
  • 57.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii BAALC 33
  • 32 (a)
 OneToOne
Species where no ortholog for BAALC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAALC Gene

ENSEMBL:
Gene Tree for BAALC (if available)
TreeFam:
Gene Tree for BAALC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAALC: view image

Paralogs for BAALC Gene

No data available for Paralogs for BAALC Gene

Variants for BAALC Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for BAALC Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000065587 -- 103,167,687(+) G/T intron_variant
rs1000069622 -- 103,210,364(+) A/G intron_variant
rs1000074546 -- 103,175,406(+) T/C intron_variant
rs1000155386 -- 103,150,302(+) G/C intron_variant
rs1000181788 -- 103,149,405(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BAALC Gene

Variant ID Type Subtype PubMed ID
esv21700 CNV gain 19812545
esv2678140 CNV deletion 23128226
nsv1017326 CNV gain 25217958
nsv831413 CNV gain 17160897

Variation tolerance for BAALC Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAALC Gene

Human Gene Mutation Database (HGMD)
BAALC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAALC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAALC Gene

Disorders for BAALC Gene

MalaCards: The human disease database

(4) MalaCards diseases for BAALC Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acute leukemia
  • stem cell leukaemia
leukemia
  • leukemias
myeloid leukemia
  • leukemia myelogenous
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards
Search BAALC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAALC

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BAALC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAALC Gene

Publications for BAALC Gene

  1. BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia. (PMID: 11707601) Tanner SM … de La Chapelle A (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 56
  2. BAALC potentiates oncogenic ERK pathway through interactions with MEKK1 and KLF4. (PMID: 26050649) Morita K … Kurokawa M (Leukemia 2015) 2 3 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. BAALC and ERG expression levels at diagnosis have no prognosis impact on acute myeloid leukemia patients undergoing allogeneic hematopoietic stem cell transplantation. (PMID: 29696374) Zhang J … Fu L (Annals of hematology 2018) 3 56

ExternalLinks

View latest publications for BAALC gene in Mastermind

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