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
  • BAALC 5

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.

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 Pubs

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 256.9 +0.3 288 2 TAF1 ZNF398 ZNF366 SP3 EGR2 MTA1 ZBTB17 ZFHX2 EZH2 SCRT2 BAALC BAALC-AS2 LINC01181 FZD6
GH08J103138 Enhancer 0.4 ENCODE dbSUPER 257 -1.8 -1848 1.3 CREM BAALC BAALC-AS2 MTCO2P4 LINC01181 ATP6V1C1
GH08J103119 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.8 -19.3 -19312 5.6 SIX4 PKNOX1 GATA2 NFE2L2 ZNF24 RNF2 LINC01181 BAALC-AS2 ENSG00000253851 BAALC FZD6 MTCO2P4 ATP6V1C1
GH08J103207 Enhancer 1 Ensembl ENCODE 11.2 +68.2 68163 3.3 JUND CEBPA ZNF217 CEBPB CTCF EP300 CTBP1 CUX1 STAT3 TEAD3 ENSG00000253851 BAALC BAALC-AS2 LINC01181 FZD6 piR-49097-104 HSALNG0067505-001 HSALNG0067505-002 BAALC-AS1
GH08J103176 Enhancer 0.5 FANTOM5 Ensembl dbSUPER 16.8 +36.1 36088 0.8 BAALC FZD6 BAALC-AS2 LINC01181 BAALC-AS1 AZIN1 ATP6V1C1 HSALNG0067505-001 piR-49097-104
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAALC

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

Genomic Locations for BAALC Gene

Latest Assembly
chr8:103,140,713-103,230,305
(GRCh38/hg38)
Size:
89,593 bases
Orientation:
Plus strand

Previous Assembly
chr8:104,152,953-104,242,533
(GRCh37/hg19 by Entrez Gene)
Size:
89,581 bases
Orientation:
Plus strand

chr8:104,152,938-104,242,533
(GRCh37/hg19 by Ensembl)
Size:
89,596 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 StructureGene Density

RefSeq DNA sequence for BAALC Gene

Proteins for BAALC Gene

  • 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:
    145 amino acids
    Molecular mass:
    15551 Da
    Quaternary structure:
    • Interacts with CAMK2A.

    Alternative splice isoforms for BAALC Gene

neXtProt entry for BAALC Gene

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

Antibodies for research

  • Abcam antibodies for BAALC
  • Boster Bio Antibodies for BAALC

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:

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

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

Gene Ontology (GO) - Molecular Function for BAALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with BAALC: view

Phenotypes for BAALC Gene

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

Animal Models for research

  • Taconic Biosciences Mouse Models for BAALC

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAALC

No data available for Enzyme Numbers (IUBMB) , 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 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 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for BAALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 11707601
GO:0005829 cytosol IDA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane 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

No Compound Related Data Available

Transcripts for BAALC Gene

mRNA/cDNA for BAALC Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAALC

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

Expression for BAALC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with BAALC: view

Primer products for research

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 29 30
  • 96.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BAALC 29 30
  • 90.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BAALC 29 30
  • 90.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Baalc 29
  • 87.13 (n)
Mouse
(Mus musculus)
Mammalia Baalc 29 16 30
  • 86.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BAALC 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BAALC 29 30
  • 66.18 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia baalc 29
  • 57.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii BAALC 30
  • 32 (a)
OneToOne
Species where no ortholog for BAALC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for BAALC

Paralogs for BAALC Gene

No data available for Paralogs for BAALC Gene

Variants for BAALC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAALC Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs34542607 -- p.Ser129Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BAALC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
BAALC

SNP Genotyping and Copy Number Assays for research

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

Disorders for BAALC Gene

MalaCards: The human disease database

(6) MalaCards diseases for BAALC Gene - From: COP and GCD

Disorder Aliases PubMed IDs
acute leukemia
  • stem cell leukaemia
leukemia
  • leukemias
myeloid leukemia
  • leukaemia myelogenous
childhood acute myeloid leukemia
  • childhood acute myeloid leukaemia
acute promyelocytic leukemia
  • apl
- 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

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
  2. BAALC potentiates oncogenic ERK pathway through interactions with MEKK1 and KLF4. (PMID: 26050649) Morita K … Kurokawa M (Leukemia 2015) 2 3
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for BAALC Gene

Sources for BAALC Gene