Aliases for BAALC Gene
Aliases for BAALC Gene
External Ids for BAALC Gene
- HGNC: 14333
- Entrez Gene: 79870
- Ensembl: ENSG00000164929
- OMIM: 606602
- UniProtKB: Q8WXS3
Previous GeneCards Identifiers for BAALC Gene
- GC08P103158
- GC08P104221
- GC08P103821
- GC08P104109
- GC08P104222
- GC08P104152
- GC08P099353
Summaries 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, MAP3K1 And KLF4 Binding) is a Protein Coding gene. Diseases associated with BAALC include Acute Leukemia and Leukemia.
UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 | 1.8 | EPDnew Ensembl ENCODE dbSUPER | 650.7 | +0.2 | 208 | 0.6 | SP3 ZNF398 ZFHX2 ZNF366 POLR2A MTA1 SCRT2 ZNF524 ZBTB26 EZH2 | BAALC BAALC-AS2 | |
| GH08J103138 | Enhancer | 0.5 | ENCODE dbSUPER | 657 | -1.8 | -1828 | 1.3 | CREM | BAALC BAALC-AS2 LINC01181 | |
| GH08J103207 | Enhancer | 1 | Ensembl ENCODE | 11.2 | +68.3 | 68271 | 3.2 | PKNOX1 MZF1 BMI1 DNMT3B RAD21 SCRT2 FOS CEBPB GATAD2B ZEB2 | ENSG00000253851 BAALC BAALC-AS2 LINC01181 FZD6 PIR39342 MIR3151 BAALC-AS1 | |
| GH08J103119 | Enhancer | 0.7 | ENCODE dbSUPER | 11.3 | -20.5 | -20485 | 1.5 | SIX4 PKNOX1 GATA3 RNF2 | LINC01181 BAALC-AS2 BAALC FZD6 MTCO2P4 | |
| GH08J103176 | Enhancer | 0.4 | FANTOM5 dbSUPER | 16.8 | +36.1 | 36113 | 0.1 | BAALC BAALC-AS2 LINC01181 BAALC-AS1 FZD6 AZIN1 ATP6V1C1 MIR3151 PIR39342 |
- 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
Regulatory Element Products
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:
-
- 8q22.3 by Entrez Gene
- 8q22.3 by HGNC
- 8q22.3 by Ensembl
BAALC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q8WTP6
- Q8WXS0
- Q8WXS1
- Q8WXS2
- Q9HA93
Protein attributes for BAALC Gene
- Size:
- 180 amino acids
- Molecular mass:
- 19224 Da
- Quaternary structure:
-
- Interacts with CAMK2A.
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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Protein Products
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No data available for DME Specific Peptides for BAALC Gene
Domains & Families for BAALC Gene
Gene Families for BAALC Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for BAALC Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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
Phenotypes for BAALC Gene
- GenomeRNAi human phenotypes for BAALC:
Animal Model Products
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-
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-
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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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
- Cytosol (3)
- Nucleus (2)
| 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 | -- |
Transcripts for BAALC Gene
mRNA/cDNA for BAALC Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (227) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000309982 2831 bps (uc003yld.4)
- ENST00000438105 2662 bps (uc003yle.4)
- ENST00000297574 801 bps (uc064phv.1)
- ENST00000306391 243 bps (uc064phw.1)
- ENST00000330955 222 bps (uc064phx.1)
Unigene Clusters for BAALC Gene
CRISPR Products
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-
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Clone Products
- Sino Biological Human cDNA Clone for BAALC
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| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | - | - | |||||||||||||||
| SP4: | - | - |
Expression for BAALC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Dermis (Integumentary System)
- Fibroblasts
-
Spinal Cord (Nervous System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of BAALC Gene:
BAALCSOURCE GeneReport for Unigene cluster for BAALC Gene:
Hs.533446mRNA 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)
Primer Products
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BAALC 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BAALC 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BAALC 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Baalc 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Baalc 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BAALC 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BAALC 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | baalc 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | BAALC 34 |
|
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
| 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv21700 | CNV | gain | 19812545 |
| esv2678140 | CNV | deletion | 23128226 |
| nsv1017326 | CNV | gain | 25217958 |
| nsv831413 | CNV | gain | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAALC Gene
Disorders for BAALC Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acute leukemia |
|
|
| leukemia |
|
|
| leukemia, acute myeloid |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for BAALC Gene
Publications for BAALC Gene
- 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 58
- BAALC potentiates oncogenic ERK pathway through interactions with MEKK1 and KLF4. (PMID: 26050649) Morita K … Kurokawa M (Leukemia 2015) 2 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
- Feasibility of BAALC gene expression for detection of minimal residual disease and risk stratification in normal karyotype acute myeloid leukaemia. (PMID: 27662611) Weber S … Kern W (British journal of haematology 2016) 3 58
Products for BAALC Gene
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Sources for BAALC Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
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- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
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