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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
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 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
- HGNC(14333)
- Entrez Gene(79870)
- Ensembl(ENSG00000164929)
- OMIM(606602)
- UniProtKB(Q8WXS3)
- Open Targets Platform(ENSG00000164929)
- Search for BAALC at DataMed
- Search for BAALC at HumanCyc
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
- 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
Genomic Locations for BAALC Gene
- chr8:103,140,713-103,230,305
- (GRCh38/hg38)
- Size:
- 89,593 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 HGNC
- 8q22.3 by Entrez Gene
- 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
- Creative Diagnostics Anti-BAALC monoclonal antibody, clone 8.4_2F21
-
Custom Antibody ServicesOriGene Antibodies for BAALC
- Novus Biologicals Antibodies for BAALC
-
Abcam antibodies for BAALC
- Invitrogen Antibodies for BAALC (AFLGC-BAALC)
-
Boster Bio Antibodies for BAALC
-
Santa Cruz Biotechnology (SCBT) Antibodies for BAALC
Protein Products
-
OriGene Purified Proteins for BAALC
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Quality Products:
-
Signalway Proteins for BAALC
-
Abcam proteins for BAALC
Assay Products
- antibodies-online: Show 7 available BAALC Elisa Kits ranked by validation data
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-
Quality Products:
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
Suggested Antigen Peptide Sequences for BAALC Gene
- GenScript: Design optimal peptide antigens:
-
- Brain and acute leukemia cytoplasmic protein (BAALC_HUMAN)
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
Phenotypes for BAALC Gene
- GenomeRNAi human phenotypes for BAALC:
Animal Model Products
-
Taconic Biosciences Mouse Models for BAALC
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BAALC - Select products 50% OFF >
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miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for BAALC
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 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 | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Cytosol (3)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for BAALC Gene
Interacting Proteins for BAALC Gene
Selected Interacting proteins:
Q8WXS3-BAALC_HUMAN
ENSP00000312457
for BAALC Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BAALC
No data available for Pathways by source for BAALC Gene
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 :
-
- ENST00000309982 2817 nts (view in UCSC)
- ENST00000438105 2662 nts (view in UCSC)
- ENST00000297574 801 nts (view in UCSC)
- ENST00000306391 243 nts (view in UCSC)
- ENST00000330955 222 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BAALC - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BAALC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BAALC
-
Santa Cruz Biotechnology (SCBT) CRISPR for BAALC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BAALC
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Clone Products
- Applied Biological Materials (abm): Clones for BAALC - Select products 50% OFF >
- * BAALC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- 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: | - | - |
Relevant External Links for BAALC Gene
- GeneLoc Exon Structure for
- BAALC
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAALC
SOURCE 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)
- Bone marrow(2.4)
Primer Products
-
OriGene qPCR primer pairs for BAALC
-
OriGene qPCR primer pairs and template standards for BAALC
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BAALC 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BAALC 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Baalc 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Baalc 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BAALC 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BAALC 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | baalc 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | BAALC 31 |
|
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
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.Ser164Thr |
| 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 |
|
|
| myeloid leukemia |
|
|
| childhood acute myeloid leukemia |
|
|
| acute promyelocytic leukemia |
|
|
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
- Open Targets Platform
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
- BAALC potentiates oncogenic ERK pathway through interactions with MEKK1 and KLF4. (PMID: 26050649) Morita K … Kurokawa M (Leukemia 2015) 2 3
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 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
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
ExternalLinks
Products for BAALC Gene
- Custom Antibody ServicesOriGene Antibodies for BAALC
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- Browse Antibodies
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- Browse Primary Antibodies
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- Genetically Engineered Models Available Immediately
- Humanized Mice
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- VectorBuilder Custom and pre-made DNA vectors for BAALC (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 6 available BAALC Antibodies ranked by validation data
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- antibodies-online: Show 8 available BAALC Proteins ranked by validation data
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- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for BAALC
- Browse Boster Bio ELISA Kits
- Signalway Proteins for BAALC
Sources for BAALC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB