• Gene id: 79870

Gene Summary

• Gene Symbol: BAALC   Gene   UCSC   Ensembl
• Gene name: BAALC binder of MAP3K1 and KLF4
• Alternate names: brain and acute leukemia cytoplasmic protein, BAALC, MAP3K1 and KLF4 binding, BAALC, MEKK1 and KLF4 binding, brain and acute leukemia, cytoplasmic,
• Gene location: 8q22.3 (103140724: 103230304)     Exons: 5     NC_000008.11
• Gene summary(Entrez): 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 alternative
• OMIM: 606602

SNPs

rs7867029

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

Protein Summary

• Protein general information: Q8WXS3  
  • Name: Brain and acute leukemia cytoplasmic protein
  • Length: 180  
  • Mass: 19224
  • 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 mononu
• Sequence:

  MGCGGSRADAIEPRYYESWTRETESTWLTYTDSDAPPSAAAPDSGPEAGGLHSVLEAEKSKIKAPTDSVSDEGLF
  SASKMAPLAVFSHGMLEDGLPSNGVPRSTAPGGIPNPEKKTNCETQCPNPQSLSSGPLTQKQNGLQTTEAKRDAK
  RMPAKEVTINVTDSIQQMDRSRRITKNCVN

• Structural information:
  • Interpro: IPR009728  
• Other Databases: GeneCards:  BAALC  Malacards:  BAALC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray