BAALC
Brain and acute leukemia cytoplasmic protein
Also known as: BAALC_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WXS3
- Gene
- BAALC
- Ensembl
- ENSG00000164929
- Chromosome
- 8
- Canonical length
- 145 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
145 residues, UniProt reviewed canonical sequence.
>Q8WXS3|BAALC
1 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSGMLEDGL
61 PSNGVPRSTA PGGIPNPEKK TNCETQCPNP QSLSSGPLTQ KQNGLQTTEA KRDAKRMPAK
121 EVTINVTDSI QQMDRSRRIT KNCVNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BAALC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.73
- Highest tissue expression
- 274 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 274 nTPM
- midbrain: 261 nTPM
- cerebral cortex: 243 nTPM
- amygdala: 205 nTPM
- hippocampal formation: 193 nTPM
- hypothalamus: 183 nTPM
Single-cell type
- bergmann glia: 407 nCPM
- astrocytes: 293 nCPM
- oligodendrocyte progenitor cells: 234 nCPM
- thymocytes: 227 nCPM
- müller glia: 130 nCPM
- pituitary stem cells: 119 nCPM
Immune cell
- NK-cell: 3.7 nTPM
- total PBMC: 0.2 nTPM
- memory B-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- thalamus: 449 nTPM
- medulla oblongata: 310 nTPM
- midbrain: 307 nTPM
- spinal cord: 294 nTPM
- pons: 271 nTPM
- hypothalamus: 243 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.55
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.26
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BAALC
- BAALC N-terminus
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BAALC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BAALC as an antibody target. Whether an autoantibody or antibody against BAALC could matter depends on whether native BAALC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BAALC is annotated at the cell surface, where native BAALC is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label BAALC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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