BCLAF1
Bcl-2-associated transcription factor 1
Also known as: BCLF1_HUMAN, BTF, KIAA0164
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NYF8
- Gene
- BCLAF1
- Ensembl
- ENSG00000029363
- Chromosome
- 6
- Canonical length
- 920 aa
- Protein class
- Cancer-related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
920 residues, UniProt reviewed canonical sequence.
>Q9NYF8|BCLAF1
1 MGRSNSRSHS SRSKSRSQSS SRSRSRSHSR KKRYSSRSRS RTYSRSRSRD RMYSRDYRRD
61 YRNNRGMRRP YGYRGRGRGY YQGGGGRYHR GGYRPVWNRR HSRSPRRGRS RSRSPKRRSV
121 SSQRSRSRSR RSYRSSRSPR SSSSRSSSPY SKSPVSKRRG SQEKQTKKAE GEPQEESPLK
181 SKSQEEPKDT FEHDPSESID EFNKSSATSG DIWPGLSAYD NSPRSPHSPS PIATPPSQSS
241 SCSDAPMLST VHSAKNTPSQ HSHSIQHSPE RSGSGSVGNG SSRYSPSQNS PIHHIPSRRS
301 PAKTIAPQNA PRDESRGRSS FYPDGGDQET AKTGKFLKRF TDEESRVFLL DRGNTRDKEA
361 SKEKGSEKGR AEGEWEDQEA LDYFSDKESG KQKFNDSEGD DTEETEDYRQ FRKSVLADQG
421 KSFATASHRN TEEEGLKYKS KVSLKGNRES DGFREEKNYK LKETGYVVER PSTTKDKHKE
481 EDKNSERITV KKETQSPEQV KSEKLKDLFD YSPPLHKNLD AREKSTFREE SPLRIKMIAS
541 DSHRPEVKLK MAPVPLDDSN RPASLTKDRL LASTLVHSVK KEQEFRSIFD HIKLPQASKS
601 TSESFIQHIV SLVHHVKEQY FKSAAMTLNE RFTSYQKATE EHSTRQKSPE IHRRIDISPS
661 TLRKHTRLAG EERVFKEENQ KGDKKLRCDS ADLRHDIDRR RKERSKERGD SKGSRESSGS
721 RKQEKTPKDY KEYKSYKDDS KHKREQDHSR SSSSSASPSS PSSREEKESK KEREEEFKTH
781 HEMKEYSGFA GVSRPRGTFF RIRGRGRARG VFAGTNTGPN NSNTTFQKRP KEEEWDPEYT
841 PKSKKYFLHD DRDDGVDYWA KRGRGRGTFQ RGRGRFNFKK SGSSPKWTHD KYQGDGIVED
901 EEETMENNEE KKDRRKEEKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCLAF1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.7
- Highest tissue expression
- 127 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 127 nTPM
- thymus: 33 nTPM
- retina: 32 nTPM
- parathyroid gland: 31 nTPM
- tonsil: 31 nTPM
- breast: 31 nTPM
Single-cell type
- neutrophils: 323 nCPM
- erythrocyte progenitors: 321 nCPM
- neutrophil progenitors: 257 nCPM
- salivary acinar cells: 250 nCPM
- megakaryocyte-erythroid progenitors: 245 nCPM
- salivary myoepithelial cells: 236 nCPM
Immune cell
- neutrophil: 58 nTPM
- NK-cell: 50 nTPM
- myeloid DC: 42 nTPM
- eosinophil: 42 nTPM
- naive CD4 T-cell: 38 nTPM
- memory B-cell: 37 nTPM
Brain region
- cerebellum: 71 nTPM
- cerebral cortex: 66 nTPM
- choroid plexus: 64 nTPM
- hypothalamus: 62 nTPM
- white matter: 61 nTPM
- basal ganglia: 58 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BCLAF1.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 181 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.93
- gnomAD pLI
- 0
- gnomAD missense Z
- -4.36
- DepMap mean gene effect
- -0.63
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cellular response to leukemia inhibitory factor
- DNA damage response
- negative regulation of DNA-templated transcription
- positive regulation of apoptotic process
- positive regulation of DNA-templated transcription initiation
- positive regulation of intrinsic apoptotic signaling pathway
- positive regulation of transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCLAF1 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 BCLAF1 as an antibody target. Whether an autoantibody or antibody against BCLAF1 could matter depends on whether native BCLAF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCLAF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BCLAF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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