BCL9
B-cell CLL/lymphoma 9 protein
Also known as: BCL9_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00512
- Gene
- BCL9
- Ensembl
- ENSG00000116128
- Chromosome
- 1
- Canonical length
- 1426 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1426 residues, UniProt reviewed canonical sequence.
>O00512|BCL9
1 MHSSNPKVRS SPSGNTQSSP KSKQEVMVRP PTVMSPSGNP QLDSKFSNQG KQGGSASQSQ
61 PSPCDSKSGG HTPKALPGPG GSMGLKNGAG NGAKGKGKRE RSISADSFDQ RDPGTPNDDS
121 DIKECNSADH IKSQDSQHTP HSMTPSNATA PRSSTPSHGQ TTATEPTPAQ KTPAKVVYVF
181 STEMANKAAE AVLKGQVETI VSFHIQNISN NKTERSTAPL NTQISALRND PKPLPQQPPA
241 PANQDQNSSQ NTRLQPTPPI PAPAPKPAAP PRPLDRESPG VENKLIPSVG SPASSTPLPP
301 DGTGPNSTPN NRAVTPVSQG SNSSSADPKA PPPPPVSSGE PPTLGENPDG LSQEQLEHRE
361 RSLQTLRDIQ RMLFPDEKEF TGAQSGGPQQ NPGVLDGPQK KPEGPIQAMM AQSQSLGKGP
421 GPRTDVGAPF GPQGHRDVPF SPDEMVPPSM NSQSGTIGPD HLDHMTPEQI AWLKLQQEFY
481 EEKRRKQEQV VVQQCSLQDM MVHQHGPRGV VRGPPPPYQM TPSEGWAPGG TEPFSDGINM
541 PHSLPPRGMA PHPNMPGSQM RLPGFAGMIN SEMEGPNVPN PASRPGLSGV SWPDDVPKIP
601 DGRNFPPGQG IFSGPGRGER FPNPQGLSEE MFQQQLAEKQ LGLPPGMAME GIRPSMEMNR
661 MIPGSQRHME PGNNPIFPRI PVEGPLSPSR GDFPKGIPPQ MGPGRELEFG MVPSGMKGDV
721 NLNVNMGSNS QMIPQKMREA GAGPEEMLKL RPGGSDMLPA QQKMVPLPFG EHPQQEYGMG
781 PRPFLPMSQG PGSNSGLRNL REPIGPDQRT NSRLSHMPPL PLNPSSNPTS LNTAPPVQRG
841 LGRKPLDISV AGSQVHSPGI NPLKSPTMHQ VQSPMLGSPS GNLKSPQTPS QLAGMLAGPA
901 AAASIKSPPV LGSAAASPVH LKSPSLPAPS PGWTSSPKPP LQSPGIPPNH KAPLTMASPA
961 MLGNVESGGP PPPTASQPAS VNIPGSLPSS TPYTMPPEPT LSQNPLSIMM SRMSKFAMPS
1021 STPLYHDAIK TVASSDDDSP PARSPNLPSM NNMPGMGINT QNPRISGPNP VVPMPTLSPM
1081 GMTQPLSHSN QMPSPNAVGP NIPPHGVPMG PGLMSHNPIM GHGSQEPPMV PQGRMGFPQG
1141 FPPVQSPPQQ VPFPHNGPSG GQGSFPGGMG FPGEGPLGRP SNLPQSSADA ALCKPGGPGG
1201 PDSFTVLGNS MPSVFTDPDL QEVIRPGATG IPEFDLSRII PSEKPSQTLQ YFPRGEVPGR
1261 KQPQGPGPGF SHMQGMMGEQ APRMGLALPG MGGPGPVGTP DIPLGTAPSM PGHNPMRPPA
1321 FLQQGMMGPH HRMMSPAQST MPGQPTLMSN PAAAVGMIPG KDRGPAGLYT HPGPVGSPGM
1381 MMSMQGMMGP QQNIMIPPQM RPRGMAADVG MGGFSQGPGN PGNMMFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCL9 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)
- 0.66
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 16 nTPM
- endometrium: 14 nTPM
- epididymis: 14 nTPM
- smooth muscle: 14 nTPM
- ovary: 12 nTPM
- seminal vesicle: 11 nTPM
Single-cell type
- distal convoluted tubule cells: 90 nCPM
- renal collecting duct intercalated cells: 84 nCPM
- renal connecting tubule cells: 82 nCPM
- myonuclei: 72 nCPM
- cardiomyocytes: 67 nCPM
- corticotrophs: 65 nCPM
Immune cell
- naive CD4 T-cell: 0.5 nTPM
- naive CD8 T-cell: 0.3 nTPM
- gdT-cell: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
- memory CD8 T-cell: 0.2 nTPM
- T-reg: 0.2 nTPM
Brain region
- cerebellum: 22 nTPM
- hypothalamus: 22 nTPM
- cerebral cortex: 21 nTPM
- medulla oblongata: 20 nTPM
- amygdala: 20 nTPM
- hippocampal formation: 19 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)
- 0.38
- gnomAD pLI
- 0.5
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- canonical Wnt signaling pathway
- myoblast differentiation
- myotube differentiation involved in skeletal muscle regeneration
- positive regulation of transcription by RNA polymerase II
- skeletal muscle cell differentiation
- somatic stem cell population maintenance
- transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCL9 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 BCL9 as an antibody target. Whether an autoantibody or antibody against BCL9 could matter depends on whether native BCL9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCL9 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 BCL9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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