CTNNBL1
Beta-catenin-like protein 1
Also known as: C20orf33, CTBL1_HUMAN, FLJ21108, NAP, NYD-SP19, P14, P14L
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WYA6
- Gene
- CTNNBL1
- Ensembl
- ENSG00000132792
- Chromosome
- 20
- Canonical length
- 563 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
563 residues, UniProt reviewed canonical sequence.
>Q8WYA6|CTNNBL1
1 MDVGELLSYQ PNRGTKRPRD DEEEEQKMRR KQTGTRERGR YREEEMTVVE EADDDKKRLL
61 QIIDRDGEEE EEEEEPLDES SVKKMILTFE KRSYKNQELR IKFPDNPEKF MESELDLNDI
121 IQEMHVVATM PDLYHLLVEL NAVQSLLGLL GHDNTDVSIA VVDLLQELTD IDTLHESEEG
181 AEVLIDALVD GQVVALLVQN LERLDESVKE EADGVHNTLA IVENMAEFRP EMCTEGAQQG
241 LLQWLLKRLK AKMPFDANKL YCSEVLAILL QDNDENRELL GELDGIDVLL QQLSVFKRHN
301 PSTAEEQEMM ENLFDSLCSC LMLSSNRERF LKGEGLQLMN LMLREKKISR SSALKVLDHA
361 MIGPEGTDNC HKFVDILGLR TIFPLFMKSP RKIKKVGTTE KEHEEHVCSI LASLLRNLRG
421 QQRTRLLNKF TENDSEKVDR LMELHFKYLG AMQVADKKIE GEKHDMVRRG EIIDNDTEEE
481 FYLRRLDAGL FVLQHICYIM AEICNANVPQ IRQRVHQILN MRGSSIKIVR HIIKEYAENI
541 GDGRSPEFRE NEQKRILGLL ENFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CTNNBL1 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)
- 0.3
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- spleen: 51 nTPM
- liver: 44 nTPM
- testis: 41 nTPM
- bone marrow: 39 nTPM
- tonsil: 39 nTPM
- thymus: 37 nTPM
Single-cell type
- mast cells: 514 nCPM
- megakaryocyte-erythroid progenitors: 461 nCPM
- early spermatids: 411 nCPM
- late primary spermatocytes: 279 nCPM
- cytotrophoblasts: 218 nCPM
- monocytes: 192 nCPM
Immune cell
- basophil: 268 nTPM
- myeloid DC: 110 nTPM
- non-classical monocyte: 110 nTPM
- eosinophil: 104 nTPM
- intermediate monocyte: 103 nTPM
- memory B-cell: 89 nTPM
Brain region
- choroid plexus: 25 nTPM
- white matter: 24 nTPM
- cerebral cortex: 23 nTPM
- medulla oblongata: 23 nTPM
- basal ganglia: 23 nTPM
- midbrain: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CTNNBL1.
Disease | AllUniProt
Conditions CTNNBL1 is implicated in, by any mechanism.
- Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) MIM:619846
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)
- 0.51
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 2.18
- DepMap mean gene effect
- -0.9
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive immune response
- mRNA splicing, via spliceosome
- positive regulation of apoptotic process
- somatic diversification of immunoglobulins
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Armadillo-like helical
- Armadillo-type fold
- Beta-catenin-like protein 1, N-terminal
- Beta-catenin-like protein 1
- Catenin-beta-like, Arm-motif containing nuclear
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CTNNBL1 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 CTNNBL1 as an antibody target. Whether an autoantibody or antibody against CTNNBL1 could matter depends on whether native CTNNBL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CTNNBL1 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.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification.
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