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Protein

Beta-catenin-like protein 1

Gene

CTNNBL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis.

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • mRNA splicing, via spliceosome Source: Reactome
  • positive regulation of apoptotic process Source: UniProtKB
  • somatic diversification of immunoglobulins Source: UniProtKB

Keywordsi

Biological processApoptosis, mRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-catenin-like protein 1
Alternative name(s):
Nuclear-associated protein
Short name:
NAP
Testis development protein NYD-SP19
Gene namesi
Name:CTNNBL1
Synonyms:C20orf33
ORF Names:PP8304
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000132792.18
HGNCiHGNC:15879 CTNNBL1
MIMi611537 gene
neXtProtiNX_Q8WYA6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Spliceosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi16 – 33Missing : Nuclear and cytoplasmic localization. 1 PublicationAdd BLAST18
Mutagenesisi521 – 563Missing : No change in NLS binding nor folding. 1 PublicationAdd BLAST43

Organism-specific databases

DisGeNETi56259
OpenTargetsiENSG00000132792
PharmGKBiPA27015

Polymorphism and mutation databases

DMDMi29840792

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000794901 – 563Beta-catenin-like protein 1Add BLAST563

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei91N6-acetyllysineCombined sources1
Modified residuei389PhosphoserineCombined sources1
Modified residuei545PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WYA6
MaxQBiQ8WYA6
PaxDbiQ8WYA6
PeptideAtlasiQ8WYA6
PRIDEiQ8WYA6
ProteomicsDBi75151
75152 [Q8WYA6-2]
75153 [Q8WYA6-3]

PTM databases

iPTMnetiQ8WYA6
PhosphoSitePlusiQ8WYA6

Expressioni

Tissue specificityi

Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid.1 Publication

Gene expression databases

BgeeiENSG00000132792 Expressed in 221 organ(s), highest expression level in testis
ExpressionAtlasiQ8WYA6 baseline and differential
GenevisibleiQ8WYA6 HS

Organism-specific databases

HPAiHPA004742
HPA027907

Interactioni

Subunit structurei

Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly with CWC15 and CDC5L in the complex. Interacts with AICDA; the interaction is important for the antibody diversification activity of AICDA. Interacts with PRPF31 (via its NLS). Interacts (via its N-terminal NLS) with KPNA1 and KPNA2.3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121123, 62 interactors
CORUMiQ8WYA6
IntActiQ8WYA6, 33 interactors
MINTiQ8WYA6
STRINGi9606.ENSP00000355050

Structurei

Secondary structure

1563
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8WYA6
SMRiQ8WYA6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati79 – 129HEAT 1Add BLAST51
Repeati134 – 176HEAT 2Add BLAST43
Repeati178 – 228ARM 1Add BLAST51
Repeati229 – 273ARM 2Add BLAST45
Repeati274 – 323ARM 3Add BLAST50
Repeati325 – 363ARM 4Add BLAST39
Repeati364 – 417ARM 5Add BLAST54

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili476 – 5401 PublicationAdd BLAST65

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi16 – 33Nuclear localization signalAdd BLAST18
Motifi130 – 140Nuclear export signal (NES)CuratedAdd BLAST11

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi22 – 25Poly-Glu4
Compositional biasi68 – 75Poly-Glu8

Domaini

The surface residues of the concave side of the superhelical ARM repeat region contribute to, but are not essential for NLS binding.1 Publication

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG2734 Eukaryota
ENOG410XPFW LUCA
GeneTreeiENSGT00390000006931
HOVERGENiHBG051212
InParanoidiQ8WYA6
KOiK12864
PhylomeDBiQ8WYA6
TreeFamiTF314294

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR013180 CTNNBL1_N
PfamiView protein in Pfam
PF08216 CTNNBL, 1 hit
SMARTiView protein in SMART
SM01156 DUF1716, 1 hit
SUPFAMiSSF48371 SSF48371, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WYA6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDVGELLSYQ PNRGTKRPRD DEEEEQKMRR KQTGTRERGR YREEEMTVVE
60 70 80 90 100
EADDDKKRLL QIIDRDGEEE EEEEEPLDES SVKKMILTFE KRSYKNQELR
110 120 130 140 150
IKFPDNPEKF MESELDLNDI IQEMHVVATM PDLYHLLVEL NAVQSLLGLL
160 170 180 190 200
GHDNTDVSIA VVDLLQELTD IDTLHESEEG AEVLIDALVD GQVVALLVQN
210 220 230 240 250
LERLDESVKE EADGVHNTLA IVENMAEFRP EMCTEGAQQG LLQWLLKRLK
260 270 280 290 300
AKMPFDANKL YCSEVLAILL QDNDENRELL GELDGIDVLL QQLSVFKRHN
310 320 330 340 350
PSTAEEQEMM ENLFDSLCSC LMLSSNRERF LKGEGLQLMN LMLREKKISR
360 370 380 390 400
SSALKVLDHA MIGPEGTDNC HKFVDILGLR TIFPLFMKSP RKIKKVGTTE
410 420 430 440 450
KEHEEHVCSI LASLLRNLRG QQRTRLLNKF TENDSEKVDR LMELHFKYLG
460 470 480 490 500
AMQVADKKIE GEKHDMVRRG EIIDNDTEEE FYLRRLDAGL FVLQHICYIM
510 520 530 540 550
AEICNANVPQ IRQRVHQILN MRGSSIKIVR HIIKEYAENI GDGRSPEFRE
560
NEQKRILGLL ENF
Length:563
Mass (Da):65,173
Last modified:March 1, 2002 - v1
Checksum:i791BAFCEC5916B5A
GO
Isoform 2 (identifier: Q8WYA6-2) [UniParc]FASTAAdd to basket
Also known as: NYD-SP19

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.
     188-188: L → M

Show »
Length:376
Mass (Da):43,392
Checksum:i54E26219D2AA8496
GO
Isoform 3 (identifier: Q8WYA6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-252: Missing.

Note: Gene prediction based on EST data.
Show »
Length:311
Mass (Da):36,103
Checksum:iBEF11FF9CAF56C86
GO
Isoform 4 (identifier: Q8WYA6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.

Note: No experimental confirmation available.
Show »
Length:536
Mass (Da):61,971
Checksum:i6508EC207D3688FB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2A2P1A2A2P1_HUMAN
Beta-catenin-like protein 1
CTNNBL1
166Annotation score:
A0A087WUB9A0A087WUB9_HUMAN
Beta-catenin-like protein 1
CTNNBL1
568Annotation score:

Sequence cautioni

The sequence AAQ15267 differs from that shown. Reason: Frameshift at position 96.Curated
The sequence BAB14992 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti222V → A in AAI21006 (PubMed:15489334).Curated1
Sequence conflicti329R → L in BAB14992 (PubMed:14702039).Curated1
Sequence conflicti340N → Y in BAC11121 (PubMed:14702039).Curated1
Sequence conflicti439D → N in BAB14992 (PubMed:14702039).Curated1
Sequence conflicti439D → N in BAD96312 (Ref. 7) Curated1
Sequence conflicti445H → Q in BAB14992 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059638507N → D. Corresponds to variant dbSNP:rs4811236Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0151821 – 252Missing in isoform 3. CuratedAdd BLAST252
Alternative sequenceiVSP_0040581 – 187Missing in isoform 2. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_0552611 – 27Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_004059188L → M in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF239607 mRNA Translation: AAL69567.1
AF367471 mRNA Translation: AAK53407.1
AF370431 mRNA Translation: AAQ15267.1 Frameshift.
AK074663 mRNA Translation: BAC11121.1
AK293420 mRNA Translation: BAG56927.1
AK024761 mRNA Translation: BAB14992.1 Different initiation.
AL118499 Genomic DNA No translation available.
AL109964 Genomic DNA No translation available.
AL023804 Genomic DNA No translation available.
BC022802 mRNA Translation: AAH22802.1
BC121005 mRNA Translation: AAI21006.1
BC121006 mRNA Translation: AAI21007.1
AK222592 mRNA Translation: BAD96312.1
CCDSiCCDS13298.1 [Q8WYA6-1]
CCDS63269.1 [Q8WYA6-4]
RefSeqiNP_001268424.1, NM_001281495.1 [Q8WYA6-4]
NP_110517.2, NM_030877.4 [Q8WYA6-1]
XP_011527219.1, XM_011528917.2
UniGeneiHs.472667

Genome annotation databases

EnsembliENST00000361383; ENSP00000355050; ENSG00000132792 [Q8WYA6-1]
ENST00000373469; ENSP00000362568; ENSG00000132792 [Q8WYA6-3]
ENST00000373473; ENSP00000362572; ENSG00000132792 [Q8WYA6-2]
ENST00000405275; ENSP00000384355; ENSG00000132792 [Q8WYA6-4]
ENST00000628103; ENSP00000487198; ENSG00000132792 [Q8WYA6-4]
GeneIDi56259
KEGGihsa:56259
UCSCiuc002xhh.4 human [Q8WYA6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF239607 mRNA Translation: AAL69567.1
AF367471 mRNA Translation: AAK53407.1
AF370431 mRNA Translation: AAQ15267.1 Frameshift.
AK074663 mRNA Translation: BAC11121.1
AK293420 mRNA Translation: BAG56927.1
AK024761 mRNA Translation: BAB14992.1 Different initiation.
AL118499 Genomic DNA No translation available.
AL109964 Genomic DNA No translation available.
AL023804 Genomic DNA No translation available.
BC022802 mRNA Translation: AAH22802.1
BC121005 mRNA Translation: AAI21006.1
BC121006 mRNA Translation: AAI21007.1
AK222592 mRNA Translation: BAD96312.1
CCDSiCCDS13298.1 [Q8WYA6-1]
CCDS63269.1 [Q8WYA6-4]
RefSeqiNP_001268424.1, NM_001281495.1 [Q8WYA6-4]
NP_110517.2, NM_030877.4 [Q8WYA6-1]
XP_011527219.1, XM_011528917.2
UniGeneiHs.472667

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CB8X-ray2.90A77-563[»]
4CB9X-ray3.00A1-563[»]
4CBAX-ray3.10A77-563[»]
4HM9X-ray3.10A1-563[»]
4HNMX-ray2.90A75-563[»]
4MFUX-ray2.74A77-563[»]
4MFVX-ray2.92A/B33-563[»]
ProteinModelPortaliQ8WYA6
SMRiQ8WYA6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121123, 62 interactors
CORUMiQ8WYA6
IntActiQ8WYA6, 33 interactors
MINTiQ8WYA6
STRINGi9606.ENSP00000355050

PTM databases

iPTMnetiQ8WYA6
PhosphoSitePlusiQ8WYA6

Polymorphism and mutation databases

DMDMi29840792

Proteomic databases

EPDiQ8WYA6
MaxQBiQ8WYA6
PaxDbiQ8WYA6
PeptideAtlasiQ8WYA6
PRIDEiQ8WYA6
ProteomicsDBi75151
75152 [Q8WYA6-2]
75153 [Q8WYA6-3]

Protocols and materials databases

DNASUi56259
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361383; ENSP00000355050; ENSG00000132792 [Q8WYA6-1]
ENST00000373469; ENSP00000362568; ENSG00000132792 [Q8WYA6-3]
ENST00000373473; ENSP00000362572; ENSG00000132792 [Q8WYA6-2]
ENST00000405275; ENSP00000384355; ENSG00000132792 [Q8WYA6-4]
ENST00000628103; ENSP00000487198; ENSG00000132792 [Q8WYA6-4]
GeneIDi56259
KEGGihsa:56259
UCSCiuc002xhh.4 human [Q8WYA6-1]

Organism-specific databases

CTDi56259
DisGeNETi56259
EuPathDBiHostDB:ENSG00000132792.18
GeneCardsiCTNNBL1
HGNCiHGNC:15879 CTNNBL1
HPAiHPA004742
HPA027907
MIMi611537 gene
neXtProtiNX_Q8WYA6
OpenTargetsiENSG00000132792
PharmGKBiPA27015
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2734 Eukaryota
ENOG410XPFW LUCA
GeneTreeiENSGT00390000006931
HOVERGENiHBG051212
InParanoidiQ8WYA6
KOiK12864
PhylomeDBiQ8WYA6
TreeFamiTF314294

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Miscellaneous databases

ChiTaRSiCTNNBL1 human
GeneWikiiCTNNBL1
GenomeRNAii56259
PROiPR:Q8WYA6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132792 Expressed in 221 organ(s), highest expression level in testis
ExpressionAtlasiQ8WYA6 baseline and differential
GenevisibleiQ8WYA6 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR013180 CTNNBL1_N
PfamiView protein in Pfam
PF08216 CTNNBL, 1 hit
SMARTiView protein in SMART
SM01156 DUF1716, 1 hit
SUPFAMiSSF48371 SSF48371, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCTBL1_HUMAN
AccessioniPrimary (citable) accession number: Q8WYA6
Secondary accession number(s): B4DE16
, Q0VAL9, Q0VAM0, Q53HI8, Q5JWZ2, Q5JWZ3, Q5JWZ7, Q5JWZ8, Q8N454, Q8NCL2, Q8TBD6, Q96KD2, Q9H7A5, Q9NQF9, Q9NTX0, Q9Y3M7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: March 1, 2002
Last modified: September 12, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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Main funding by: National Institutes of Health

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