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Protein

Beta-catenin-like protein 1

Gene

CTNNBL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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.

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.
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

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121123. 62 interactors.
CORUMiQ8WYA6.
IntActiQ8WYA6. 32 interactors.
MINTiMINT-1444671.
STRINGi9606.ENSP00000355050.

Structurei

Secondary structure

1563
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni54 – 56Combined sources3
Helixi57 – 63Combined sources7
Helixi81 – 102Combined sources22
Beta strandi105 – 107Combined sources3
Helixi111 – 125Combined sources15
Turni126 – 129Combined sources4
Helixi131 – 134Combined sources4
Helixi135 – 139Combined sources5
Helixi142 – 149Combined sources8
Helixi155 – 170Combined sources16
Helixi171 – 173Combined sources3
Beta strandi174 – 176Combined sources3
Helixi179 – 190Combined sources12
Helixi193 – 203Combined sources11
Helixi209 – 228Combined sources20
Helixi232 – 239Combined sources8
Helixi241 – 250Combined sources10
Helixi257 – 270Combined sources14
Helixi274 – 282Combined sources9
Helixi285 – 294Combined sources10
Beta strandi297 – 299Combined sources3
Helixi304 – 322Combined sources19
Helixi325 – 332Combined sources8
Helixi335 – 344Combined sources10
Helixi350 – 361Combined sources12
Helixi364 – 366Combined sources3
Helixi367 – 375Combined sources9
Helixi378 – 387Combined sources10
Helixi393 – 396Combined sources4
Helixi401 – 417Combined sources17
Helixi420 – 429Combined sources10
Helixi432 – 469Combined sources38
Helixi475 – 487Combined sources13
Helixi490 – 504Combined sources15
Helixi509 – 520Combined sources12
Turni521 – 523Combined sources3
Helixi526 – 539Combined sources14
Beta strandi542 – 544Combined sources3
Helixi546 – 559Combined sources14
Turni560 – 562Combined sources3

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...

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. 2 hits.
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

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

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

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: November 22, 2017
This is version 141 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references