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Q8WYA6 (CTBL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-catenin-like protein 1
Alternative name(s):
Nuclear-associated protein
Short name=NAP
Testis development protein NYD-SP19
Gene names
Name:CTNNBL1
Synonyms:C20orf33
ORF Names:PP8304
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length563 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.8

Subunit structure

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. Ref.8 Ref.11 Ref.13

Subcellular location

Nucleus Ref.1 Ref.8 Ref.11 Ref.13.

Tissue specificity

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

Sequence caution

The sequence AAQ15267.1 differs from that shown. Reason: Frameshift at position 96.

The sequence BAB14992.1 differs from that shown. Reason: Erroneous initiation.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CDC5LQ994592EBI-748128,EBI-374880
SNW1Q135732EBI-748128,EBI-632715

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WYA6-1)

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.
Isoform 2 (identifier: Q8WYA6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.
     188-188: L → M
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8WYA6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-252: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 563563Beta-catenin-like protein 1
PRO_0000079490

Regions

Motif16 – 3318Nuclear localization signal
Compositional bias22 – 254Poly-Glu
Compositional bias68 – 758Poly-Glu

Amino acid modifications

Modified residue11N-acetylmethionine Ref.14 Ref.15
Modified residue911N6-acetyllysine Ref.10
Modified residue3891Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 252252Missing in isoform 3.
VSP_015182
Alternative sequence1 – 187187Missing in isoform 2.
VSP_004058
Alternative sequence1881L → M in isoform 2.
VSP_004059
Natural variant5071N → D.
Corresponds to variant rs4811236 [ dbSNP | Ensembl ].
VAR_059638

Experimental info

Mutagenesis16 – 3318Missing: Nuclear and cytoplasmic localization. Ref.8
Sequence conflict3291R → L in BAB14992. Ref.4
Sequence conflict3401N → Y in BAC11121. Ref.4
Sequence conflict4391D → N in BAB14992. Ref.4
Sequence conflict4391D → N in BAD96312. Ref.7
Sequence conflict4451H → Q in BAB14992. Ref.4

Secondary structure

....................................................................... 563
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 791BAFCEC5916B5A

FASTA56365,173
        10         20         30         40         50         60 
MDVGELLSYQ PNRGTKRPRD DEEEEQKMRR KQTGTRERGR YREEEMTVVE EADDDKKRLL 

        70         80         90        100        110        120 
QIIDRDGEEE EEEEEPLDES SVKKMILTFE KRSYKNQELR IKFPDNPEKF MESELDLNDI 

       130        140        150        160        170        180 
IQEMHVVATM PDLYHLLVEL NAVQSLLGLL GHDNTDVSIA VVDLLQELTD IDTLHESEEG 

       190        200        210        220        230        240 
AEVLIDALVD GQVVALLVQN LERLDESVKE EADGVHNTLA IVENMAEFRP EMCTEGAQQG 

       250        260        270        280        290        300 
LLQWLLKRLK AKMPFDANKL YCSEVLAILL QDNDENRELL GELDGIDVLL QQLSVFKRHN 

       310        320        330        340        350        360 
PSTAEEQEMM ENLFDSLCSC LMLSSNRERF LKGEGLQLMN LMLREKKISR SSALKVLDHA 

       370        380        390        400        410        420 
MIGPEGTDNC HKFVDILGLR TIFPLFMKSP RKIKKVGTTE KEHEEHVCSI LASLLRNLRG 

       430        440        450        460        470        480 
QQRTRLLNKF TENDSEKVDR LMELHFKYLG AMQVADKKIE GEKHDMVRRG EIIDNDTEEE 

       490        500        510        520        530        540 
FYLRRLDAGL FVLQHICYIM AEICNANVPQ IRQRVHQILN MRGSSIKIVR HIIKEYAENI 

       550        560 
GDGRSPEFRE NEQKRILGLL ENF 

« Hide

Isoform 2 [UniParc].

Checksum: 54E26219D2AA8496
Show »

FASTA37643,392
Isoform 3 [UniParc].

Checksum: BEF11FF9CAF56C86
Show »

FASTA31136,103

References

« Hide 'large scale' references
[1]"Sequence, gene structure, and expression pattern of CTNNBL1, a minor-class intron-containing gene - evidence for a role in apoptosis."
Jabbour L.S., Welter J.F., Kollar J., Hering T.M.
Genomics 81:292-303(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, POSSIBLE FUNCTION.
[2]"A new testis development gene NYD-SP19 from human testes."
Sha J.H., Li J.M., Zhou Z.M.
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Testis.
[3]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Aortic smooth muscle and Mammary gland.
[5]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[7]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 327-563.
Tissue: Coronary artery.
[8]"Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1."
Conticello S.G., Ganesh K., Xue K., Lu M., Rada C., Neuberger M.S.
Mol. Cell 31:474-484(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH AICDA, SUBCELLULAR LOCATION, POSSIBLE FUNCTION, MUTAGENESIS OF 16-LYS--LYS-33.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-389, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-91, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Molecular architecture of the human Prp19/CDC5L complex."
Grote M., Wolf E., Will C.L., Lemm I., Agafonov D.E., Schomburg A., Fischle W., Urlaub H., Luhrmann R.
Mol. Cell. Biol. 30:2105-2119(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION AS A COMPONENT OF THE PRP19-CDC5L COMPLEX, SUBCELLULAR LOCATION, INTERACTION WITH CWC15 AND CDC5L.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31."
Ganesh K., Adam S., Taylor B., Simpson P., Rada C., Neuberger M.
J. Biol. Chem. 286:17091-17102(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH AICDA; CDC5L; PRPF31; KPNA1 AND KPNA2, SUBCELLULAR LOCATION.
[14]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF239607 mRNA. Translation: AAL69567.1.
AF367471 mRNA. Translation: AAK53407.1.
AF370431 mRNA. Translation: AAQ15267.1. Frameshift.
AK074663 mRNA. Translation: BAC11121.1.
AK024761 mRNA. Translation: BAB14992.1. Different initiation.
AL118499, AL023804, AL109964 Genomic DNA. Translation: CAI19331.1.
AL118499, AL023804, AL109964 Genomic DNA. Translation: CAI19332.1.
AL109964, AL023804, AL118499 Genomic DNA. Translation: CAI42203.1.
AL109964, AL023804 Genomic DNA. Translation: CAI42204.1.
AL109964, AL023804, AL118499 Genomic DNA. Translation: CAI42208.1.
AL023804, AL109964, AL118499 Genomic DNA. Translation: CAI42984.1.
AL023804, AL109964 Genomic DNA. Translation: CAI42985.1.
AL023804, AL109964, AL118499 Genomic DNA. Translation: CAI42986.1.
BC022802 mRNA. Translation: AAH22802.1.
BC121006 mRNA. Translation: AAI21007.1.
AK222592 mRNA. Translation: BAD96312.1.
RefSeqNP_110517.2. NM_030877.4.
UniGeneHs.472667.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4CB8X-ray2.90A77-563[»]
4CB9X-ray3.00A1-563[»]
4CBAX-ray3.10A77-563[»]
4HM9X-ray3.10A1-563[»]
4HNMX-ray2.90A75-563[»]
ProteinModelPortalQ8WYA6.
SMRQ8WYA6. Positions 50-563.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121123. 39 interactions.
IntActQ8WYA6. 17 interactions.
MINTMINT-1444671.

PTM databases

PhosphoSiteQ8WYA6.

Polymorphism databases

DMDM29840792.

Proteomic databases

PaxDbQ8WYA6.
PRIDEQ8WYA6.

Protocols and materials databases

DNASU56259.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361383; ENSP00000355050; ENSG00000132792. [Q8WYA6-1]
ENST00000373469; ENSP00000362568; ENSG00000132792. [Q8WYA6-3]
ENST00000373473; ENSP00000362572; ENSG00000132792. [Q8WYA6-2]
GeneID56259.
KEGGhsa:56259.
UCSCuc002xhh.3. human. [Q8WYA6-2]
uc002xhj.3. human. [Q8WYA6-1]

Organism-specific databases

CTD56259.
GeneCardsGC20P036322.
HGNCHGNC:15879. CTNNBL1.
HPAHPA004742.
HPA027907.
MIM611537. gene.
neXtProtNX_Q8WYA6.
PharmGKBPA27015.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283719.
HOVERGENHBG051212.
InParanoidQ8WYA6.
KOK12864.
OMAMREYAGN.
OrthoDBEOG7353WH.
PhylomeDBQ8WYA6.
TreeFamTF314294.

Gene expression databases

ArrayExpressQ8WYA6.
BgeeQ8WYA6.
GenevestigatorQ8WYA6.

Family and domain databases

Gene3D1.25.10.10. 2 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR013180. CTNNBL1_N.
[Graphical view]
PfamPF08216. CTNNBL. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
ProtoNetSearch...

Other

GeneWikiCTNNBL1.
GenomeRNAi56259.
NextBio61909.
PROQ8WYA6.
SOURCESearch...

Entry information

Entry nameCTBL1_HUMAN
AccessionPrimary (citable) accession number: Q8WYA6
Secondary accession number(s): Q0VAL9 expand/collapse secondary AC list , Q53HI8, Q5JWZ2, Q5JWZ3, Q5JWZ7, Q5JWZ8, Q8N454, Q8NCL2, Q8TBD6, Q96KD2, Q9H7A5, Q9NQF9, Q9NTX0, Q9Y3M7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: March 1, 2002
Last modified: April 16, 2014
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM