Q8WYA6 (CTBL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	563 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Apoptosis mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	RNA splicing Inferred from electronic annotation. Source: UniProtKB-KW apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of apoptotic process Inferred from direct assay Ref.1. Source: UniProtKB somatic diversification of immunoglobulins Inferred from mutant phenotype Ref.8. Source: UniProtKB
Cellular_component	Prp19 complex Inferred from direct assay PubMed 15175653. Source: UniProtKB spliceosomal complex Inferred from direct assay Ref.11. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 563	563	Beta-catenin-like protein 1		PRO_0000079490
Regions
	Motif	16 – 33	18	Nuclear localization signal
	Compositional bias	22 – 25	4	Poly-Glu
	Compositional bias	68 – 75	8	Poly-Glu
Amino acid modifications
	Modified residue	91	1	N6-acetyllysine Ref.10
	Modified residue	389	1	Phosphoserine Ref.9
	Modified residue	545	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 252	252	Missing in isoform 3.		VSP_015182
	Alternative sequence	1 – 187	187	Missing in isoform 2.		VSP_004058
	Alternative sequence	188	1	L → M in isoform 2.		VSP_004059
	Natural variant	507	1	N → D. Corresponds to variant rs4811236 [ dbSNP | Ensembl ].		VAR_059638
Experimental info
	Mutagenesis	16 – 33	18	Missing: Nuclear and cytoplasmic localization. Ref.8
	Sequence conflict	329	1	R → L in BAB14992. Ref.4
	Sequence conflict	340	1	N → Y in BAC11121. Ref.4
	Sequence conflict	439	1	D → N in BAB14992. Ref.4
	Sequence conflict	439	1	D → N in BAD96312. Ref.7
	Sequence conflict	445	1	H → Q in BAB14992. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 791BAFCEC5916B5A	FASTA	563	65,173
	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
	Isoform 2 [UniParc]. Checksum: 54E26219D2AA8496	FASTA	376	43,392
	10 20 30 40 50 60 MVDGQVVALL VQNLERLDES VKEEADGVHN TLAIVENMAE FRPEMCTEGA QQGLLQWLLK 70 80 90 100 110 120 RLKAKMPFDA NKLYCSEVLA ILLQDNDENR ELLGELDGID VLLQQLSVFK RHNPSTAEEQ 130 140 150 160 170 180 EMMENLFDSL CSCLMLSSNR ERFLKGEGLQ LMNLMLREKK ISRSSALKVL DHAMIGPEGT 190 200 210 220 230 240 DNCHKFVDIL GLRTIFPLFM KSPRKIKKVG TTEKEHEEHV CSILASLLRN LRGQQRTRLL 250 260 270 280 290 300 NKFTENDSEK VDRLMELHFK YLGAMQVADK KIEGEKHDMV RRGEIIDNDT EEEFYLRRLD 310 320 330 340 350 360 AGLFVLQHIC YIMAEICNAN VPQIRQRVHQ ILNMRGSSIK IVRHIIKEYA ENIGDGRSPE 370 FRENEQKRIL GLLENF
	Isoform 3 [UniParc]. Checksum: BEF11FF9CAF56C86	FASTA	311	36,103
	10 20 30 40 50 60 MPFDANKLYC SEVLAILLQD NDENRELLGE LDGIDVLLQQ LSVFKRHNPS TAEEQEMMEN 70 80 90 100 110 120 LFDSLCSCLM LSSNRERFLK GEGLQLMNLM LREKKISRSS ALKVLDHAMI GPEGTDNCHK 130 140 150 160 170 180 FVDILGLRTI FPLFMKSPRK IKKVGTTEKE HEEHVCSILA SLLRNLRGQQ RTRLLNKFTE 190 200 210 220 230 240 NDSEKVDRLM ELHFKYLGAM QVADKKIEGE KHDMVRRGEI IDNDTEEEFY LRRLDAGLFV 250 260 270 280 290 300 LQHICYIMAE ICNANVPQIR QRVHQILNMR GSSIKIVRHI IKEYAENIGD GRSPEFRENE 310 QKRILGLLEN F

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY.
[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.
+	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.
IPI	IPI00472981. IPI00645320. IPI00844214.
RefSeq	NP_110517.2. NM_030877.3.
UniGene	Hs.472667.
3D structure databases
ProteinModelPortal	Q8WYA6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8WYA6. 1 interaction.
MINT	MINT-1444671.
PTM databases
PhosphoSite	Q8WYA6.
Polymorphism databases
DMDM	29840792.
Proteomic databases
PaxDb	Q8WYA6.
PRIDE	Q8WYA6.
Protocols and materials databases
DNASU	56259.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361383; ENSP00000355050; ENSG00000132792. ENST00000373469; ENSP00000362568; ENSG00000132792. ENST00000373473; ENSP00000362572; ENSG00000132792.
GeneID	56259.
KEGG	hsa:56259.
UCSC	uc002xhh.3. human. uc002xhj.3. human.
Organism-specific databases
CTD	56259.
GeneCards	GC20P036322.
HGNC	HGNC:15879. CTNNBL1.
HPA	HPA004742. HPA027907.
MIM	611537. gene.
neXtProt	NX_Q8WYA6.
PharmGKB	PA27015.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG283719.
HOVERGEN	HBG051212.
InParanoid	Q8WYA6.
KO	K12864.
OMA	MLREKKM.
OrthoDB	EOG4BZN2F.
Gene expression databases
ArrayExpress	Q8WYA6.
Bgee	Q8WYA6.
Genevestigator	Q8WYA6.
GermOnline	ENSG00000132792. Homo sapiens.
Family and domain databases
Gene3D	1.25.10.10. 2 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR013180. DUF1716_euk. [Graphical view]
Pfam	PF08216. DUF1716. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	56259.
NextBio	61909.
SOURCE	Search...

Entry information

Entry name

CTBL1_HUMAN

Accession

Primary (citable) accession number: Q8WYA6
Secondary accession number(s): Q0VAL9 , 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 3, 2013
This is version 99 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.