Q15393 (SF3B3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Splicing factor 3B subunit 3

Alternative name(s):
Pre-mRNA-splicing factor SF3b 130 kDa subunit
Short name=SF3b130
STAF130
Spliceosome-associated protein 130
Short name=SAP 130

Gene names

Name:	SF3B3
Synonyms:	KIAA0017, SAP130

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1217 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron.
Subunit structure	Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B145, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B, SF3B10 and SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interaction between SF3B3 and SF3B1 is tighter than the interaction between SF3B3 and SF3B2. Associates with the STAGA transcription coactivator-HAT complex. Interacts with SUPT3H. Ref.6 Ref.7
Subcellular location	Nucleus Ref.6.
Sequence similarities	Belongs to the RSE1 family.
Sequence caution	The sequence BAA02805.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA32662.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	nuclear mRNA splicing, via spliceosome Inferred by curator Ref.9. Source: UniProtKB protein complex assembly Traceable author statement. Source: ProtInc
Cellular component	U12-type spliceosomal complex Inferred from direct assay Ref.11. Source: UniProtKB catalytic step 2 spliceosome Inferred from direct assay Ref.9. Source: UniProtKB nucleoplasm Traceable author statement. Source: Reactome small nuclear ribonucleoprotein complex Traceable author statement. Source: ProtInc
Molecular function	nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q15393-1)

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: Q15393-2)

The sequence of this isoform differs from the canonical sequence as follows:
     250-275: ICSENYITYKNFGDQPDIRCPIPRRR → NLSPPFPKAIPALICLDSPVYFCTHP
     276-1217: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q15393-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-818: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1217	1217	Splicing factor 3B subunit 3		PRO_0000218639
Amino acid modifications
	Modified residue	109	1	N6-acetyllysine Ref.12
	Modified residue	126	1	N6-acetyllysine Ref.12
Natural variations
	Alternative sequence	1 – 818	818	Missing in isoform 3.		VSP_022977
	Alternative sequence	250 – 275	26	ICSEN…IPRRR → NLSPPFPKAIPALICLDSPV YFCTHP in isoform 2.		VSP_022978
	Alternative sequence	276 – 1217	942	Missing in isoform 2.		VSP_022979
	Natural variant	908	1	G → R. Corresponds to variant rs11551673 [ dbSNP | Ensembl ].		VAR_053647
Experimental info
	Sequence conflict	193	1	D → G in CAB56791. Ref.1
	Sequence conflict	301	1	F → S in AAH68974. Ref.4
	Sequence conflict	302	1	L → W in CAB56791. Ref.1
	Sequence conflict	899	1	T → I in AAH00463. Ref.4
	Sequence conflict	899	1	T → I in AAH03146. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 4. Checksum: 35CACAF5ACC32512	FASTA	1,217	135,577
	10 20 30 40 50 60 MFLYNLTLQR ATGISFAIHG NFSGTKQQEI VVSRGKILEL LRPDPNTGKV HTLLTVEVFG 70 80 90 100 110 120 VIRSLMAFRL TGGTKDYIVV GSDSGRIVIL EYQPSKNMFE KIHQETFGKS GCRRIVPGQF 130 140 150 160 170 180 LAVDPKGRAV MISAIEKQKL VYILNRDAAA RLTISSPLEA HKANTLVYHV VGVDVGFENP 190 200 210 220 230 240 MFACLEMDYE EADNDPTGEA AANTQQTLTF YELDLGLNHV VRKYSEPLEE HGNFLITVPG 250 260 270 280 290 300 GSDGPSGVLI CSENYITYKN FGDQPDIRCP IPRRRNDLDD PERGMIFVCS ATHKTKSMFF 310 320 330 340 350 360 FLAQTEQGDI FKITLETDED MVTEIRLKYF DTVPVAAAMC VLKTGFLFVA SEFGNHYLYQ 370 380 390 400 410 420 IAHLGDDDEE PEFSSAMPLE EGDTFFFQPR PLKNLVLVDE LDSLSPILFC QIADLANEDT 430 440 450 460 470 480 PQLYVACGRG PRSSLRVLRH GLEVSEMAVS ELPGNPNAVW TVRRHIEDEF DAYIIVSFVN 490 500 510 520 530 540 ATLVLSIGET VEEVTDSGFL GTTPTLSCSL LGDDALVQVY PDGIRHIRAD KRVNEWKTPG 550 560 570 580 590 600 KKTIVKCAVN QRQVVIALTG GELVYFEMDP SGQLNEYTER KEMSADVVCM SLANVPPGEQ 610 620 630 640 650 660 RSRFLAVGLV DNTVRIISLD PSDCLQPLSM QALPAQPESL CIVEMGGTEK QDELGERGSI 670 680 690 700 710 720 GFLYLNIGLQ NGVLLRTVLD PVTGDLSDTR TRYLGSRPVK LFRVRMQGQE AVLAMSSRSW 730 740 750 760 770 780 LSYSYQSRFH LTPLSYETLE FASGFASEQC PEGIVAISTN TLRILALEKL GAVFNQVAFP 790 800 810 820 830 840 LQYTPRKFVI HPESNNLIII ETDHNAYTEA TKAQRKQQMA EEMVEAAGED ERELAAEMAA 850 860 870 880 890 900 AFLNENLPES IFGAPKAGNG QWASVIRVMN PIQGNTLDLV QLEQNEAAFS VAVCRFSNTG 910 920 930 940 950 960 EDWYVLVGVA KDLILNPRSV AGGFVYTYKL VNNGEKLEFL HKTPVEEVPA AIAPFQGRVL 970 980 990 1000 1010 1020 IGVGKLLRVY DLGKKKLLRK CENKHIANYI SGIQTIGHRV IVSDVQESFI WVRYKRNENQ 1030 1040 1050 1060 1070 1080 LIIFADDTYP RWVTTASLLD YDTVAGADKF GNICVVRLPP NTNDEVDEDP TGNKALWDRG 1090 1100 1110 1120 1130 1140 LLNGASQKAE VIMNYHVGET VLSLQKTTLI PGGSESLVYT TLSGGIGILV PFTSHEDHDF 1150 1160 1170 1180 1190 1200 FQHVEMHLRS EHPPLCGRDH LSFRSYYFPV KNVIDGDLCE QFNSMEPNKQ KNVSEELDRT 1210 PPEVSKKLED IRTRYAF
	Isoform 2 [UniParc]. Checksum: D46811A34E142E7D	FASTA	275	30,210
	10 20 30 40 50 60 MFLYNLTLQR ATGISFAIHG NFSGTKQQEI VVSRGKILEL LRPDPNTGKV HTLLTVEVFG 70 80 90 100 110 120 VIRSLMAFRL TGGTKDYIVV GSDSGRIVIL EYQPSKNMFE KIHQETFGKS GCRRIVPGQF 130 140 150 160 170 180 LAVDPKGRAV MISAIEKQKL VYILNRDAAA RLTISSPLEA HKANTLVYHV VGVDVGFENP 190 200 210 220 230 240 MFACLEMDYE EADNDPTGEA AANTQQTLTF YELDLGLNHV VRKYSEPLEE HGNFLITVPG 250 260 270 GSDGPSGVLN LSPPFPKAIP ALICLDSPVY FCTHP
	Isoform 3 [UniParc]. Checksum: E8F6C071997055A0	FASTA	399	44,606
	10 20 30 40 50 60 MAEEMVEAAG EDERELAAEM AAAFLNENLP ESIFGAPKAG NGQWASVIRV MNPIQGNTLD 70 80 90 100 110 120 LVQLEQNEAA FSVAVCRFSN TGEDWYVLVG VAKDLILNPR SVAGGFVYTY KLVNNGEKLE 130 140 150 160 170 180 FLHKTPVEEV PAAIAPFQGR VLIGVGKLLR VYDLGKKKLL RKCENKHIAN YISGIQTIGH 190 200 210 220 230 240 RVIVSDVQES FIWVRYKRNE NQLIIFADDT YPRWVTTASL LDYDTVAGAD KFGNICVVRL 250 260 270 280 290 300 PPNTNDEVDE DPTGNKALWD RGLLNGASQK AEVIMNYHVG ETVLSLQKTT LIPGGSESLV 310 320 330 340 350 360 YTTLSGGIGI LVPFTSHEDH DFFQHVEMHL RSEHPPLCGR DHLSFRSYYF PVKNVIDGDL 370 380 390 CEQFNSMEPN KQKNVSEELD RTPPEVSKKL EDIRTRYAF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of a protein complex containing spliceosomal proteins saps 49,130,145 and 155." Das B.K., Xia L., Palandjian L., Gozani O., Chyung Y., Reed R. Mol. Cell. Biol. 19:6796-6802(1999) [PubMed: 10490618] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1." Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S. DNA Res. 1:27-35(1994) [PubMed: 7584026] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Bone marrow.
[3]	Nomura N. Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Lung, Skeletal muscle and Skin.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1003-1217 (ISOFORM 1). Tissue: Testis.
[6]	"Human STAGA complex is a chromatin-acetylating transcription coactivator that interacts with pre-mRNA splicing and DNA damage-binding factors in vivo." Martinez E., Palhan V.B., Tjernberg A., Lymar E.S., Gamper A.M., Kundu T.K., Chait B.T., Roeder R.G. Mol. Cell. Biol. 21:6782-6795(2001) [PubMed: 11564863] [Abstract] Cited for: MASS SPECTROMETRY, SUBCELLULAR LOCATION, INTERACTION WITH SUPT3H, INTERACTION WITH THE STAGA COMPLEX.
[7]	"The TFIID components human TAFII140 and Drosophila BIP2 (TAFII155) are novel metazoan homologues of yeast TAFII47 containing a histone fold and a PHD finger." Gangloff Y.G., Pointud J.-C., Thuault S., Carre L., Romier C., Muratoglu S., Brand M., Tora L., Couderc J.-L., Davidson I. Mol. Cell. Biol. 21:5109-5121(2001) [PubMed: 11438666] [Abstract] Cited for: INTERACTION WITH TAF3.
[8]	"Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein." Will C.L., Urlaub H., Achsel T., Gentzel M., Wilm M., Luehrmann R. EMBO J. 21:4978-4988(2002) [PubMed: 12234937] [Abstract] Cited for: IDENTIFICATION IN THE SF3B COMPLEX.
[9]	"Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis." Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J. RNA 8:426-439(2002) [PubMed: 11991638] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX.
[10]	"Molecular architecture of the multiprotein splicing factor SF3b." Golas M.M., Sander B., Will C.L., Luhrmann R., Stark H. Science 300:980-984(2003) [PubMed: 12738865] [Abstract] Cited for: IDENTIFICATION IN THE SF3B COMPLEX, ELECTRON MICROSCOPY OF THE SF3B COMPLEX.
[11]	"The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome." Will C.L., Schneider C., Hossbach M., Urlaub H., Rauhut R., Elbashir S., Tuschl T., Luehrmann R. RNA 10:929-941(2004) [PubMed: 15146077] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH THE U11/U12 SPLICEOSOME, MASS SPECTROMETRY.
[12]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-109 AND LYS-126, MASS SPECTROMETRY.
[13]	"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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ001443 mRNA. Translation: CAB56791.1. D87686 mRNA. Translation: BAA32662.2. Different initiation. D13642 mRNA. Translation: BAA02805.1. Different initiation. BC000463 mRNA. Translation: AAH00463.1. BC003146 mRNA. Translation: AAH03146.1. BC009780 mRNA. Translation: AAH09780.1. BC068974 mRNA. Translation: AAH68974.1. AL110251 mRNA. Translation: CAB53699.1.
IPI	IPI00179138. IPI00300371. IPI00828110.
PIR	T14779.
RefSeq	NP_036558.3. NM_012426.4.
UniGene	Hs.514435.
3D structure databases
ProteinModelPortal	Q15393.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-28152N.
IntAct	Q15393. 13 interactions.
MINT	MINT-1402891.
STRING	Q15393.
PTM databases
PhosphoSite	Q15393.
Polymorphism databases
DMDM	116242787.
Proteomic databases
PeptideAtlas	Q15393.
PRIDE	Q15393.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302516; ENSP00000305790; ENSG00000189091.
GeneID	23450.
KEGG	hsa:23450.
NMPDR	fig|9606.3.peg.12510.
UCSC	uc002ezf.1. human.
Organism-specific databases
CTD	23450.
GeneCards	GC16P070557.
H-InvDB	HIX0013202.
HGNC	HGNC:10770. SF3B3.
HPA	HPA042986.
MIM	605592. gene.
neXtProt	NX_Q15393.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13336.
GeneTree	ENSGT00530000063396.
HOGENOM	HBG396780.
HOVERGEN	HBG093942.
InParanoid	Q15393.
OMA	FDTIPVA.
OrthoDB	EOG4RV2QJ.
PhylomeDB	Q15393.
Enzyme and pathway databases
Reactome	REACT_1675. mRNA Processing. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q15393.
Bgee	Q15393.
CleanEx	HS_SAP130. HS_SF3B3.
Genevestigator	Q15393.
GermOnline	ENSG00000189091. Homo sapiens.
Family and domain databases
InterPro	IPR004871. Cleavage/polyA-sp_fac_asu_C. IPR015943. WD40/YVTN_repeat-like_dom. [Graphical view]
Gene3D	G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 3 hits.
KO	K12830.
Pfam	PF03178. CPSF_A. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	45731.
SOURCE	Search...

Entry information

Entry name

SF3B3_HUMAN

Accession

Primary (citable) accession number: Q15393
Secondary accession number(s): Q6NTI8 , Q96GC0, Q9BPY2, Q9UFX7, Q9UJ29

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 116 of the entry and version 4 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.