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Q15393 (SF3B3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 138. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1217 AA.
Sequence statusComplete.
Protein existenceEvidence 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 complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A/SF3B14B, and DDX42/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 Ref.8 Ref.9 Ref.10 Ref.11

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12171217Splicing factor 3B subunit 3
PRO_0000218639

Natural variations

Alternative sequence1 – 818818Missing in isoform 3.
VSP_022977
Alternative sequence250 – 27526ICSEN…IPRRR → NLSPPFPKAIPALICLDSPV YFCTHP in isoform 2.
VSP_022978
Alternative sequence276 – 1217942Missing in isoform 2.
VSP_022979
Natural variant9081G → R.
Corresponds to variant rs11551673 [ dbSNP | Ensembl ].
VAR_053647

Experimental info

Sequence conflict1931D → G in CAB56791. Ref.1
Sequence conflict3011F → S in AAH68974. Ref.4
Sequence conflict3021L → W in CAB56791. Ref.1
Sequence conflict8991T → I in AAH00463. Ref.4
Sequence conflict8991T → I in AAH03146. Ref.4

Sequences

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

Last modified October 17, 2006. Version 4.
Checksum: 35CACAF5ACC32512

FASTA1,217135,577
        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 

« Hide

Isoform 2 [UniParc].

Checksum: D46811A34E142E7D
Show »

FASTA27530,210
Isoform 3 [UniParc].

Checksum: E8F6C071997055A0
Show »

FASTA39944,606

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SUPT3H, INTERACTION WITH THE STAGA COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
[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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH THE U11/U12 SPLICEOSOME, IDENTIFICATION BY MASS SPECTROMETRY.
[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]"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: 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.
CCDSCCDS10894.1. [Q15393-1]
PIRT14779.
RefSeqNP_036558.3. NM_012426.4. [Q15393-1]
UniGeneHs.514435.

3D structure databases

ProteinModelPortalQ15393.
SMRQ15393. Positions 438-769, 881-1211.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117016. 128 interactions.
DIPDIP-28152N.
IntActQ15393. 46 interactions.
MINTMINT-1402891.
STRING9606.ENSP00000305790.

Chemistry

BindingDBQ15393.
ChEMBLCHEMBL1250378.

PTM databases

PhosphoSiteQ15393.

Polymorphism databases

DMDM116242787.

Proteomic databases

MaxQBQ15393.
PaxDbQ15393.
PeptideAtlasQ15393.
PRIDEQ15393.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302516; ENSP00000305790; ENSG00000189091. [Q15393-1]
GeneID23450.
KEGGhsa:23450.
UCSCuc002ezf.3. human. [Q15393-1]

Organism-specific databases

CTD23450.
GeneCardsGC16P070557.
HGNCHGNC:10770. SF3B3.
HPAHPA042986.
MIM605592. gene.
neXtProtNX_Q15393.
PharmGKBPA35688.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG247734.
HOGENOMHOG000216677.
HOVERGENHBG093942.
InParanoidQ15393.
KOK12830.
OMAHPKGIRH.
OrthoDBEOG7N8ZTN.
PhylomeDBQ15393.
TreeFamTF105685.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ15393.
BgeeQ15393.
CleanExHS_SAP130.
HS_SF3B3.
GenevestigatorQ15393.

Family and domain databases

InterProIPR004871. Cleavage/polyA-sp_fac_asu_C.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF03178. CPSF_A. 1 hit.
[Graphical view]
SUPFAMSSF50978. SSF50978. 3 hits.
ProtoNetSearch...

Other

GeneWikiSF3B3.
GenomeRNAi23450.
NextBio45731.
PROQ15393.
SOURCESearch...

Entry information

Entry nameSF3B3_HUMAN
AccessionPrimary (citable) accession number: Q15393
Secondary accession number(s): Q6NTI8 expand/collapse secondary AC list , Q96GC0, Q9BPY2, Q9UFX7, Q9UJ29
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 138 of the entry and version 4 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

SIMILARITY comments

Index of protein domains and families

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 16

Human chromosome 16: entries, gene names and cross-references to MIM