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Reviewed, UniProtKB/Swiss-Prot Q15393 (SF3B3_HUMAN)

Last modified November 25, 2008. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Splicing factor 3B subunit 3
Alternative name(s):
    Spliceosome-associated protein 130
      Short name=SAP 130
    Pre-mRNA-splicing factor SF3b 130 kDa subunit
      Short name=SF3b130
    STAF130
Gene names
Name: SF3B3
Synonyms: KIAA0017, SAP130
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1217 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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, at least composed of AQR, ASCC3L1, C19orf29, CDC40, CDC5L, CRNKL1, DDX23, DDX41, DDX48, DDX5, DGCR14, DHX35, DHX38, DHX8, EFTUD2, FRG1, GPATC1, HNRPA1, HNRPA2B1, HNRPA3, HNRPC, HNRPF, HNRPH1, HNRPK, HNRPM, HNRPR, HNRPU, KIAA1160, KIAA1604, LSM2, LSM3, MAGOH, MORG1, PABPC1, PLRG1, PNN, PPIE, PPIL1, PPIL3, PPWD1, PRPF19, PRPF4B, PRPF6, PRPF8, RALY, RBM22, RBM8A, RBMX, SART1, SF3A1, SF3A2, SF3A3, SF3B1, SF3B2, SF3B3, SFRS1, SKIV2L2, SNRPA1, SNRPB, SNRPB2, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, SNW1, SRRM1, SRRM2, SYF2, SYNCRIP, TFIP11, THOC4, U2AF1, WDR57, XAB2 and ZCCHC8. 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.

Subcellular location

Nucleus.

Sequence similarities

Belongs to the RSE1 family.

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.
Notes: No experimental confirmation available.
Isoform 3 (identifier: Q15393-3)

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

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 and 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 »

27530,210
Isoform 3 [UniParc].

Checksum: E8F6C071997055A0
Show »

39944,606

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: 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 German cDNA consortium
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
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: SUBUNIT.
[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.

Cross-references

Sequence databases

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.
PIRT14779.
RefSeqNP_036558.3.
UniGeneHs.514435

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

DIPDIP:28152N.
IntActQ15393.

PTM databases

PhosphoSiteQ15393.

Proteomic databases

PeptideAtlasQ15393.

Genome annotation databases

EnsemblENSG00000189091. Homo sapiens. [Contig view]
GeneID23450.
KEGGhsa:23450.
NMPDRfig|9606.3.peg.12510.

Organism-specific databases

H-InvDBHIX0013202.
HGNCHGNC:10770. SF3B3.
MIM605592. gene.
PharmGKBPA35688.
HUGESearch...
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ15393.
HOVERGENQ15393.

Enzyme and pathway databases

ReactomeREACT_1675. mRNA Processing.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ15393.
CleanExHS_SAP130.
HS_SF3B3.
GermOnlineENSG00000189091. Homo sapiens.

Family and domain databases

InterProIPR004871. Cleav_polyA_spec_factor_asu_C.
[Graphical view]
PfamPF03178. CPSF_A. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio45731.
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: November 25, 2008
This is version 77 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 16

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

MIM cross-references

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents