Splicing factor 3B subunit 3 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q15393 (SF3B3_HUMAN)

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

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

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Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	1217 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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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.

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Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Alternative splicing
Gene Ontology (GO)
Biological process	nuclear mRNA splicing, via spliceosome Inferred from Experiment. Source: Reactome protein complex assembly Ref.1 Traceable author statement. Source: ProtInc
Cellular component	small nuclear ribonucleoprotein complex Ref.1 Traceable author statement. Source: ProtInc spliceosome Ref.1 Traceable author statement. Source: ProtInc
Molecular function	RNA splicing factor activity, transesterification mechanism Ref.1 Traceable author statement. Source: UniProtKB nucleic acid binding Inferred from electronic annotation. Source: InterPro protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
CFLAR	O15519	1	EBI-346977,EBI-514941
HCK	P08631	1	EBI-346977,EBI-346340
RNPS1	Q15287	1	EBI-346977,EBI-395959
SMNDC1	O75940	1	EBI-346977,EBI-1052641
SNRPN	P63162	1	EBI-346977,EBI-712493
TNFRSF10D	Q9UBN6	1	EBI-346977,EBI-1044859

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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.

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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

Natural variations

Alternative sequence

1 – 818

818

Missing in isoform 3.

VSP_022977

Alternative sequence

250 – 275

ICSEN…IPRRR → NLSPPFPKAIPALICLDSPV YFCTHP in isoform 2.

VSP_022978

Alternative sequence

276 – 1217

942

Missing in isoform 2.

VSP_022979

Experimental info

Sequence conflict

193

D → G in CAB56791. Ref.1

Sequence conflict

301

F → S in AAH68974. Ref.4

Sequence conflict

302

L → W in CAB56791. Ref.1

Sequence conflict

899

T → I in AAH00463 and AAH03146. Ref.4

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified October 17, 2006. Version 4. Checksum: 35CACAF5ACC32512 Show »	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 « Hide
Isoform 2 [UniParc]. Checksum: D46811A34E142E7D Show »		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 « Hide
Isoform 3 [UniParc]. Checksum: E8F6C071997055A0 Show »		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 « Hide

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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 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.

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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.
PIR	T14779.
RefSeq	NP_036558.3.
UniGene	Hs.514435
3D structure databases
ModBase	Search...
Protein-protein interaction databases
DIP	DIP:28152N.
IntAct	Q15393.
PTM databases
PhosphoSite	Q15393.
Proteomic databases
PeptideAtlas	Q15393.
Genome annotation databases
Ensembl	ENSG00000189091. Homo sapiens. [Contig view]
GeneID	23450.
KEGG	hsa:23450.
NMPDR	fig\|9606.3.peg.12510.
Organism-specific databases
H-InvDB	HIX0013202.
HGNC	HGNC:10770. SF3B3.
MIM	605592. gene.
PharmGKB	PA35688.
HUGE	Search...
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q15393.
HOVERGEN	Q15393.
Enzyme and pathway databases
Reactome	REACT_1675. mRNA Processing. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q15393.
CleanEx	HS_SAP130. HS_SF3B3.
GermOnline	ENSG00000189091. Homo sapiens.
Family and domain databases
InterPro	IPR004871. Cleav_polyA_spec_factor_asu_C. [Graphical view]
Pfam	PF03178. CPSF_A. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	45731.
SOURCE	Search...

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Entry information

Entry name

SF3B3_HUMAN

Accession

Primary (citable) accession number: Q15393
Secondary accession number(s): Q6NTI8

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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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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

Keywords

Gene Ontology (GO)

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Alternative products

Sequence annotation (Features)

Molecule processing

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents