Male Infertility Database

Search Result

Gene id

23450

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

SF3B3 Gene UCSC Ensembl

Aliases

RSE1, SAP130, SF3b130, STAF130

Gene name

splicing factor 3b subunit 3

Alternate names

splicing factor 3B subunit 3, SAP 130, pre-mRNA splicing factor SF3b, 130 kDa subunit, spliceosome-associated protein 130,

Gene location

16q22.1 (70523815: 70577667) Exons: 26 NC_000016.10

Gene summary(Entrez)

This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m

OMIM

610405

Protein Summary

Protein general information

Q15393

Name: Splicing factor 3B subunit 3 (Pre mRNA splicing factor SF3b 130 kDa subunit) (SF3b130) (STAF130) (Spliceosome associated protein 130) (SAP 130)

Length: 1217 Mass: 135577

Sequence

MFLYNLTLQRATGISFAIHGNFSGTKQQEIVVSRGKILELLRPDPNTGKVHTLLTVEVFGVIRSLMAFRLTGGTK
DYIVVGSDSGRIVILEYQPSKNMFEKIHQETFGKSGCRRIVPGQFLAVDPKGRAVMISAIEKQKLVYILNRDAAA
RLTISSPLEAHKANTLVYHVVGVDVGFENPMFACLEMDYEEADNDPTGEAAANTQQTLTFYELDLGLNHVVRKYS
EPLEEHGNFLITVPGGSDGPSGVLICSENYITYKNFGDQPDIRCPIPRRRNDLDDPERGMIFVCSATHKTKSMFF
FLAQTEQGDIFKITLETDEDMVTEIRLKYFDTVPVAAAMCVLKTGFLFVASEFGNHYLYQIAHLGDDDEEPEFSS
AMPLEEGDTFFFQPRPLKNLVLVDELDSLSPILFCQIADLANEDTPQLYVACGRGPRSSLRVLRHGLEVSEMAVS
ELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVLSIGETVEEVTDSGFLGTTPTLSCSLLGDDALVQVYPDGIR
HIRADKRVNEWKTPGKKTIVKCAVNQRQVVIALTGGELVYFEMDPSGQLNEYTERKEMSADVVCMSLANVPPGEQ
RSRFLAVGLVDNTVRIISLDPSDCLQPLSMQALPAQPESLCIVEMGGTEKQDELGERGSIGFLYLNIGLQNGVLL
RTVLDPVTGDLSDTRTRYLGSRPVKLFRVRMQGQEAVLAMSSRSWLSYSYQSRFHLTPLSYETLEFASGFASEQC
PEGIVAISTNTLRILALEKLGAVFNQVAFPLQYTPRKFVIHPESNNLIIIETDHNAYTEATKAQRKQQMAEEMVE
AAGEDERELAAEMAAAFLNENLPESIFGAPKAGNGQWASVIRVMNPIQGNTLDLVQLEQNEAAFSVAVCRFSNTG
EDWYVLVGVAKDLILNPRSVAGGFVYTYKLVNNGEKLEFLHKTPVEEVPAAIAPFQGRVLIGVGKLLRVYDLGKK
KLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFADDTYPRWVTTASLLDYDTVAGADKF
GNICVVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQKAEVIMNYHVGETVLSLQKTTLIPGGSESLVYTTLSGG
IGILVPFTSHEDHDFFQHVEMHLRSEHPPLCGRDHLSFRSYYFPVKNVIDGDLCEQFNSMEPNKQKNVSEELDRT
PPEVSKKLEDIRTRYAF

Structural information

Interpro:	IPR004871 IPR015943 IPR036322
PDB:	5IFE 5O9Z 5Z56 5Z57 5Z58 5ZYA 6AH0 6EN4 6FF4 6FF7 6QX9
PDBsum:	5IFE 5O9Z 5Z56 5Z57 5Z58 5ZYA 6AH0 6EN4 6FF4 6FF7 6QX9
DIP:	28152
MINT:
STRING:	ENSP00000305790

Other Databases

GeneCards: SF3B3 Malacards: SF3B3

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0042177	negative regulation of pr otein catabolic process	IDA	biological process
GO:0000398	mRNA splicing, via splice osome	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0071013	catalytic step 2 spliceos ome	IDA	cellular component
GO:0005689	U12-type spliceosomal com plex	IDA	cellular component
GO:0000398	mRNA splicing, via splice osome	IC	biological process
GO:0000398	mRNA splicing, via splice osome	IDA	biological process
GO:0000398	mRNA splicing, via splice osome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071005	U2-type precatalytic spli ceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071005	U2-type precatalytic spli ceosome	IDA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000398	mRNA splicing, via splice osome	TAS	biological process
GO:0000398	mRNA splicing, via splice osome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000375	RNA splicing, via transes terification reactions	TAS	biological process
GO:0044877	protein-containing comple x binding	IPI	molecular function
GO:0008380	RNA splicing	IC	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042177	negative regulation of pr otein catabolic process	IDA	biological process
GO:0000398	mRNA splicing, via splice osome	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0071013	catalytic step 2 spliceos ome	IDA	cellular component
GO:0005689	U12-type spliceosomal com plex	IDA	cellular component
GO:0000398	mRNA splicing, via splice osome	IC	biological process
GO:0000398	mRNA splicing, via splice osome	IDA	biological process
GO:0000398	mRNA splicing, via splice osome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071005	U2-type precatalytic spli ceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071005	U2-type precatalytic spli ceosome	IDA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000398	mRNA splicing, via splice osome	TAS	biological process
GO:0000398	mRNA splicing, via splice osome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000375	RNA splicing, via transes terification reactions	TAS	biological process
GO:0044877	protein-containing comple x binding	IPI	molecular function
GO:0008380	RNA splicing	IC	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

KEGG pathways

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Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

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Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21674046	Aberrant C pGs in Low Motility Sperm			18	Male infertility	GSE26881	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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