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Gene id 10262
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol SF3B4   Gene   UCSC   Ensembl
Aliases AFD1, Hsh49, SAP49, SF3b49
Gene name splicing factor 3b subunit 4
Alternate names splicing factor 3B subunit 4, SAP 49, SF3b50, pre-mRNA-splicing factor SF3b 49 kDa subunit, spliceosomal protein, spliceosome-associated protein (U2 snRNP), spliceosome-associated protein 49, splicing factor 3b, subunit 4, 49kD, splicing factor 3b, subunit 4, 49k,
Gene location 1q21.2 (149927802: 149923316)     Exons: 6     NC_000001.11
Gene summary(Entrez) This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involv
OMIM 602948

Protein Summary
Protein general information Q15427  

Name: Splicing factor 3B subunit 4 (Pre mRNA splicing factor SF3b 49 kDa subunit) (Spliceosome associated protein 49) (SAP 49)

Length: 424  Mass: 44386

Sequence MAAGPISERNQDATVYVGGLDEKVSEPLLWELFLQAGPVVNTHMPKDRVTGQHQGYGFVEFLSEEDADYAIKIMN
MIKLYGKPIRVNKASAHNKNLDVGANIFIGNLDPEIDEKLLYDTFSAFGVILQTPKIMRDPDTGNSKGYAFINFA
SFDASDAAIEAMNGQYLCNRPITVSYAFKKDSKGERHGSAAERLLAAQNPLSQADRPHQLFADAPPPPSAPNPVV
SSLGSGLPPPGMPPPGSFPPPVPPPGALPPGIPPAMPPPPMPPGAAGHGPPSAGTPGAGHPGHGHSHPHPFPPGG
MPHPGMSQMQLAHHGPHGLGHPHAGPPGSGGQPPPRPPPGMPHPGPPPMGMPPRGPPFGSPMGHPGPMPPHGMRG
PPPLMPPHGYTGPPRPPPYGYQRGPLPPPRPTPRPPVPPRGPLRGPLPQ
Structural information
Protein Domains
 (13..9-)
(/note="RRM-1)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
(100..17-)
(/note="RRM-2)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
Interpro:  IPR012677  IPR035979  IPR000504  IPR034158  IPR034159  
Prosite:   PS50102
CDD:   cd12334 cd12335

PDB:  		 1X5T 5GVQ 5Z56 5Z57 5Z58 6AH0 6QX9
PDBsum:   1X5T 5GVQ 5Z56 5Z57 5Z58 6AH0 6QX9
MINT:  
STRING:   ENSP00000271628
Other Databases GeneCards:  SF3B4  Malacards:  SF3B4

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005681 spliceosomal complex
 IDA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IC biological process
GO:1990904 ribonucleoprotein complex
 IBA cellular component
GO:0051252 regulation of RNA metabol
ic process
 IBA biological process
GO:0048026 positive regulation of mR
NA splicing, via spliceos
ome
 IBA biological process
GO:0005730 nucleolus
 IBA cellular component
GO:0005689 U12-type spliceosomal com
plex
 IBA cellular component
GO:0005681 spliceosomal complex
 IBA cellular component
GO:0005634 nucleus
 IBA cellular component
GO:0003723 RNA binding
 IBA molecular function
GO:0005689 U12-type spliceosomal com
plex
 IDA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IDA biological process
GO:0071005 U2-type precatalytic spli
ceosome
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0003676 nucleic acid binding
 IEA molecular function
GO:0005681 spliceosomal complex
 IEA cellular component
GO:0003723 RNA binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0008380 RNA splicing
 IEA biological process
GO:0006397 mRNA processing
 IEA biological process
GO:0008380 RNA splicing
 TAS biological process
GO:0006397 mRNA processing
 TAS biological process
GO:0000375 RNA splicing, via transes
terification reactions
 TAS biological process
GO:0005681 spliceosomal complex
 TAS cellular component
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:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0048026 positive regulation of mR
NA splicing, via spliceos
ome
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0003723 RNA binding
 HDA molecular function
GO:0003723 RNA binding
 HDA molecular function
GO:1990935 splicing factor binding
 IDA molecular function
GO:1990935 splicing factor binding
 IDA molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005681 spliceosomal complex
 IDA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IC biological process
GO:1990904 ribonucleoprotein complex
 IBA cellular component
GO:0051252 regulation of RNA metabol
ic process
 IBA biological process
GO:0048026 positive regulation of mR
NA splicing, via spliceos
ome
 IBA biological process
GO:0005730 nucleolus
 IBA cellular component
GO:0005689 U12-type spliceosomal com
plex
 IBA cellular component
GO:0005681 spliceosomal complex
 IBA cellular component
GO:0005634 nucleus
 IBA cellular component
GO:0003723 RNA binding
 IBA molecular function
GO:0005689 U12-type spliceosomal com
plex
 IDA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IDA biological process
GO:0071005 U2-type precatalytic spli
ceosome
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0003676 nucleic acid binding
 IEA molecular function
GO:0005681 spliceosomal complex
 IEA cellular component
GO:0003723 RNA binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0008380 RNA splicing
 IEA biological process
GO:0006397 mRNA processing
 IEA biological process
GO:0008380 RNA splicing
 TAS biological process
GO:0006397 mRNA processing
 TAS biological process
GO:0000375 RNA splicing, via transes
terification reactions
 TAS biological process
GO:0005681 spliceosomal complex
 TAS cellular component
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:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0048026 positive regulation of mR
NA splicing, via spliceos
ome
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0003723 RNA binding
 HDA molecular function
GO:0003723 RNA binding
 HDA molecular function
GO:1990935 splicing factor binding
 IDA molecular function
GO:1990935 splicing factor binding
 IDA molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component

KEGG pathways

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Pathway idPathway name
hsa03040Spliceosome

Diseases

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Associated diseases References
Acrofacial dysostosis KEGG:H01376
Acrofacial dysostosis KEGG:H01376
Aberrant CpGs in Low Motility Sperm MIK: 21674046

PubMed references

Expand All | Collapse All
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