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Aliases for SF3B4 Gene

Aliases for SF3B4 Gene

  • Splicing Factor 3b, Subunit 4, 49kDa 2 3
  • SAP49 3 4 6
  • Pre-MRNA-Splicing Factor SF3b 49 KDa Subunit 3 4
  • Splicing Factor 3b, Subunit 4, 49kD 2 3
  • Spliceosome-Associated Protein 49 3 4
  • SAP 49 3 4
  • SF3b49 3 6
  • SF3b50 3 4
  • AFD1 3 6
  • Spliceosome-Associated Protein (U2 SnRNP) 3
  • Splicing Factor 3B Subunit 4 3
  • Spliceosomal Protein 3
  • Hsh49 3

External Ids for SF3B4 Gene

Previous GeneCards Identifiers for SF3B4 Gene

  • GC01M147536
  • GC01M145637
  • GC01M146670
  • GC01M147111
  • GC01M146708
  • GC01M148161
  • GC01M149895
  • GC01M121275

Summaries for SF3B4 Gene

Entrez Gene Summary for SF3B4 Gene

  • 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 involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008]

GeneCards Summary for SF3B4 Gene

SF3B4 (Splicing Factor 3b, Subunit 4, 49kDa) is a Protein Coding gene. Diseases associated with SF3B4 include acrofacial dysostosis 1, nager type. Among its related pathways are Gene Expression and Spliceosome. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is PABPC1L2A.

UniProtKB/Swiss-Prot for SF3B4 Gene

  • 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. SF3B4 has been found in complex B and C as well. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron

Gene Wiki entry for SF3B4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SF3B4 Gene

Genomics for SF3B4 Gene

Regulatory Elements for SF3B4 Gene

Genomic Location for SF3B4 Gene

Start:
149,923,317 bp from pter
End:
149,929,322 bp from pter
Size:
6,006 bases
Orientation:
Minus strand

Genomic View for SF3B4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SF3B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF3B4 Gene

Proteins for SF3B4 Gene

  • Protein details for SF3B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15427-SF3B4_HUMAN
    Recommended name:
    Splicing factor 3B subunit 4
    Protein Accession:
    Q15427
    Secondary Accessions:
    • Q5SZ63

    Protein attributes for SF3B4 Gene

    Size:
    424 amino acids
    Molecular mass:
    44386 Da
    Quaternary structure:
    • 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). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. SF3B4 interacts directly with SF3B2.

    Three dimensional structures from OCA and Proteopedia for SF3B4 Gene

neXtProt entry for SF3B4 Gene

Proteomics data for SF3B4 Gene at MOPED

Post-translational modifications for SF3B4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SF3B4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SF3B4 Gene

Domains for SF3B4 Gene

Gene Families for SF3B4 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for SF3B4 Gene

Suggested Antigen Peptide Sequences for SF3B4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15427

UniProtKB/Swiss-Prot:

SF3B4_HUMAN :
  • Q15427
Domain:
  • Contains 2 RRM (RNA recognition motif) domains.
Family:
  • Belongs to the SF3B4 family.
genes like me logo Genes that share domains with SF3B4: view

Function for SF3B4 Gene

Molecular function for SF3B4 Gene

UniProtKB/Swiss-Prot 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. SF3B4 has been found in complex B and C as well. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron

Gene Ontology (GO) - Molecular Function for SF3B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0005515 protein binding IPI 16189514
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SF3B4: view
genes like me logo Genes that share phenotypes with SF3B4: view

Animal Model Products

miRNA for SF3B4 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SF3B4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SF3B4 Gene

Localization for SF3B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SF3B4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SF3B4 Gene COMPARTMENTS Subcellular localization image for SF3B4 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SF3B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9731529
GO:0005689 U12-type spliceosomal complex IDA 15146077
genes like me logo Genes that share ontologies with SF3B4: view

Pathways for SF3B4 Gene

genes like me logo Genes that share pathways with SF3B4: view

Pathways by source for SF3B4 Gene

1 KEGG pathway for SF3B4 Gene

Gene Ontology (GO) - Biological Process for SF3B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000375 RNA splicing, via transesterification reactions TAS 7958871
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing TAS 7958871
GO:0008380 RNA splicing TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with SF3B4: view

Transcripts for SF3B4 Gene

mRNA/cDNA for SF3B4 Gene

Unigene Clusters for SF3B4 Gene

Splicing factor 3b, subunit 4, 49kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SF3B4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SF3B4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for SF3B4 Gene

GeneLoc Exon Structure for
SF3B4
ECgene alternative splicing isoforms for
SF3B4

Expression for SF3B4 Gene

mRNA expression in normal human tissues for SF3B4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SF3B4 Gene

This gene is overexpressed in Pancreas (15.0) and Peripheral blood mononuclear cells (10.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SF3B4 Gene

SOURCE GeneReport for Unigene cluster for SF3B4 Gene Hs.516160

genes like me logo Genes that share expressions with SF3B4: view

Expression partners for SF3B4 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SF3B4 Gene

Orthologs for SF3B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3B4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SF3B4 35
  • 94.42 (n)
  • 99.76 (a)
SF3B4 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SF3B4 35
  • 91.59 (n)
  • 99.29 (a)
SF3B4 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sf3b4 35
  • 90.17 (n)
  • 99.53 (a)
Sf3b4 16
Sf3b4 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SF3B4 35
  • 99.53 (n)
  • 100 (a)
SF3B4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sf3b4 35
  • 91.04 (n)
  • 99.53 (a)
oppossum
(Monodelphis domestica)
Mammalia SF3B4 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SF3B4 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SF3B4 35
  • 78.22 (n)
  • 90.74 (a)
SF3B4 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SF3B4 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Spx-prov 35
African clawed frog
(Xenopus laevis)
Amphibia spx-prov 35
zebrafish
(Danio rerio)
Actinopterygii sf3b4 35
  • 70.25 (n)
  • 84.04 (a)
sf3b4 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Spx 37
  • 81 (a)
Spx 36
  • 69 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sap-49 37
  • 73 (a)
sap-49 36
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSH49 36
  • 33 (a)
OneToMany
HSH49 38
rice
(Oryza sativa)
Liliopsida Os.5866 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4595 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToOne
Species with no ortholog for SF3B4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SF3B4 Gene

ENSEMBL:
Gene Tree for SF3B4 (if available)
TreeFam:
Gene Tree for SF3B4 (if available)

Paralogs for SF3B4 Gene

Paralogs for SF3B4 Gene

Selected SIMAP similar genes for SF3B4 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SF3B4 Gene

genes like me logo Genes that share paralogs with SF3B4: view

Variants for SF3B4 Gene

Sequence variations from dbSNP and Humsavar for SF3B4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs495204 -- 149,926,228(+) ACTTT(C/T)TTCTT intron-variant
rs2305387 -- 149,927,408(+) GGGAC(A/G)GGAGC intron-variant
rs7544531 -- 149,925,325(+) ATATA(A/C/T)CCAAT intron-variant
rs12036309 -- 149,926,103(+) AAAGA(A/G)CCTGT intron-variant
rs12082922 -- 149,926,288(+) ATGTC(C/T)CCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SF3B4 Gene

Variant ID Type Subtype PubMed ID
dgv117e1 CNV Complex 17122850
nsv428235 CNV Gain 18775914
dgv123e1 CNV Complex 17122850
dgv125e1 CNV Complex 17122850
essv23032 CNV CNV 17122850
nsv831537 CNV Loss 17160897

Relevant External Links for SF3B4 Gene

HapMap Linkage Disequilibrium report
SF3B4
Human Gene Mutation Database (HGMD)
SF3B4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SF3B4 Gene

Disorders for SF3B4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SF3B4 Gene in MalaCards »

(1) Diseases for SF3B4 Gene including...

(1) OMIM Diseases for SF3B4 Gene (605593)

UniProtKB/Swiss-Prot

SF3B4_HUMAN
  • Acrofacial dysostosis 1, Nager type (AFD1) [MIM:154400]: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. {ECO:0000269 PubMed:22541558}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SF3B4

Genetic Association Database (GAD)
SF3B4
genes like me logo Genes that share disorders with SF3B4: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for SF3B4 Gene

Publications for SF3B4 Gene

  1. The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. (PMID: 7958871) Champion-Arnaud P. … Reed R. (Genes Dev. 1994) 2 3 4 23
  2. Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor. (PMID: 15351706) Nishanian T.G. … Waldman T. (Biochem. Biophys. Res. Commun. 2004) 3 23
  3. Human immunodeficiency virus type 1 Vpr induces G2 checkpoint activation by interacting with the splicing factor SAP145. (PMID: 16923959) Terada Y. … Yasuda Y. (Mol. Cell. Biol. 2006) 3 23
  4. Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation. (PMID: 17513295) Watanabe H. … Watanabe H. (J. Biol. Chem. 2007) 3 23
  5. Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PMID: 10882114) Das R. … Reed R. (Mol. Cell 2000) 3 4

Products for SF3B4 Gene

Sources for SF3B4 Gene

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