InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SF3B4

Summary

InnateDB Protein

IDBP-102026.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SF3B4

Protein Name

splicing factor 3b, subunit 4, 49kDa

Synonyms

AFD1; Hsh49; SAP49; SF3b49;

Species

Homo sapiens

Ensembl Protein

ENSP00000271628

InnateDB Gene

IDBG-102024 (SF3B4)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

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:0000269PubMed:22541558}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 122 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	122 [view]
Protein-Protein	119 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000375	RNA splicing, via transesterification reactions
GO:0000398	mRNA splicing, via spliceosome
GO:0006397	mRNA processing
GO:0008380	RNA splicing
GO:0010467	gene expression