RBCC Red Blood Cell Collection

SF3B4_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SF3B4 , SAP49
Protein names and data: SF3B4_HUMAN , Splicing factor 3B subunit 4 , Pre-mRNA-splicing factor SF3b 49 kDa subunit; SF3b50; Spliceosome-associated protein 49; SAP 49 Lenght: 424 a.a.
Mass: 44386 Da
fasta formatted sequence
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.
Disease: ( OMIM: 154400 605593 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus (By similarity).

Database cross-references

UniProt: Q15427
Ensembl: ENST00000271628
Ensembl: ENST00000582851
MIM: 154400
MIM: 605593
neXtProt: NX_Q15427
Antibodypedia: Q15427 (may not find the protein thus also not any antibody)
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