Aliases for SEM1 Gene
External Ids for SEM1 Gene
Previous HGNC Symbols for SEM1 Gene
The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
GeneCards Summary for SEM1 Gene
SEM1 (SEM1, 26S Proteasome Complex Subunit) is a Protein Coding gene. Diseases associated with SEM1 include Split Foot and Split Hand-Split Foot Malformation. Among its related pathways are RET signaling and Regulation of activated PAK-2p34 by proteasome mediated degradation.
UniProtKB/Swiss-Prot for SEM1 Gene
Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, DSS1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. R-loop accumulation increases in DSS1-depleted cells.