Aliases for SHFM1 Gene
External Ids for SHFM1 Gene
Previous HGNC Symbols for SHFM1 Gene
Previous GeneCards Identifiers for SHFM1 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 SHFM1 Gene
SHFM1 (Split Hand/Foot Malformation (Ectrodactyly) Type 1) is a Protein Coding gene. Diseases associated with SHFM1 include Split Foot and Split Hand. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Homologous recombination.
UniProtKB/Swiss-Prot for SHFM1 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.