| Gene Symbol |
SHFM1
|
| Entrez Gene |
7979
|
| Alt Symbol |
DSS1, ECD, SEM1, SHFD1, SHSF1, Shfdg1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
split hand/foot malformation (ectrodactyly) type 1
|
| Other Description |
26S proteasome complex subunit DSS1|deleted in split hand/split foot protein 1|deleted in split-hand/split-foot 1|split hand/foot deleted protein 1|split hand/foot malformation type 1 protein
|
| Swissprots |
P60896
|
| Accessions |
AAQ93368 EAL24125 EAW76746 EAW76747 P60896 AK094899 AK291070 BAF83759 AK309241 BC032782 AAH32782 CR456887 CAG33168 U41515 AAA91179 NM_006304 NP_006295
|
| Function |
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. {ECO:0000269|PubMed:15117943, ECO:0000269|PubMed:22307388, ECO:0000269|PubMed:24896180}.
|
| Tissue Specificity |
Expressed in limb bud, craniofacial primordia and skin.
|
| Top Pathways |
Proteasome, Homologous recombination, Epstein-Barr virus infection
|