Gene Symbol | SHFM1 |
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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 |
DSS1 CRISPR/Cas9 KO Plasmid (h) - sc-404016 from Santa Cruz Biotechnology
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DSS1 HDR Plasmid (h) - sc-404016-HDR from Santa Cruz Biotechnology
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DSS1 Double Nickase Plasmid (h) - sc-404016-NIC from Santa Cruz Biotechnology
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DSS1 Double Nickase Plasmid (h2) - sc-404016-NIC-2 from Santa Cruz Biotechnology
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DSS1 CRISPR Activation Plasmid (h) - sc-404016-ACT from Santa Cruz Biotechnology
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DSS1 CRISPR Activation Plasmid (h2) - sc-404016-ACT-2 from Santa Cruz Biotechnology
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DSS1 Lentiviral Activation Particles (h) - sc-404016-LAC from Santa Cruz Biotechnology
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DSS1 Lentiviral Activation Particles (h2) - sc-404016-LAC-2 from Santa Cruz Biotechnology
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DSS1 siRNA (h) - sc-40502 from Santa Cruz Biotechnology
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DSS1 shRNA Plasmid (h) - sc-40502-SH from Santa Cruz Biotechnology
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DSS1 shRNA (h) Lentiviral Particles - sc-40502-V from Santa Cruz Biotechnology
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GCR2 RNAi - H00011319-R01 from Novus Biologicals
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MISSION® esiRNA - EHU112571 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN19298 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND19298 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR00540 from Sigma-Aldrich
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SHFM1 siRNA (Human) - CRH5330 from Cohesion Biosciences
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SHFM1 - MBS8217158 from MyBioSource
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shRNA set against Human SHFM1(NM_006304.1) - SHG209221 from Creative biogene
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Human SHFM1 siRNA - orb265832 from Biorbyt
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SHFM1 shRNA Plasmid (Human) - CHH5330 from Cohesion Biosciences
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SHFM1 miRNA 3'UTR clone - MiUTR1H-09379 from Creative biogene
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