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 (C-17) - sc-5736 from Santa Cruz Biotechnology
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DSS1 (FL-70) - sc-28848 from Santa Cruz Biotechnology
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DSS1 (N-15) - sc-5733 from Santa Cruz Biotechnology
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Anti-SHSF1 / SHFM1 Antibody (aa57-70) IHC-plus⢠- LS-B899 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (aa57-70) - LS-C3000 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (aa57-70) - LS-C54739 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, AP) - LS-C225188 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, APC) - LS-C225189 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, Biotin) - LS-C225190 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, FITC) - LS-C225191 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, Azide-free, HRP) - LS-C225192 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, PE) - LS-C225193 from LifeSpan Bioscience
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Anti-SHSF1 / SHFM1 Antibody (N-Terminus, Azide-free) - LS-C330415 from LifeSpan Bioscience
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DSS1 Antibody - NB100-1334 from Novus Biologicals
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DSS1 Antibody - NBP1-02522 from Novus Biologicals
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Anti-DSS1 (N-term) antibody produced in rabbit - SAB1300344 from Sigma-Aldrich
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Anti-SHFM1 (C-terminal) antibody produced in goat - SAB2501913 from Sigma-Aldrich
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DSS1--SHFM1-Antibody-C-Term - AF2377a from Abgent, a WuXi AppTec company
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DSS1 antibody [N1C3] - GTX100089 from GeneTex
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DSS1 antibody, C-term - GTX25649 from GeneTex
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Goat Anti-DSS1 / SHFM1 Antibody (OAEB00356) - OAEB00356 from Aviva Systems Biology
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SHFM1 antibody - 70R-20257 from Fitzgerald
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ECD antibody - 70R-16985 from Fitzgerald
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Anti -DSS1 (26S Proteasome Complex Subunit DSS1, Split Hand/Foot Malformation Type 1Protein, Deleted In Split Hand/Split Foot Protein 1, Split Hand/Foot Deleted Protein 1,SHFM1, SHFDG1) - D9642-01D from USBiological Life Science
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Anti -DSS1 (26S Proteasome Complex Subunit DSS1, Split Hand/Foot Malformation Type 1Protein, Deleted In Split Hand/Split Foot Protein 1, Split Hand/Foot Deleted Protein 1,SHFM1, SHFDG1) - 150338 from USBiological Life Science
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