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 |
Human DSS1 full length protein - ab131993 from Abcam
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Human DSS1 full length protein - ab174412 from Abcam
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Human DSS1 peptide - ab23110 from Abcam
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ECD Antibody Blocking Peptide - LS-E11621 from LifeSpan Bioscience
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ECD Antibody Blocking Peptide - LS-E14027 from LifeSpan Bioscience
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SHSF1 / SHFM1 Antibody Blocking Peptide - LS-E25633 from LifeSpan Bioscience
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Recombinant Human GCR2 Protein - H00011319-P01 from Novus Biologicals
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DSS1 Recombinant Protein - H00007979-P01 from Novus Biologicals
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Recombinant Human DSS1 Protein - NBP2-22821 from Novus Biologicals
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DSS1 blocking peptide - GTX25649-PEP from GeneTex
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Human ECD protein (GST Tag) - orb138722 from Biorbyt
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SHFM1 protein (His tag) - 80R-3573 from Fitzgerald
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DSS1 Peptide - AC21-0464-P from Abcore
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SHFM1 (1-70, His-tag) - AR51260PU-N from Acris Antibodies
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SHFM1 (1-70, His-tag) - AR51260PU-S from Acris Antibodies
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SHFM1 - H00007979-P01-10 from Acris Antibodies
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SHFM1 - H00007979-P01-25 from Acris Antibodies
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SHFM1, 1-70aa, Human, His tag, E.coli - 01-P2440 from ARP American Research Products
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DSS1 Peptide - 45-500P from ProSci
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SHFM1 fusion protein - Ag4573 from Proteintech Group
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Recombinant Human SHFM1, GST-tagged - SHFM1-2659H from Creative Biomart
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Human ECD / Ecdysoneless homolog Protein (His & GST Tag) - 14311-H20B-50 from Sino Biological
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Recombinant Human 26S proteasome complex subunit DSS1(SHFM1) - CSB-YP021263HU CSB-EP021263HU CSB-BP021263HU CSB-MP021263HU from Cusabio
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SHFM1, 1-70aa, Human, His tag, E.coli - ATGP2440 from ATGen
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26S proteasome complex subunit DSS1 (SHFM1), Recombinant Protein - MBS952957 from MyBioSource
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