Human SHFM1 Recombinant Protein (RPPB4669)

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SKU:
RPPB4669
Product type:
Recombinant Protein
Size:
10ug
Species:
Human
Target:
SHFM1
Synonyms:
SHFM1
Synonyms:
Split Hand/Foot Malformation (Ectrodactyly) Type 1
Synonyms:
DSS1
Synonyms:
SHFD1
Source:
Escherichia Coli
Uniprot:
P60896
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Description

Product Name:Human SHFM1 Recombinant Protein
Product Code:RPPB4669
Size:10µg
Species:Human
Target:SHFM1
Synonyms:SHFM1, Split Hand/Foot Malformation (Ectrodactyly) Type 1, DSS1, SHFD1, Deleted In Split Hand/Split Foot Protein 1, Split Hand/Foot Deleted Protein 1, Split Hand/Foot Malformation Type 1 Protein, Deleted In Split-Hand/Foot 1, 26S Proteasome Complex Subunit DSS1, ECD, SEM1, SHSF1, Shfdg1, Deleted In Split-Hand/Split-Foot 1, SHFDG1.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:SHFM1 protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 10% glycerol and 0.1M NaCl.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 85.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMSEKKQP VDLGLLEEDD EFEEFPAEDW AGLDEDEDAH VWEDNWDDDN VEDDFSNQLR AELEKHGYKM ETS

26S proteasome complex subunit DSS1 (SHFM1) has been suggested as a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. SHFM1 is a subunit of the 26S proteasome which plays a part in ubiquitin-dependent proteolysis. SHFM1 binds and stabilizes BRCA2 and is therefore involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. Furthermore, SHFM1 may have a role in the completion of the cell cycle. SHFM1 is a component of the TREX-2 complex (transcription and export complex 2), comprised of at least ENY2, GANP, PCID2, DSS1, and either centrin CETN2 or CETN3.

SHFM1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 93 amino acids (1-70 a.a) and having a molecular mass of 10.7kDa (Molecular size on SDS-PAGE will appear higher).SHFM1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, 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 SEM1-depleted cells.
NCBI Summary: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]
UniProt Code:P60896
NCBI GenInfo Identifier:5453640
NCBI Gene ID:7979
NCBI Accession:NP_006295.1
UniProt Secondary Accession:P60896,Q13437, Q61067,
UniProt Related Accession:P60896,Q6ZVN7
Molecular Weight:8-10 kDa
NCBI Full Name:26S proteasome complex subunit SEM1 isoform 3
NCBI Synonym Full Names:SEM1, 26S proteasome complex subunit
NCBI Official Symbol:SEM1  
NCBI Official Synonym Symbols:ECD; DSS1; SHFD1; SHFM1; SHSF1; Shfdg1; C7orf76  
NCBI Protein Information:26S proteasome complex subunit SEM1
UniProt Protein Name:26S proteasome complex subunit SEM1
UniProt Synonym Protein Names:26S proteasome complex subunit DSS1; Deleted in split hand/split foot protein 1; Split hand/foot deleted protein 1; Split hand/foot malformation type 1 protein
Protein Family:Exoribonuclease
UniProt Gene Name:SEM1  
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