FH (NM_000143) Human Mutant ORF Clone

CAT#: RC401088

FH Mutant (P174R), Myc-DDK-tagged ORF clone of Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein as transfection-ready DNA

Specifications

Product Data

• Mutation Description: P174R
• Affected Codon#: 174
• Affected NT#: 521
• Tag: Myc-DDK
• Effect: Fumrse defiieny
• Symbol: FH
• Synonyms: FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_000143
• ORF Size: 1530 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC401088 representing NM_000143
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGTACCGAGCACTTCGGCTCCTCGCGCGCTCGCGTCCCCTCGTGCGGGCTCCAGCCGCAGCCTTAGCTT
  CGGCTCCCGGCTTGGGTGGCGCGGCCGTGCCCTCGTTTTGGCCTCCGAACGCGGCTCGAATGGCAAGCCA
  AAATTCCTTCCGGATAGAATATGATACCTTTGGTGAACTAAAGGTGCCAAATGATAAGTATTATGGCGCC
  CAGACCGTGAGATCTACGATGAACTTTAAGATTGGAGGTGTGACAGAACGCATGCCAACCCCAGTTATTA
  AAGCTTTTGGCATCTTGAAGCGAGCGGCCGCTGAAGTAAACCAGGATTATGGTCTTGATCCAAAGATTGC
  TAATGCAATAATGAAGGCAGCAGATGAGGTAGCTGAAGGTAAATTAAATGATCATTTTCCTCTCGTGGTA
  TGGCAGACTGGATCAGGAACTCAGACAAATATGAATGTAAATGAAGTCATTAGCAATAGAGCAATTGAAA
  TGTTAGGAGGTGAACTTGGCAGCAAGATACGTGTGCATCCCAACGATCATGTTAATAAAAGCCAGAGCTC
  AAATGATACTTTTCCCACAGCAATGCACATTGCTGCTGCAATAGAAGTTCATGAAGTACTGTTACCAGGA
  CTACAGAAGTTACATGATGCTCTTGATGCAAAATCCAAAGAGTTTGCACAGATCATCAAGATTGGACGTA
  CTCATACTCAGGATGCTGTTCCACTTACTCTTGGGCAGGAATTTAGTGGTTATGTTCAACAAGTAAAATA
  TGCAATGACAAGAATAAAAGCTGCCATGCCAAGAATCTATGAGCTCGCAGCTGGAGGCACTGCTGTTGGT
  ACAGGTTTAAATACTAGAATTGGCTTTGCAGAAAAGGTTGCTGCAAAAGTGGCTGCACTTACAGGCTTGC
  CTTTTGTCACTGCTCCGAATAAATTTGAAGCTCTGGCTGCTCATGACGCTCTGGTTGAGCTCAGTGGAGC
  CATGAACACTACTGCCTGCAGTCTGATGAAGATAGCAAATGATATTCGATTTTTGGGTTCTGGTCCTCGG
  TCAGGTCTGGGAGAATTGATCTTGCCTGAAAATGAACCAGGAAGCAGTATCATGCCAGGCAAGGTGAACC
  CTACTCAGTGTGAAGCAATGACCATGGTTGCAGCCCAAGTCATGGGGAACCATGTTGCTGTCACTGTCGG
  AGGCAGCAATGGACATTTTGAGTTGAATGTTTTCAAGCCAATGATGATTAAAAATGTGTTACACTCAGCC
  AGGCTGCTGGGGGATGCTTCAGTTTCCTTTACAGAAAACTGCGTGGTGGGAATCCAGGCCAATACAGAAA
  GGATCAACAAGCTGATGAATGAGTCTCTAATGTTGGTGACAGCTCTCAATCCTCATATAGGGTATGACAA
  GGCAGCAAAGATTGCTAAGACAGCACACAAAAATGGATCAACCTTAAAGGAAACTGCTATCGAACTTGGC
  TATCTCACAGCAGAGCAGTTTGACGAATGGGTAAAACCTAAGGACATGCTGGGTCCAAAG
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC401088 representing NM_000143
  Red=Cloning site Green=Tags(s)
  
  MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGELKVPNDKYYGA
  QTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVV
  WQTGSGTQTNMNVNEVISNRAIEMLGGELGSKIRVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPG
  LQKLHDALDAKSKEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVG
  TGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLGSGPR
  SGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSA
  RLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGSTLKETAIELG
  YLTAEQFDEWVKPKDMLGPK
  
  SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene
• OTI Disclaimer: Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery.
  
  The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
• OTI Annotation: This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
• Product Components: The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).

Reference Data

• RefSeq: NP_000134
• RefSeq Size: 1530 bp
• RefSeq ORF: 1533 bp
• Locus ID: 2271
• Cytogenetics: 1q43
• Domains: lyase_1
• Protein Families: Druggable Genome
• Protein Pathways: Citrate cycle (TCA cycle), Metabolic pathways, Pathways in cancer, Renal cell carcinoma
• MW: 56.1 kDa
• Gene Summary: The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]