AIF (AIFM1) (NM_001130847) Human Untagged Clone

CAT#: SC325773

AIFM1 (untagged)-Human apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 5

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: AIFM1
• Synonyms: AIF; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001130847, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGTTCCGGTGTGGAGGCCTGGCGGCGGGTGCTTTGAAGCAGAAGCTGGTGCCCTTGGTGCGGACCGTGT
  GCGTCCGAAGCCCGAGGCAGAGGAACCGGCTCCCAGGCAACTTGTTCCAGCGATGGCATGTTCCTCTAGA
  ACTCCAGATGACAAGACAAATGGCTAGCTCTGGTGCATCAGGGGGCAAAATCGATAATTCTGTGTTAGTC
  CTTATTGTGGGCTTATCAACAGTAGGAGCTGGTGCCTATGCCTACAAGACTATGAAAGAGGATGAAAAAA
  GATACAATGAAAGAATTTCAGGGTTAGGGCTGACACCAGAACAGAAACAGAAAAAGGCCGCGTTATCTGC
  TTCAGAAGGAGAGGAAGTTCCTCAAGACAAGGCGCCAAGTCATGTTCCTTTCCTGCTAATTGGTGGAGGC
  ACAGCTGCTTTTGCTGCAGCCAGATCCATCCGGGCTCGGGATCCTGGGGCCAGGGTACTGATTGTATCTG
  AAGATCCTGAGCTGCCGTACATGCGACCTCCTCTTTCAAAAGAACTGTGGTTTTCAGATGACCCAAATGT
  CACAAAGACACTGCGATTCAAACAGTGGAATGGAAAAGAGAGAAGCATATATTTCCAGCCACCTTCTTTC
  TATGTCTCTGCTCAGGACCTGCCTCATATTGAGAATGGTGGTGTGGCTGTCCTCACTGGGAAGAAGGTAG
  TACAGCTGGATGTGAGAGACAACATGGTGAAACTTAATGATGGCTCTCAAATAACCTATGAAAAGTGCTT
  GATTGCAACAGGAGGTACTCCAAGAAGTCTGTCTGCCATTGATAGGGCTGGAGCAGAGGTGAAGAGTAGA
  ACAACGCTTTTCAGAAAGATTGGAGACTTTAGAAGCTTGGAGAAGATTTCACGGGAAGTCAAATCAATTA
  CGATTATCGGTGGGGGCTTCCTTGGTAGCGAACTGGCCTGTGCTCTTGGCAGAAAGGATATATGA
  
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001130847
• ORF Size: 975 bp
• OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
• OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.

Reference Data

• RefSeq: NM_001130847.3, NP_001124319.1
• RefSeq Size: 2492
• RefSeq ORF: 975
• Locus ID: 9131
• Protein Families: Druggable Genome, Transmembrane
• Protein Pathways: Apoptosis
• Gene Summary: This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]
  Transcript Variant: This variant (5) contains an additional internal exon, which results in a distinct 3' coding region and differences in the 3' UTR, compared to variant 1. The encoded isoform (AIFsh2, also known as AIFshort2) has a distinct C-terminus and is shorter than isoform AIF. CCDS Note: This CCDS represents the AIFsh2 isoform described in PMID:16644725. The transcript is a candidate for nonsense-mediated mRNA decay (NMD), but the protein is represented based on evidence for the endogenous protein in PMID:16644725.