Description: Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA. RefSeq Summary (NM_004716): This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]. Transcript (Including UTRs) Position: hg19 chr11:117,075,788-117,102,811 Size: 27,024 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr11:117,076,713-117,100,560 Size: 23,848 Coding Exon Count: 15
ID:PCSK7_HUMAN DESCRIPTION: RecName: Full=Proprotein convertase subtilisin/kexin type 7; EC=3.4.21.-; AltName: Full=Lymphoma proprotein convertase; AltName: Full=Prohormone convertase 7; AltName: Full=Proprotein convertase 7; Short=PC7; AltName: Full=Proprotein convertase 8; Short=PC8; Short=hPC8; AltName: Full=Subtilisin/kexin-like protease PC7; Flags: Precursor; FUNCTION: Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif. CATALYTIC ACTIVITY: Release of mature proteins from their proproteins by cleavage of Arg-Xaa-Xaa-Xaa-Yaa-Arg-|-Zaa bonds, where Xaa can be any amino acid and Yaa is Arg or Lys. COFACTOR: Calcium (By similarity). ENZYME REGULATION: Inhibited by zinc and copper (By similarity). SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein (By similarity). Note=Seems to be localized intracellularly to the trans Golgi network (By similarity). TISSUE SPECIFICITY: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocyte. PTM: Cysteine residues in the cytoplasmic tail are probably palmitoylated. PTM: N-glycosylated. SIMILARITY: Belongs to the peptidase S8 family. SIMILARITY: Contains 1 homo B/P domain.
Iron-Regulatory Proteins Konrad Oexle et al. Human molecular genetics 2011, Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels., Human molecular genetics.
[PubMed 21149283]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16549
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
