Human Gene PIGV (uc001bmz.3) Description and Page Index
Description: Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA. RefSeq Summary (NM_017837): This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: hg19 chr1:27,114,454-27,124,894 Size: 10,441 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr1:27,117,307-27,124,335 Size: 7,029 Coding Exon Count: 3
ID:PIGV_HUMAN DESCRIPTION: RecName: Full=GPI mannosyltransferase 2; EC=2.4.1.-; AltName: Full=GPI mannosyltransferase II; Short=GPI-MT-II; AltName: Full=Phosphatidylinositol-glycan biosynthesis class V protein; Short=PIG-V; FUNCTION: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. PTM: Not N-glycosylated. DISEASE: Defects in PIGV are the cause of hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300]. It is a syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. SIMILARITY: Belongs to the PIGV family. SEQUENCE CAUTION: Sequence=CAI21625.1; Type=Erroneous gene model prediction; Sequence=CAI21626.1; Type=Erroneous gene model prediction; Sequence=CAI21627.1; Type=Erroneous gene model prediction;
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 Q9NUD9
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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.