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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]
PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V) is a Protein Coding gene. Diseases associated with PIGV include Hyperphosphatasia With Mental Retardation Syndrome 1 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Metabolism of proteins and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and mannosyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000009 | alpha-1,6-mannosyltransferase activity | IEA | -- |
GO:0000030 | mannosyltransferase activity | IMP | 15623507 |
GO:0004376 | glycolipid mannosyltransferase activity | TAS | -- |
GO:0005515 | protein binding | IPI | 32814053 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 15623507 |
GO:0031501 | mannosyltransferase complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
2 | Metabolism of proteins | ||
3 | Metabolism | ||
4 | Post-translational modification- synthesis of GPI-anchored proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006506 | GPI anchor biosynthetic process | IBA,IMP | 15623507 |
GO:0016254 | preassembly of GPI anchor in ER membrane | TAS | -- |
GO:0097502 | mannosylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ceramide NG | Experimental | Pharma | 0 | |||
Phytosphingosine | Experimental | Pharma | 0 | |||
Sphingosine | Experimental | Pharma | 0 | |||
sphinganine | Pharma | 0 | ||||
Sphingosine-1-phosphate | Pharma | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Dehydrosphinganine |
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16105-69-4 |
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3-O-Sulfogalactosylceramide (d18:1/12:0) |
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852100-88-0 |
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3-O-Sulfogalactosylceramide (d18:1/14:0) |
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3-O-Sulfogalactosylceramide (d18:1/16:0) |
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862509-48-6 |
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3-O-Sulfogalactosylceramide (d18:1/18:0) |
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244215-65-4 |
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ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | · | 8g | · | 8h | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIGV 30 |
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Cow (Bos Taurus) |
Mammalia | PIGV 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZDHHC18 30 |
|
||
PIGV 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Pigv 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pigv 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIGV 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIGV 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIGV 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIGV 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pigv 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | pigv 30 |
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||
zdhhc18a 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | veg 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001339 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T09B4.1 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G11880 30 |
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Rice (Oryza sativa) |
Liliopsida | Os12g0498700 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gpi18 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
871134 | Pathogenic/Likely Pathogenic: Hyperphosphatasia with mental retardation syndrome 1; not provided | 26,794,641(+) |
C/T NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
873720 | Uncertain Significance: Hyperphosphatasia with mental retardation syndrome 1 | 26,788,258(+) |
G/A NM_017837.4(PIGV):c.-68G>A |
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
873721 | Uncertain Significance: Hyperphosphatasia with mental retardation syndrome 1 | 26,790,897(+) |
A/G NM_017837.4(PIGV):c.78+4A>G |
INTRON | |
873722 | Uncertain Significance: Hyperphosphatasia with mental retardation syndrome 1 | 26,794,257(+) |
G/A NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
873723 | Uncertain Significance: Hyperphosphatasia with mental retardation syndrome 1 | 26,794,299(+) |
C/T NM_017837.4(PIGV):c.265C>T (p.Pro89Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1000012 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperphosphatasia with mental retardation syndrome 1 |
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hyperphosphatasia-intellectual disability syndrome |
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anterior segment dysgenesis 4 |
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multiple congenital anomalies-hypotonia-seizures syndrome |
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multiple congenital anomalies-hypotonia-seizures syndrome 2 |
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