Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
GNPAT (Glyceronephosphate O-Acyltransferase) is a Protein Coding gene. Diseases associated with GNPAT include Rhizomelic Chondrodysplasia Punctata, Type 2 and Rhizomelic Chondrodysplasia Punctata. Among its related pathways are triacylglycerol biosynthesis and Glycerophospholipid Biosynthetic Pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is GPAM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0008374 | O-acyltransferase activity | IEA | -- |
GO:0016287 | glycerone-phosphate O-acyltransferase activity | IEA,TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005777 | peroxisome | IEA,NAS | 9459311 |
GO:0005778 | peroxisomal membrane | IBA,TAS | -- |
GO:0005782 | peroxisomal matrix | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Metabolism |
.40
|
|
3 | Glycerophospholipid Biosynthetic Pathway | ||
4 | Peroxisome | ||
5 | Peroxisomal lipid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006625 | protein targeting to peroxisome | TAS | -- |
GO:0006631 | fatty acid metabolic process | IBA | 21873635 |
GO:0006650 | glycerophospholipid metabolic process | IEA | -- |
GO:0006654 | phosphatidic acid biosynthetic process | TAS | -- |
GO:0007416 | synapse assembly | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GNPAT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GNPAT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GNPAT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gnpat 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gnpat 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GNPAT 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GNPAT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GNPAT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GNPAT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gnpat 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4034 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gnpat 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Dhap-at 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001908 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | acl-7 30 31 |
|
OneToOne | |
Y46G5A.21 32 |
|
|
|||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11282 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
874169 | Uncertain Significance: Rhizomelic chondrodysplasia punctata type 2 | 231,273,987(+) |
C/T NM_014236.4(GNPAT):c.1668C>T (p.Ile556=) |
SYNONYMOUS | |
874170 | Uncertain Significance: Rhizomelic chondrodysplasia punctata type 2 | 231,273,997(+) |
G/A NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys) |
MISSENSE | |
874171 | Uncertain Significance: Rhizomelic chondrodysplasia punctata type 2 | 231,274,032(+) |
A/G NM_014236.4(GNPAT):c.1713A>G (p.Gly571=) |
SYNONYMOUS | |
875053 | Uncertain Significance: Rhizomelic chondrodysplasia punctata type 2 | 231,266,169(+) |
C/T NM_014236.4(GNPAT):c.924+4C>T |
INTRON | |
875054 | Uncertain Significance: Rhizomelic chondrodysplasia punctata type 2 | 231,266,282(+) |
G/A NM_014236.4(GNPAT):c.930G>A (p.Leu310=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3589093 | CNV | gain | 21293372 |
esv3589106 | CNV | gain | 21293372 |
nsv1000488 | CNV | gain | 25217958 |
nsv1011066 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
rhizomelic chondrodysplasia punctata, type 2 |
|
|
rhizomelic chondrodysplasia punctata |
|
|
peroxisomal disease |
|
|
chondrodysplasia punctata syndrome |
|
|
zellweger syndrome |
|
|