Gene/Proteome Database (LMPD)
LMPD ID
LMP000476
Gene ID
Species
Homo sapiens (Human)
Gene Name
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Gene Symbol
Synonyms
PAFAHG
Alternate Names
platelet-activating factor acetylhydrolase IB subunit gamma; PAFAH subunit gamma; PAF-AH subunit gamma; PAF-AH 29 kDa subunit; PAF-AH1b alpha 1 subunit; PAF acetylhydrolase 29 kDa subunit; platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)
Chromosome
19
Map Location
19q13.1
EC Number
3.1.1.47
Summary
This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Orthologs
Proteins
| platelet-activating factor acetylhydrolase IB subunit gamma | |
|---|---|
| Refseq ID | NP_001139411 |
| Protein GI | 225543097 |
| UniProt ID | Q15102 |
| mRNA ID | NM_001145939 |
| Length | 231 |
| RefSeq Status | REVIEWED |
| MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLVNERQPQARVVVLGLLPRGQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP | |
| platelet-activating factor acetylhydrolase IB subunit gamma | |
|---|---|
| Refseq ID | NP_001139412 |
| Protein GI | 225543099 |
| UniProt ID | Q15102 |
| mRNA ID | NM_001145940 |
| Length | 231 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:225543097 (mRNA isoform) | |
Gene Information
Entrez Gene ID
Gene Name
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005829 | IEA:Ensembl | C | cytosol |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0003847 | IEA:UniProtKB-EC | F | 1-alkyl-2-acetylglycerophosphocholine esterase activity |
| GO:0007420 | IEA:Ensembl | P | brain development |
| GO:0016042 | IEA:UniProtKB-KW | P | lipid catabolic process |
| GO:0006629 | TAS:ProtInc | P | lipid metabolic process |
| GO:0007399 | TAS:ProtInc | P | nervous system development |
| GO:0007283 | IEA:Ensembl | P | spermatogenesis |
KEGG Pathway Links
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR013831 | SGNH_hydro-type_esterase_dom |
UniProt Annotations
Entry Information
Gene Name
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Protein Entry
PA1B3_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate. |
| Function | Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain. |
| Interaction | Q8TBB1:LNX1; NbExp=2; IntAct=EBI-711522, EBI-739832; |
| Similarity | Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily. |
| Similarity | Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily. {ECO:0000305}. |
| Subcellular Location | Cytoplasm. |
| Subunit | Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29 kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic activity. |
| Tissue Specificity | In the adult, expressed in brain, skeletal muscle, kidney, thymus, spleen, colon, testis, ovary and peripheral blood leukocytes. In the fetus, highest expression occurs in brain. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000476 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 225543097 | RefSeq | NP_001139411 | 231 | platelet-activating factor acetylhydrolase IB subunit gamma |
Identical Sequences to LMP000476 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:225543097 | GenBank | JAA39404.1 | 231 | platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) [Pan troglodytes] |
| GI:225543097 | GenBank | JAA39405.1 | 231 | platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) [Pan troglodytes] |
| GI:225543097 | GenBank | JAA39406.1 | 231 | platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) [Pan troglodytes] |
| GI:225543097 | GenBank | AIC49336.1 | 231 | PAFAH1B3, partial [synthetic construct] |
| GI:225543097 | RefSeq | XP_009433963.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform X1 [Pan troglodytes] |
| GI:225543097 | RefSeq | XP_009433964.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform X1 [Pan troglodytes] |
Related Sequences to LMP000476 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:225543097 | RefSeq | XP_003281012.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform 1 [Nomascus leucogenys] |
| GI:225543097 | RefSeq | XP_003281013.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform 2 [Nomascus leucogenys] |
| GI:225543097 | RefSeq | XP_004060886.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform 1 [Gorilla gorilla gorilla] |
| GI:225543097 | RefSeq | XP_004060887.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform 2 [Gorilla gorilla gorilla] |
| GI:225543097 | RefSeq | XP_004060888.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform 3 [Gorilla gorilla gorilla] |
| GI:225543097 | RefSeq | XP_004060889.1 | 231 | PREDICTED: platelet-activating factor acetylhydrolase IB subunit gamma isoform 4 [Gorilla gorilla gorilla] |