Gene/Proteome Database (LMPD)

LMPD ID
LMP012363
Gene ID
93210
Species
Homo sapiens (Human)
Gene Name
post-GPI attachment to proteins 3
Gene Symbol
PGAP3
Synonyms
CAB2; PERLD1; PP1498; hCOS16; AGLA546;
Chromosome
17
Map Location
17q12
Summary
This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
Orthologs
View orthologs and multiple alignments for PGAP3

Proteins

post-GPI attachment to proteins factor 3 isoform 1 precursor
Refseq ID NP_219487
Protein GI 45505180
UniProt ID Q96FM1
mRNA ID NM_033419
Length 320
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD
sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1797 peptide sequence: MAGLAARLVLLAGAAALASG sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1797 peptide sequence: MAGLAARLVLLAGAAALASG sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1797 peptide sequence: MAGLAARLVLLAGAAALASG sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1797 peptide sequence: MAGLAARLVLLAGAAALASG sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1797 peptide sequence: MAGLAARLVLLAGAAALASG sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1797 peptide sequence: MAGLAARLVLLAGAAALASG mat_peptide: 21..320 product: Post-GPI attachment to proteins factor 3 experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (Q96FM1.2) calculated_mol_wt: 34696 peptide sequence: SQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD
post-GPI attachment to proteins factor 3 isoform 2 precursor
Refseq ID NP_001278655
Protein GI 619726944
UniProt ID Q96FM1
mRNA ID NM_001291726
Length 269
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD
post-GPI attachment to proteins factor 3 isoform 3 precursor
Refseq ID NP_001278657
Protein GI 619328895
UniProt ID Q96FM1
mRNA ID NM_001291728
Length 299
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD
post-GPI attachment to proteins factor 3 isoform 4 precursor
Refseq ID NP_001278659
Protein GI 619328939
UniProt ID Q96FM1
mRNA ID NM_001291730
Length 206
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVSFLEDDSLYLLKESEDKFKLD
post-GPI attachment to proteins factor 3 isoform 5 precursor
Refseq ID NP_001278661
Protein GI 619328971
UniProt ID Q96FM1
mRNA ID NM_001291732
Length 185
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWKMDYFCASTVILHSIYLCCVSFLEDDSLYLLKESEDKFKLD
post-GPI attachment to proteins factor 3 isoform 6 precursor
Refseq ID NP_001278662
Protein GI 619328947
UniProt ID Q96FM1
mRNA ID NM_001291733
Length 148
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWLSGR

Gene Information

Entrez Gene ID
93210
Gene Name
post-GPI attachment to proteins 3
Gene Symbol
PGAP3
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IEA:UniProtKB-KW C Golgi apparatus
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0031227 IDA:UniProtKB C intrinsic component of endoplasmic reticulum membrane
GO:0016788 IMP:UniProtKB F hydrolase activity, acting on ester bonds
GO:0006506 IEA:UniProtKB-KW P GPI anchor biosynthetic process
GO:0006505 IMP:UniProtKB P GPI anchor metabolic process

Domain Information

InterPro Annotations

Accession Description
IPR007217 Per1-like

UniProt Annotations

Entry Information

Gene Name
post-GPI attachment to proteins 3
UniProt ID
Q96FM1
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96FM1-1; Sequence=Displayed; Name=2; IsoId=Q96FM1-2; Sequence=VSP_034158; Note=No experimental confirmation available.; Name=3; IsoId=Q96FM1-3; Sequence=VSP_057229; Note=No experimental confirmation available;
Disease Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]: An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase Note=The disease is caused by mutations affecting the gene represented in this entry.
Function Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable)
Miscellaneous When transfected in S.cerevisiae, it can complement the absence of yeast of PER1 protein, suggesting a conserved role in lipid remodeling steps of GPI-anchor maturation.
Sequence Caution Sequence=BAC55580.1; Type=Frameshift; Positions=164, 174, 176, 197; Evidence= ;
Similarity Belongs to the PGAP3 family
Subcellular Location Golgi apparatus membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Mainly localizes to Golgi apparatus
Tissue Specificity Ubiquitously expressed, with highest levels in thyroid and placenta

Identical and Related Proteins

Unique RefSeq proteins for LMP012363 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
45505180 RefSeq NP_219487 320 post-GPI attachment to proteins factor 3 isoform 1 precursor
619726944 RefSeq NP_001278655 269 post-GPI attachment to proteins factor 3 isoform 2 precursor
619328895 RefSeq NP_001278657 299 post-GPI attachment to proteins factor 3 isoform 3 precursor
619328939 RefSeq NP_001278659 206 post-GPI attachment to proteins factor 3 isoform 4 precursor
619328971 RefSeq NP_001278661 185 post-GPI attachment to proteins factor 3 isoform 5 precursor
619328947 RefSeq NP_001278662 148 post-GPI attachment to proteins factor 3 isoform 6 precursor

Identical Sequences to LMP012363 proteins

Reference Database Accession Length Protein Name

Related Sequences to LMP012363 proteins

Reference Database Accession Length Protein Name