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Protein

Post-GPI attachment to proteins factor 3

Gene

PGAP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).1 Publication

GO - Molecular functioni

  • hydrolase activity, acting on ester bonds Source: UniProtKB

GO - Biological processi

  • GPI anchor biosynthetic process Source: UniProtKB-KW
  • GPI anchor metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Names & Taxonomyi

Protein namesi
Recommended name:
Post-GPI attachment to proteins factor 3
Alternative name(s):
COS16 homolog
Short name:
hCOS16
Gene coamplified with ERBB2 protein
PER1-like domain-containing protein 1
Gene namesi
Name:PGAP3
Synonyms:CAB2, PERLD1
ORF Names:UNQ546/PRO1100
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:23719. PGAP3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 98LumenalSequence analysisAdd BLAST78
Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Topological domaini120 – 135CytoplasmicSequence analysisAdd BLAST16
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 169LumenalSequence analysisAdd BLAST13
Transmembranei170 – 190HelicalSequence analysisAdd BLAST21
Topological domaini191 – 193CytoplasmicSequence analysis3
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Topological domaini215 – 224LumenalSequence analysis10
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Topological domaini246 – 257CytoplasmicSequence analysisAdd BLAST12
Transmembranei258 – 278HelicalSequence analysisAdd BLAST21
Topological domaini279LumenalSequence analysis1
Transmembranei280 – 299HelicalSequence analysisAdd BLAST20
Topological domaini300 – 320CytoplasmicSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase.
See also OMIM:615716
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07115592G → D in HPMRS4; results in loss of function; the mutant localizes to the Golgi apparatus as the wild-type. 1 PublicationCorresponds to variant rs587777251dbSNPEnsembl.1
Natural variantiVAR_071156105P → R in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant rs371549948dbSNPEnsembl.1
Natural variantiVAR_071157305D → G in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant rs587777252dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi93210.
MalaCardsiPGAP3.
MIMi615716. phenotype.
OpenTargetsiENSG00000161395.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA165432310.

Polymorphism and mutation databases

BioMutaiPGAP3.
DMDMi74731724.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000033935621 – 320Post-GPI attachment to proteins factor 3Add BLAST300

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96FM1.
PeptideAtlasiQ96FM1.
PRIDEiQ96FM1.

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in thyroid and placenta.1 Publication

Gene expression databases

BgeeiENSG00000161395.
CleanExiHS_PERLD1.
ExpressionAtlasiQ96FM1. baseline and differential.
GenevisibleiQ96FM1. HS.

Organism-specific databases

HPAiHPA016591.

Interactioni

Protein-protein interaction databases

BioGridi125014. 2 interactors.
STRINGi9606.ENSP00000300658.

Structurei

3D structure databases

ProteinModelPortaliQ96FM1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PGAP3 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2970. Eukaryota.
COG5237. LUCA.
GeneTreeiENSGT00390000001304.
HOGENOMiHOG000210016.
HOVERGENiHBG108243.
InParanoidiQ96FM1.
OMAiAWWLAWC.
OrthoDBiEOG091G0ARL.
PhylomeDBiQ96FM1.
TreeFamiTF300031.

Family and domain databases

InterProiIPR007217. Per1.
[Graphical view]
PANTHERiPTHR13148. PTHR13148. 1 hit.
PfamiPF04080. Per1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96FM1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGLAARLVL LAGAAALASG SQGDREPVYR DCVLQCEEQN CSGGALNHFR
60 70 80 90 100
SRQPIYMSLA GWTCRDDCKY ECMWVTVGLY LQEGHKVPQF HGKWPFSRFL
110 120 130 140 150
FFQEPASAVA SFLNGLASLV MLCRYRTFVP ASSPMYHTCV AFAWVSLNAW
160 170 180 190 200
FWSTVFHTRD TDLTEKMDYF CASTVILHSI YLCCVRTVGL QHPAVVSAFR
210 220 230 240 250
ALLLLMLTVH VSYLSLIRFD YGYNLVANVA IGLVNVVWWL AWCLWNQRRL
260 270 280 290 300
PHVRKCVVVV LLLQGLSLLE LLDFPPLFWV LDAHAIWHIS TIPVHVLFFS
310 320
FLEDDSLYLL KESEDKFKLD
Length:320
Mass (Da):36,475
Last modified:July 5, 2004 - v2
Checksum:iA5B0E170BF969C5A
GO
Isoform 2 (identifier: Q96FM1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     94-144: Missing.

Note: No experimental confirmation available.
Show »
Length:269
Mass (Da):30,670
Checksum:i744A7AB97A288B2C
GO
Isoform 3 (identifier: Q96FM1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-165: Missing.

Note: No experimental confirmation available.
Show »
Length:299
Mass (Da):33,967
Checksum:iBCFFDDEF52190F79
GO

Sequence cautioni

The sequence BAC55580 differs from that shown. Reason: Frameshift at positions 164, 174, 176 and 197.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti153S → P in BAC11642 (PubMed:16303743).Curated1
Sequence conflicti256C → R in BAC11642 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07115592G → D in HPMRS4; results in loss of function; the mutant localizes to the Golgi apparatus as the wild-type. 1 PublicationCorresponds to variant rs587777251dbSNPEnsembl.1
Natural variantiVAR_071156105P → R in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant rs371549948dbSNPEnsembl.1
Natural variantiVAR_071157305D → G in HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant rs587777252dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03415894 – 144Missing in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_057229145 – 165Missing in isoform 3. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB088396 mRNA. Translation: BAC55580.1. Frameshift.
AY358437 mRNA. Translation: AAQ88803.1.
AK294639 mRNA. Translation: BAG57818.1.
AK075474 mRNA. Translation: BAC11642.1.
AC087491 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60592.1.
BC010652 mRNA. Translation: AAH10652.2.
CCDSiCCDS32641.1. [Q96FM1-1]
CCDS77013.1. [Q96FM1-2]
CCDS77015.1. [Q96FM1-3]
RefSeqiNP_001278655.1. NM_001291726.1. [Q96FM1-2]
NP_001278657.1. NM_001291728.1. [Q96FM1-3]
NP_001278659.1. NM_001291730.1.
NP_001278661.1. NM_001291732.1.
NP_001278662.1. NM_001291733.1.
NP_219487.3. NM_033419.4. [Q96FM1-1]
UniGeneiHs.462971.

Genome annotation databases

EnsembliENST00000300658; ENSP00000300658; ENSG00000161395. [Q96FM1-1]
ENST00000378011; ENSP00000367250; ENSG00000161395. [Q96FM1-2]
ENST00000429199; ENSP00000415765; ENSG00000161395. [Q96FM1-3]
GeneIDi93210.
KEGGihsa:93210.
UCSCiuc002hsj.4. human. [Q96FM1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB088396 mRNA. Translation: BAC55580.1. Frameshift.
AY358437 mRNA. Translation: AAQ88803.1.
AK294639 mRNA. Translation: BAG57818.1.
AK075474 mRNA. Translation: BAC11642.1.
AC087491 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60592.1.
BC010652 mRNA. Translation: AAH10652.2.
CCDSiCCDS32641.1. [Q96FM1-1]
CCDS77013.1. [Q96FM1-2]
CCDS77015.1. [Q96FM1-3]
RefSeqiNP_001278655.1. NM_001291726.1. [Q96FM1-2]
NP_001278657.1. NM_001291728.1. [Q96FM1-3]
NP_001278659.1. NM_001291730.1.
NP_001278661.1. NM_001291732.1.
NP_001278662.1. NM_001291733.1.
NP_219487.3. NM_033419.4. [Q96FM1-1]
UniGeneiHs.462971.

3D structure databases

ProteinModelPortaliQ96FM1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125014. 2 interactors.
STRINGi9606.ENSP00000300658.

Polymorphism and mutation databases

BioMutaiPGAP3.
DMDMi74731724.

Proteomic databases

PaxDbiQ96FM1.
PeptideAtlasiQ96FM1.
PRIDEiQ96FM1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300658; ENSP00000300658; ENSG00000161395. [Q96FM1-1]
ENST00000378011; ENSP00000367250; ENSG00000161395. [Q96FM1-2]
ENST00000429199; ENSP00000415765; ENSG00000161395. [Q96FM1-3]
GeneIDi93210.
KEGGihsa:93210.
UCSCiuc002hsj.4. human. [Q96FM1-1]

Organism-specific databases

CTDi93210.
DisGeNETi93210.
GeneCardsiPGAP3.
HGNCiHGNC:23719. PGAP3.
HPAiHPA016591.
MalaCardsiPGAP3.
MIMi611801. gene.
615716. phenotype.
neXtProtiNX_Q96FM1.
OpenTargetsiENSG00000161395.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA165432310.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2970. Eukaryota.
COG5237. LUCA.
GeneTreeiENSGT00390000001304.
HOGENOMiHOG000210016.
HOVERGENiHBG108243.
InParanoidiQ96FM1.
OMAiAWWLAWC.
OrthoDBiEOG091G0ARL.
PhylomeDBiQ96FM1.
TreeFamiTF300031.

Miscellaneous databases

GenomeRNAii93210.
PROiQ96FM1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000161395.
CleanExiHS_PERLD1.
ExpressionAtlasiQ96FM1. baseline and differential.
GenevisibleiQ96FM1. HS.

Family and domain databases

InterProiIPR007217. Per1.
[Graphical view]
PANTHERiPTHR13148. PTHR13148. 1 hit.
PfamiPF04080. Per1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPGAP3_HUMAN
AccessioniPrimary (citable) accession number: Q96FM1
Secondary accession number(s): B4DGK7, Q86Z03, Q8NBJ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: July 5, 2004
Last modified: November 2, 2016
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.