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Protein

Post-GPI attachment to proteins factor 3

Gene

PGAP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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.

GO - Molecular functioni

  • hydrolase activity, acting on ester bonds Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processGPI-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

EuPathDBiHostDB:ENSG00000161395.12
HGNCiHGNC:23719 PGAP3
MIMi611801 gene
neXtProtiNX_Q96FM1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs587777251EnsemblClinVar.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 dbSNP:rs371549948EnsemblClinVar.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 dbSNP:rs587777252EnsemblClinVar.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...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96FM1
PaxDbiQ96FM1
PeptideAtlasiQ96FM1
PRIDEiQ96FM1
ProteomicsDBi76544
76545 [Q96FM1-2]

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000161395 Expressed in 213 organ(s), highest expression level in left lobe of thyroid gland
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
OMAiRFLGMQE
OrthoDBiEOG091G0ARL
PhylomeDBiQ96FM1
TreeFamiTF300031

Family and domain databases

InterProiView protein in InterPro
IPR007217 Per1-like
PANTHERiPTHR13148 PTHR13148, 1 hit
PfamiView protein in Pfam
PF04080 Per1, 1 hit

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

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QQL0J3QQL0_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
70Annotation score:
J3QKU0J3QKU0_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
148Annotation score:
J3KTJ2J3KTJ2_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
150Annotation score:
J3QRN7J3QRN7_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
44Annotation score:
A0A087WTP0A0A087WTP0_HUMAN
Post-GPI attachment to proteins fac...
PGAP3
240Annotation score:

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 dbSNP:rs587777251EnsemblClinVar.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 dbSNP:rs371549948EnsemblClinVar.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 dbSNP:rs587777252EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiPGAP3_HUMAN
AccessioniPrimary (citable) accession number: Q96FM1
Secondary accession number(s): B4DGK7, Q86Z03, Q8NBJ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 119 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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