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Protein

Post-GPI attachment to proteins factor 2

Gene

PGAP2

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. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Protein family/group databases

TCDBi9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Post-GPI attachment to proteins factor 2
Alternative name(s):
FGF receptor-activating protein 1
Gene namesi
Name:PGAP2
Synonyms:FRAG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:17893. PGAP2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 23CytoplasmicSequence analysisAdd BLAST23
Transmembranei24 – 44HelicalSequence analysisAdd BLAST21
Topological domaini45 – 114LumenalSequence analysisAdd BLAST70
Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Topological domaini136 – 143CytoplasmicSequence analysis8
Transmembranei144 – 164HelicalSequence analysisAdd BLAST21
Topological domaini165 – 185LumenalSequence analysisAdd BLAST21
Transmembranei186 – 206HelicalSequence analysisAdd BLAST21
Topological domaini207 – 209CytoplasmicSequence analysis3
Transmembranei210 – 230HelicalSequence analysisAdd BLAST21
Topological domaini231 – 254LumenalSequence analysisAdd BLAST24

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • Golgi membrane Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • nucleus Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase.
See also OMIM:614207
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06966416R → W in HPMRS3. 1 PublicationCorresponds to variant rs773359554dbSNPEnsembl.1
Natural variantiVAR_06966599Y → C in HPMRS3. 1 Publication1
Natural variantiVAR_069666127L → S in HPMRS3. 1 Publication1
Natural variantiVAR_069667160T → I in HPMRS3. 1 PublicationCorresponds to variant rs780188037dbSNPEnsembl.1
Natural variantiVAR_069668177R → P in HPMRS3. 1 PublicationCorresponds to variant rs774843232dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi27315.
MalaCardsiPGAP2.
MIMi614207. phenotype.
OpenTargetsiENSG00000148985.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA165543520.

Polymorphism and mutation databases

BioMutaiPGAP2.
DMDMi544584767.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003260941 – 254Post-GPI attachment to proteins factor 2Add BLAST254

Proteomic databases

PaxDbiQ9UHJ9.
PeptideAtlasiQ9UHJ9.
PRIDEiQ9UHJ9.

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in testis and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000148985.
ExpressionAtlasiQ9UHJ9. baseline and differential.
GenevisibleiQ9UHJ9. HS.

Organism-specific databases

HPAiHPA063099.

Interactioni

Subunit structurei

Interacts with PGAP2IP.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
KRTAP10-9P604113EBI-10321427,EBI-10172052

Protein-protein interaction databases

BioGridi118133. 8 interactors.
IntActiQ9UHJ9. 10 interactors.
STRINGi9606.ENSP00000278243.

Structurei

3D structure databases

ProteinModelPortaliQ9UHJ9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PGAP2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3979. Eukaryota.
ENOG410XT2T. LUCA.
GeneTreeiENSGT00510000047299.
HOGENOMiHOG000006821.
HOVERGENiHBG053417.
InParanoidiQ9UHJ9.
TreeFamiTF314112.

Family and domain databases

InterProiIPR019402. Frag1/DRAM/Sfk1.
[Graphical view]
PfamiPF10277. Frag1. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: Q9UHJ9-1) [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
MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT
60 70 80 90 100
ATHCGVPNYL PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL
110 120 130 140 150
SCTSPCSCYR PLCRLNFGLN VVENLALLVL TYVSSSEDFT IHENAFIVFI
160 170 180 190 200
ASSLGHMLLT CILWRLTKKH TVSQEDRKSY SWKQRLFIIN FISFFSALAV
210 220 230 240 250
YFRHNMYCEA GVYTIFAILE YTVVLTNMAF HMTAWWDFGN KELLITSQPE

EKRF
Length:254
Mass (Da):29,400
Last modified:September 18, 2013 - v2
Checksum:i2FB502D505DCCF64
GO
Isoform 1 (identifier: Q9UHJ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     55-55: G → GATPCRMFSAASQPLDPDGTLFRLRFTAMVWWAITFPVFGFFFCIIWSLVFHFEYTVATDCG

Note: This isoform is predicted to contain an additional transmembrane domain at position 85-105. If this domain exists, the topology of the protein would be modified, possibly challenging the GPI-anchor remodeling function of the protein.
Show »
Length:315
Mass (Da):36,417
Checksum:i64F89733A1F6270E
GO
Isoform 3 (identifier: Q9UHJ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     172-175: Missing.

Show »
Length:250
Mass (Da):28,957
Checksum:i6B8A396B2A362942
GO
Isoform 4 (identifier: Q9UHJ9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-232: DRKSYSWKQR...VVLTNMAFHM → VRSIPSGGSK...GCLLSAQHVL
     233-254: Missing.

Note: No experimental confirmation available.
Show »
Length:232
Mass (Da):25,834
Checksum:i4D03E66290A066A2
GO
Isoform 5 (identifier: Q9UHJ9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MARLGSTGGVSGRVVTQHRDSAPFLGAPRLGLRELGPIRGTAPEWHGRWNAAERSDKM
     172-175: Missing.

Note: No experimental confirmation available.
Show »
Length:307
Mass (Da):35,076
Checksum:i93344EC2DB02D17A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73Q → H in AAF19156 (PubMed:10585768).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06966416R → W in HPMRS3. 1 PublicationCorresponds to variant rs773359554dbSNPEnsembl.1
Natural variantiVAR_06966599Y → C in HPMRS3. 1 Publication1
Natural variantiVAR_069666127L → S in HPMRS3. 1 Publication1
Natural variantiVAR_069667160T → I in HPMRS3. 1 PublicationCorresponds to variant rs780188037dbSNPEnsembl.1
Natural variantiVAR_069668177R → P in HPMRS3. 1 PublicationCorresponds to variant rs774843232dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0538001M → MARLGSTGGVSGRVVTQHRD SAPFLGAPRLGLRELGPIRG TAPEWHGRWNAAERSDKM in isoform 5. Curated1
Alternative sequenceiVSP_03255055G → GATPCRMFSAASQPLDPDGT LFRLRFTAMVWWAITFPVFG FFFCIIWSLVFHFEYTVATD CG in isoform 1. 2 Publications1
Alternative sequenceiVSP_032551172 – 175Missing in isoform 3 and isoform 5. 1 Publication4
Alternative sequenceiVSP_045984176 – 232DRKSY…MAFHM → VRSIPSGGSKAAQKKIKDIC PQDSGSQVLQLETAALHHQL HLLLLGAGCLLSAQHVL in isoform 4. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_045985233 – 254Missing in isoform 4. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF159615 mRNA. Translation: AAF12755.1.
BX379511 mRNA. No translation available.
AY373030 mRNA. Translation: AAQ75733.1.
AF159621
, AF159616, AF159617, AF159618, AF159619, AF159620 Genomic DNA. Translation: AAF19156.1.
AK292181 mRNA. Translation: BAF84870.1.
AC090587 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02569.1.
CH471158 Genomic DNA. Translation: EAX02568.1.
CH471158 Genomic DNA. Translation: EAX02571.1.
BC009930 mRNA. Translation: AAH09930.1.
AL096753 mRNA. Translation: CAB46428.3.
CCDSiCCDS44523.1. [Q9UHJ9-5]
CCDS58112.1. [Q9UHJ9-1]
CCDS58113.1. [Q9UHJ9-4]
CCDS7747.1. [Q9UHJ9-2]
PIRiT12505.
RefSeqiNP_001138910.1. NM_001145438.2. [Q9UHJ9-5]
NP_001243164.1. NM_001256235.1.
NP_001243165.1. NM_001256236.1.
NP_001243166.1. NM_001256237.1.
NP_001243167.1. NM_001256238.1. [Q9UHJ9-4]
NP_001243168.1. NM_001256239.1. [Q9UHJ9-3]
NP_001243169.1. NM_001256240.1. [Q9UHJ9-1]
NP_001269967.1. NM_001283038.1.
NP_001269968.1. NM_001283039.1.
NP_001269969.1. NM_001283040.1.
NP_055304.1. NM_014489.3. [Q9UHJ9-2]
XP_006718253.1. XM_006718190.3. [Q9UHJ9-1]
XP_006718254.1. XM_006718191.3. [Q9UHJ9-3]
XP_011518303.1. XM_011520001.1. [Q9UHJ9-1]
XP_011518304.1. XM_011520002.1. [Q9UHJ9-3]
XP_011518305.1. XM_011520003.2. [Q9UHJ9-2]
XP_011518306.1. XM_011520004.2. [Q9UHJ9-2]
UniGeneiHs.133968.

Genome annotation databases

EnsembliENST00000278243; ENSP00000278243; ENSG00000148985. [Q9UHJ9-2]
ENST00000300730; ENSP00000300730; ENSG00000148985. [Q9UHJ9-5]
ENST00000463452; ENSP00000435223; ENSG00000148985. [Q9UHJ9-1]
ENST00000464906; ENSP00000434631; ENSG00000148985. [Q9UHJ9-2]
ENST00000493547; ENSP00000431851; ENSG00000148985. [Q9UHJ9-4]
GeneIDi27315.
KEGGihsa:27315.
UCSCiuc001lys.5. human. [Q9UHJ9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF159615 mRNA. Translation: AAF12755.1.
BX379511 mRNA. No translation available.
AY373030 mRNA. Translation: AAQ75733.1.
AF159621
, AF159616, AF159617, AF159618, AF159619, AF159620 Genomic DNA. Translation: AAF19156.1.
AK292181 mRNA. Translation: BAF84870.1.
AC090587 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02569.1.
CH471158 Genomic DNA. Translation: EAX02568.1.
CH471158 Genomic DNA. Translation: EAX02571.1.
BC009930 mRNA. Translation: AAH09930.1.
AL096753 mRNA. Translation: CAB46428.3.
CCDSiCCDS44523.1. [Q9UHJ9-5]
CCDS58112.1. [Q9UHJ9-1]
CCDS58113.1. [Q9UHJ9-4]
CCDS7747.1. [Q9UHJ9-2]
PIRiT12505.
RefSeqiNP_001138910.1. NM_001145438.2. [Q9UHJ9-5]
NP_001243164.1. NM_001256235.1.
NP_001243165.1. NM_001256236.1.
NP_001243166.1. NM_001256237.1.
NP_001243167.1. NM_001256238.1. [Q9UHJ9-4]
NP_001243168.1. NM_001256239.1. [Q9UHJ9-3]
NP_001243169.1. NM_001256240.1. [Q9UHJ9-1]
NP_001269967.1. NM_001283038.1.
NP_001269968.1. NM_001283039.1.
NP_001269969.1. NM_001283040.1.
NP_055304.1. NM_014489.3. [Q9UHJ9-2]
XP_006718253.1. XM_006718190.3. [Q9UHJ9-1]
XP_006718254.1. XM_006718191.3. [Q9UHJ9-3]
XP_011518303.1. XM_011520001.1. [Q9UHJ9-1]
XP_011518304.1. XM_011520002.1. [Q9UHJ9-3]
XP_011518305.1. XM_011520003.2. [Q9UHJ9-2]
XP_011518306.1. XM_011520004.2. [Q9UHJ9-2]
UniGeneiHs.133968.

3D structure databases

ProteinModelPortaliQ9UHJ9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118133. 8 interactors.
IntActiQ9UHJ9. 10 interactors.
STRINGi9606.ENSP00000278243.

Protein family/group databases

TCDBi9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

Polymorphism and mutation databases

BioMutaiPGAP2.
DMDMi544584767.

Proteomic databases

PaxDbiQ9UHJ9.
PeptideAtlasiQ9UHJ9.
PRIDEiQ9UHJ9.

Protocols and materials databases

DNASUi27315.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278243; ENSP00000278243; ENSG00000148985. [Q9UHJ9-2]
ENST00000300730; ENSP00000300730; ENSG00000148985. [Q9UHJ9-5]
ENST00000463452; ENSP00000435223; ENSG00000148985. [Q9UHJ9-1]
ENST00000464906; ENSP00000434631; ENSG00000148985. [Q9UHJ9-2]
ENST00000493547; ENSP00000431851; ENSG00000148985. [Q9UHJ9-4]
GeneIDi27315.
KEGGihsa:27315.
UCSCiuc001lys.5. human. [Q9UHJ9-1]

Organism-specific databases

CTDi27315.
DisGeNETi27315.
GeneCardsiPGAP2.
H-InvDBHIX0009378.
HGNCiHGNC:17893. PGAP2.
HPAiHPA063099.
MalaCardsiPGAP2.
MIMi614207. phenotype.
615187. gene.
neXtProtiNX_Q9UHJ9.
OpenTargetsiENSG00000148985.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA165543520.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3979. Eukaryota.
ENOG410XT2T. LUCA.
GeneTreeiENSGT00510000047299.
HOGENOMiHOG000006821.
HOVERGENiHBG053417.
InParanoidiQ9UHJ9.
TreeFamiTF314112.

Miscellaneous databases

ChiTaRSiPGAP2. human.
GenomeRNAii27315.
PROiQ9UHJ9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148985.
ExpressionAtlasiQ9UHJ9. baseline and differential.
GenevisibleiQ9UHJ9. HS.

Family and domain databases

InterProiIPR019402. Frag1/DRAM/Sfk1.
[Graphical view]
PfamiPF10277. Frag1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPGAP2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHJ9
Secondary accession number(s): E9PJG5
, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9Y4N1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 18, 2013
Last modified: November 30, 2016
This is version 105 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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.