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Protein

GPI inositol-deacylase

Gene

PGAP1

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

Functioni

Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei174By similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-162791. Attachment of GPI anchor to uPAR.

Protein family/group databases

ESTHERihuman-PGAP1. PGAP1.

Names & Taxonomyi

Protein namesi
Recommended name:
GPI inositol-deacylase (EC:3.1.-.-)
Alternative name(s):
Post-GPI attachment to proteins factor 1
Short name:
hPGAP1
Gene namesi
Name:PGAP1
ORF Names:UNQ3024/PRO9822
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:25712. PGAP1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 11CytoplasmicSequence analysisAdd BLAST11
Transmembranei12 – 32HelicalSequence analysisAdd BLAST21
Topological domaini33 – 641LumenalSequence analysisAdd BLAST609
Transmembranei642 – 662HelicalSequence analysisAdd BLAST21
Topological domaini663 – 668CytoplasmicSequence analysis6
Transmembranei669 – 689HelicalSequence analysisAdd BLAST21
Topological domaini690 – 733LumenalSequence analysisAdd BLAST44
Transmembranei734 – 754HelicalSequence analysisAdd BLAST21
Topological domaini755 – 817CytoplasmicSequence analysisAdd BLAST63
Transmembranei818 – 838HelicalSequence analysisAdd BLAST21
Topological domaini839 – 853LumenalSequence analysisAdd BLAST15
Transmembranei854 – 874HelicalSequence analysisAdd BLAST21
Topological domaini875 – 893CytoplasmicSequence analysisAdd BLAST19
Transmembranei894 – 914HelicalSequence analysisAdd BLAST21
Topological domaini915 – 922LumenalSequence analysis8

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 42 (MRT42)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:615802
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071772197Missing in MRT42; results in loss of PI-specific phospholipase C sensitivity which could be rescued by expression of the wild-type protein. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi80055.
MalaCardsiPGAP1.
MIMi615802. phenotype.
OpenTargetsiENSG00000197121.
Orphaneti401820. Autosomal recessive spastic paraplegia type 67.
PharmGKBiPA162399235.

Polymorphism and mutation databases

BioMutaiPGAP1.
DMDMi74758940.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002776231 – 922GPI inositol-deacylaseAdd BLAST922

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi402N-linked (GlcNAc...)Sequence analysis1
Glycosylationi558N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ75T13.
MaxQBiQ75T13.
PaxDbiQ75T13.
PeptideAtlasiQ75T13.
PRIDEiQ75T13.

PTM databases

iPTMnetiQ75T13.
PhosphoSitePlusiQ75T13.

Expressioni

Gene expression databases

BgeeiENSG00000197121.
CleanExiHS_PGAP1.
ExpressionAtlasiQ75T13. baseline and differential.
GenevisibleiQ75T13. HS.

Organism-specific databases

HPAiHPA069704.

Interactioni

Protein-protein interaction databases

BioGridi123093. 15 interactors.
IntActiQ75T13. 2 interactors.
MINTiMINT-4828389.
STRINGi9606.ENSP00000346809.

Structurei

3D structure databases

ProteinModelPortaliQ75T13.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GPI inositol-deacylase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3724. Eukaryota.
ENOG410YD9N. LUCA.
GeneTreeiENSGT00390000016484.
HOVERGENiHBG082122.
InParanoidiQ75T13.
KOiK05294.
OMAiVIHCAAI.
OrthoDBiEOG091G06G8.
PhylomeDBiQ75T13.
TreeFamiTF314565.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR012908. PGAP1-like.
[Graphical view]
PfamiPF07819. PGAP1. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q75T13-1) [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
MFLHSVNLWN LAFYVFMVFL ATLGLWDVFF GFEENKCSMS YMFEYPEYQK
60 70 80 90 100
IELPKKLAKR YPAYELYLYG EGSYAEEHKI LPLTGIPVLF LPGNAGSYKQ
110 120 130 140 150
VRSIGSIALR KAEDIDFKYH FDFFSVNFNE ELVALYGGSL QKQTKFVHEC
160 170 180 190 200
IKTILKLYKG QEFAPKSVAI IGHSMGGLVA RALLTLKNFK HDLINLLITQ
210 220 230 240 250
ATPHVAPVMP LDRFITDFYT TVNNYWILNA RHINLTTLSV AGGFRDYQVR
260 270 280 290 300
SGLTFLPKLS HHTSALSVVS SAVPKTWVST DHLSIVWCKQ LQLTTVRAFF
310 320 330 340 350
DLIDADTKQI TQNSKKKLSV LYHHFIRHPS KHFEENPAII SDLTGTSMWV
360 370 380 390 400
LVKVSKWTYV AYNESEKIYF TFPLENHRKI YTHVYCQSTM LDTNSWIFAC
410 420 430 440 450
INSTSMCLQG VDLSWKAELL PTIKYLTLRL QDYPSLSHLV VYVPSVRGSK
460 470 480 490 500
FVVDCEFFKK EKRYIQLPVT HLFSFGLSSR KVVLNTNGLY YNLELLNFGQ
510 520 530 540 550
IYQAFKINVV SKCSAVKEEI TSIYRLHIPW SYEDSLTIAQ APSSTEISLK
560 570 580 590 600
LHIAQPENNT HVALFKMYTS SDCRYEVTVK TSFSQILGQV VRFHGGALPA
610 620 630 640 650
YVVSNILLAY RGQLYSLFST GCCLEYATML DKEAKPYKVD PFVIIIKFLL
660 670 680 690 700
GYKWFKELWD VLLLPELDAV ILTCQSMCFP LISLILFLFG TCTAYWSGLL
710 720 730 740 750
SSASVRLLSS LWLALKRPSE LPKDIKMISP DLPFLTIVLI IVSWTTCGAL
760 770 780 790 800
AILLSYLYYV FKVVHLQASL TTFKNSQPVN PKHSRRSEKK SNHHKDSSIH
810 820 830 840 850
HLRLSANDAE DSLRMHSTVI NLLTWIVLLS MPSLIYWLKN LRYYFKLNPD
860 870 880 890 900
PCKPLAFILI PTMAILGNTY TVSIKSSKLL KTTSQFPLPL AVGVIAFGSA
910 920
HLYRLPCFVF IPLLLHALCN FM
Length:922
Mass (Da):105,383
Last modified:July 5, 2004 - v1
Checksum:i0305D18F5BF292D6
GO
Isoform 2 (identifier: Q75T13-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-174: Missing.

Note: No experimental confirmation available.
Show »
Length:748
Mass (Da):85,239
Checksum:i5C67D37891F3FAAC
GO
Isoform 3 (identifier: Q75T13-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     592-592: R → A
     593-922: Missing.

Note: No experimental confirmation available.
Show »
Length:592
Mass (Da):67,974
Checksum:iBD6B7BB40B8A0BC1
GO
Isoform 4 (identifier: Q75T13-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     50-269: Missing.
     652-922: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:431
Mass (Da):49,845
Checksum:i86F82D676245A7E3
GO

Sequence cautioni

The sequence AAQ88987 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BC040517 differs from that shown. Reason: Frameshift at position 333.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti304D → G in BAB14035 (PubMed:14702039).Curated1
Sequence conflicti389T → A in CAH10543 (PubMed:17974005).Curated1
Sequence conflicti701S → P in CAH10543 (PubMed:17974005).Curated1
Sequence conflicti809A → T in CAH10543 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071772197Missing in MRT42; results in loss of PI-specific phospholipase C sensitivity which could be rescued by expression of the wild-type protein. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0230401 – 174Missing in isoform 2. 1 PublicationAdd BLAST174
Alternative sequenceiVSP_02304150 – 269Missing in isoform 4. 1 PublicationAdd BLAST220
Alternative sequenceiVSP_023042592R → A in isoform 3. 1 Publication1
Alternative sequenceiVSP_023043593 – 922Missing in isoform 3. 1 PublicationAdd BLAST330
Alternative sequenceiVSP_023044652 – 922Missing in isoform 4. 1 PublicationAdd BLAST271

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB128038 mRNA. Translation: BAD13427.1.
AK022439 mRNA. Translation: BAB14035.1.
BX648642 mRNA. Translation: CAH10543.1.
AC017035 Genomic DNA. Translation: AAY15059.1.
AC012486 Genomic DNA. Translation: AAX88854.1.
BC040517 mRNA. No translation available.
AY358624 mRNA. Translation: AAQ88987.1. Different initiation.
CCDSiCCDS2318.1. [Q75T13-1]
RefSeqiNP_001308028.1. NM_001321099.1. [Q75T13-2]
NP_001308029.1. NM_001321100.1.
NP_079265.2. NM_024989.3. [Q75T13-1]
XP_016860481.1. XM_017004992.1. [Q75T13-2]
XP_016860482.1. XM_017004993.1. [Q75T13-2]
UniGeneiHs.229988.

Genome annotation databases

EnsembliENST00000354764; ENSP00000346809; ENSG00000197121. [Q75T13-1]
ENST00000409475; ENSP00000387028; ENSG00000197121. [Q75T13-3]
GeneIDi80055.
KEGGihsa:80055.
UCSCiuc002utw.4. human. [Q75T13-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB128038 mRNA. Translation: BAD13427.1.
AK022439 mRNA. Translation: BAB14035.1.
BX648642 mRNA. Translation: CAH10543.1.
AC017035 Genomic DNA. Translation: AAY15059.1.
AC012486 Genomic DNA. Translation: AAX88854.1.
BC040517 mRNA. No translation available.
AY358624 mRNA. Translation: AAQ88987.1. Different initiation.
CCDSiCCDS2318.1. [Q75T13-1]
RefSeqiNP_001308028.1. NM_001321099.1. [Q75T13-2]
NP_001308029.1. NM_001321100.1.
NP_079265.2. NM_024989.3. [Q75T13-1]
XP_016860481.1. XM_017004992.1. [Q75T13-2]
XP_016860482.1. XM_017004993.1. [Q75T13-2]
UniGeneiHs.229988.

3D structure databases

ProteinModelPortaliQ75T13.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123093. 15 interactors.
IntActiQ75T13. 2 interactors.
MINTiMINT-4828389.
STRINGi9606.ENSP00000346809.

Protein family/group databases

ESTHERihuman-PGAP1. PGAP1.

PTM databases

iPTMnetiQ75T13.
PhosphoSitePlusiQ75T13.

Polymorphism and mutation databases

BioMutaiPGAP1.
DMDMi74758940.

Proteomic databases

EPDiQ75T13.
MaxQBiQ75T13.
PaxDbiQ75T13.
PeptideAtlasiQ75T13.
PRIDEiQ75T13.

Protocols and materials databases

DNASUi80055.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354764; ENSP00000346809; ENSG00000197121. [Q75T13-1]
ENST00000409475; ENSP00000387028; ENSG00000197121. [Q75T13-3]
GeneIDi80055.
KEGGihsa:80055.
UCSCiuc002utw.4. human. [Q75T13-1]

Organism-specific databases

CTDi80055.
DisGeNETi80055.
GeneCardsiPGAP1.
HGNCiHGNC:25712. PGAP1.
HPAiHPA069704.
MalaCardsiPGAP1.
MIMi611655. gene.
615802. phenotype.
neXtProtiNX_Q75T13.
OpenTargetsiENSG00000197121.
Orphaneti401820. Autosomal recessive spastic paraplegia type 67.
PharmGKBiPA162399235.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3724. Eukaryota.
ENOG410YD9N. LUCA.
GeneTreeiENSGT00390000016484.
HOVERGENiHBG082122.
InParanoidiQ75T13.
KOiK05294.
OMAiVIHCAAI.
OrthoDBiEOG091G06G8.
PhylomeDBiQ75T13.
TreeFamiTF314565.

Enzyme and pathway databases

ReactomeiR-HSA-162791. Attachment of GPI anchor to uPAR.

Miscellaneous databases

GenomeRNAii80055.
PROiQ75T13.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197121.
CleanExiHS_PGAP1.
ExpressionAtlasiQ75T13. baseline and differential.
GenevisibleiQ75T13. HS.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR012908. PGAP1-like.
[Graphical view]
PfamiPF07819. PGAP1. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPGAP1_HUMAN
AccessioniPrimary (citable) accession number: Q75T13
Secondary accession number(s): Q4G0R8
, Q4ZG47, Q53SM0, Q6AW92, Q6UWV4, Q9HA24
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: July 5, 2004
Last modified: November 2, 2016
This is version 114 of the entry and version 1 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 2
    Human chromosome 2: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. 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.