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Protein

GPI inositol-deacylase

Gene

PGAP1

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

Keywordsi

Molecular functionHydrolase
Biological processProtein 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

EuPathDBiHostDB:ENSG00000197121.14
HGNCiHGNC:25712 PGAP1
MIMi611655 gene
neXtProtiNX_Q75T13

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 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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 42 (MRT42)2 Publications
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
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
401820 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...) asparagineSequence analysis1
Glycosylationi558N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ75T13
MaxQBiQ75T13
PaxDbiQ75T13
PeptideAtlasiQ75T13
PRIDEiQ75T13
ProteomicsDBi68649
68650 [Q75T13-2]
68651 [Q75T13-3]
68652 [Q75T13-4]

PTM databases

iPTMnetiQ75T13
PhosphoSitePlusiQ75T13

Expressioni

Gene expression databases

BgeeiENSG00000197121 Expressed in 212 organ(s), highest expression level in forebrain
CleanExiHS_PGAP1
ExpressionAtlasiQ75T13 baseline and differential
GenevisibleiQ75T13 HS

Organism-specific databases

HPAiHPA069704

Interactioni

Protein-protein interaction databases

BioGridi123093, 17 interactors
IntActiQ75T13, 2 interactors
MINTiQ75T13
STRINGi9606.ENSP00000346809

Structurei

3D structure databases

ProteinModelPortaliQ75T13
SMRiQ75T13
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
OMAiCRYRISY
OrthoDBiEOG091G06G8
PhylomeDBiQ75T13
TreeFamiTF314565

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR012908 PGAP1-like
IPR039529 PGAP1/BST1
PANTHERiPTHR15495 PTHR15495, 1 hit
PfamiView protein in Pfam
PF07819 PGAP1, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00120 LIPASE_SER, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DYY6B4DYY6_HUMAN
GPI inositol-deacylase
PGAP1
304Annotation score:
A6NI33A6NI33_HUMAN
GPI inositol-deacylase
PGAP1
182Annotation score:
F8WD75F8WD75_HUMAN
GPI inositol-deacylase
PGAP1
50Annotation score:
H7BZN8H7BZN8_HUMAN
GPI inositol-deacylase
PGAP1
159Annotation score:

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

Similar proteinsi

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
SMRiQ75T13
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123093, 17 interactors
IntActiQ75T13, 2 interactors
MINTiQ75T13
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
ProteomicsDBi68649
68650 [Q75T13-2]
68651 [Q75T13-3]
68652 [Q75T13-4]

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
EuPathDBiHostDB:ENSG00000197121.14
GeneCardsiPGAP1
HGNCiHGNC:25712 PGAP1
HPAiHPA069704
MalaCardsiPGAP1
MIMi611655 gene
615802 phenotype
neXtProtiNX_Q75T13
OpenTargetsiENSG00000197121
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
401820 Autosomal recessive spastic paraplegia type 67
PharmGKBiPA162399235
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3724 Eukaryota
ENOG410YD9N LUCA
GeneTreeiENSGT00390000016484
HOVERGENiHBG082122
InParanoidiQ75T13
KOiK05294
OMAiCRYRISY
OrthoDBiEOG091G06G8
PhylomeDBiQ75T13
TreeFamiTF314565

Enzyme and pathway databases

ReactomeiR-HSA-162791 Attachment of GPI anchor to uPAR

Miscellaneous databases

ChiTaRSiPGAP1 human
GenomeRNAii80055
PROiPR:Q75T13
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197121 Expressed in 212 organ(s), highest expression level in forebrain
CleanExiHS_PGAP1
ExpressionAtlasiQ75T13 baseline and differential
GenevisibleiQ75T13 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR012908 PGAP1-like
IPR039529 PGAP1/BST1
PANTHERiPTHR15495 PTHR15495, 1 hit
PfamiView protein in Pfam
PF07819 PGAP1, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00120 LIPASE_SER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPGAP1_HUMAN
AccessioniPrimary (citable) accession number: Q75T13
Secondary accession number(s): Q4G0R8
, Q4ZG47, Q53SM0, Q6AW92, Q6UWV4, Q9HA24
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 128 of the entry and version 1 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

Documents

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