UniProtKB - Q9UHJ9 (PGAP2_HUMAN)
Post-GPI attachment to proteins factor 2
PGAP2
Functioni
Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface.
1 PublicationGO - Biological processi
- GPI anchor biosynthetic process Source: UniProtKB
Keywordsi
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
PathwayCommonsi | Q9UHJ9 |
SignaLinki | Q9UHJ9 |
Protein family/group databases
TCDBi | 9.B.131.1.2, the post-gpi attachment protein (p-gap2) family |
Names & Taxonomyi
Protein namesi | Recommended name: Post-GPI attachment to proteins factor 2CuratedAlternative name(s): FGF receptor-activating protein 1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17893, PGAP2 |
MIMi | 615187, gene |
neXtProti | NX_Q9UHJ9 |
VEuPathDBi | HostDB:ENSG00000148985 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity
Golgi apparatus
- Golgi apparatus membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Golgi apparatus
- Golgi membrane Source: UniProtKB
Other locations
- integral component of membrane Source: ProtInc
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 23 | CytoplasmicSequence analysisAdd BLAST | 23 | |
Transmembranei | 24 – 44 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 45 – 114 | LumenalSequence analysisAdd BLAST | 70 | |
Transmembranei | 115 – 135 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 136 – 143 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 144 – 164 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 165 – 185 | LumenalSequence analysisAdd BLAST | 21 | |
Transmembranei | 186 – 206 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 207 – 209 | CytoplasmicSequence analysis | 3 | |
Transmembranei | 210 – 230 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 231 – 254 | LumenalSequence analysisAdd BLAST | 24 |
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069664 | 16 | R → W in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs773359554EnsemblClinVar. | 1 | |
Natural variantiVAR_069665 | 99 | Y → C in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs879255232Ensembl. | 1 | |
Natural variantiVAR_069666 | 127 | L → S in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs879255233Ensembl. | 1 | |
Natural variantiVAR_069667 | 160 | T → I in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs780188037Ensembl. | 1 | |
Natural variantiVAR_069668 | 177 | R → P in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs774843232Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 27315 |
MalaCardsi | PGAP2 |
MIMi | 614207, phenotype |
OpenTargetsi | ENSG00000148985 |
Orphaneti | 247262, Hyperphosphatasia-intellectual disability syndrome |
PharmGKBi | PA165543520 |
Miscellaneous databases
Pharosi | Q9UHJ9, Tbio |
Genetic variation databases
BioMutai | PGAP2 |
DMDMi | 544584767 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000326094 | 1 – 254 | Post-GPI attachment to proteins factor 2Add BLAST | 254 |
Proteomic databases
MassIVEi | Q9UHJ9 |
MaxQBi | Q9UHJ9 |
PaxDbi | Q9UHJ9 |
PeptideAtlasi | Q9UHJ9 |
PRIDEi | Q9UHJ9 |
ProteomicsDBi | 21134 43326 84365 [Q9UHJ9-1] 84366 [Q9UHJ9-2] 84367 [Q9UHJ9-3] |
PTM databases
iPTMneti | Q9UHJ9 |
PhosphoSitePlusi | Q9UHJ9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000148985, Expressed in corpus epididymis and 228 other tissues |
ExpressionAtlasi | Q9UHJ9, baseline and differential |
Genevisiblei | Q9UHJ9, HS |
Organism-specific databases
HPAi | ENSG00000148985, Tissue enriched (epididymis) |
Interactioni
Subunit structurei
Interacts with PGAP2IP.
By similarityBinary interactionsi
Q9UHJ9
With | #Exp. | IntAct |
---|---|---|
CREB3L1 [Q96BA8] | 3 | EBI-10321427,EBI-6942903 |
KRTAP10-9 [P60411] | 3 | EBI-10321427,EBI-10172052 |
Isoform 5 [Q9UHJ9-5]
Protein-protein interaction databases
BioGRIDi | 118133, 48 interactors |
IntActi | Q9UHJ9, 38 interactors |
Miscellaneous databases
RNActi | Q9UHJ9, protein |
Structurei
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3979, Eukaryota |
GeneTreei | ENSGT00510000047299 |
InParanoidi | Q9UHJ9 |
OMAi | HYREHIR |
OrthoDBi | 1166083at2759 |
TreeFami | TF314112 |
Family and domain databases
InterProi | View protein in InterPro IPR019402, Frag1/DRAM/Sfk1 IPR039545, PGAP2 |
PANTHERi | PTHR12892, PTHR12892, 1 hit |
Pfami | View protein in Pfam PF10277, Frag1, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
55-55: G → GATPCRMFSAASQPLDPDGTLFRLRFTAMVWWAITFPVFGFFFCIIWSLVFHFEYTVATDCG
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MS75 | A0A0A0MS75_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 FRAG1, hCG_16163 | 272 | Annotation score: | ||
H0YDQ4 | H0YDQ4_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 FRAG1, hCG_16163 | 234 | Annotation score: | ||
H0YDJ5 | H0YDJ5_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 208 | Annotation score: | ||
A8MYS5 | A8MYS5_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 311 | Annotation score: | ||
E9PQ19 | E9PQ19_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 245 | Annotation score: | ||
E9PKT0 | E9PKT0_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 94 | Annotation score: | ||
A8MZF5 | A8MZF5_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 98 | Annotation score: | ||
E9PRZ2 | E9PRZ2_HUMAN | Post-GPI attachment to proteins 2 i... | PGAP2 | 56 | Annotation score: | ||
H0YCQ4 | H0YCQ4_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 81 | Annotation score: | ||
B7Z2X5 | B7Z2X5_HUMAN | Post-GPI attachment to proteins fac... | PGAP2 | 211 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 73 | Q → H in AAF19156 (PubMed:10585768).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069664 | 16 | R → W in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs773359554EnsemblClinVar. | 1 | |
Natural variantiVAR_069665 | 99 | Y → C in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs879255232Ensembl. | 1 | |
Natural variantiVAR_069666 | 127 | L → S in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs879255233Ensembl. | 1 | |
Natural variantiVAR_069667 | 160 | T → I in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs780188037Ensembl. | 1 | |
Natural variantiVAR_069668 | 177 | R → P in HPMRS3. 1 PublicationCorresponds to variant dbSNP:rs774843232Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053800 | 1 | M → MARLGSTGGVSGRVVTQHRD SAPFLGAPRLGLRELGPIRG TAPEWHGRWNAAERSDKM in isoform 5. Curated | 1 | |
Alternative sequenceiVSP_032550 | 55 | G → GATPCRMFSAASQPLDPDGT LFRLRFTAMVWWAITFPVFG FFFCIIWSLVFHFEYTVATD CG in isoform 1. 2 Publications | 1 | |
Alternative sequenceiVSP_032551 | 172 – 175 | Missing in isoform 3 and isoform 5. 1 Publication | 4 | |
Alternative sequenceiVSP_045984 | 176 – 232 | DRKSY…MAFHM → VRSIPSGGSKAAQKKIKDIC PQDSGSQVLQLETAALHHQL HLLLLGAGCLLSAQHVL in isoform 4. 1 PublicationAdd BLAST | 57 | |
Alternative sequenceiVSP_045985 | 233 – 254 | Missing in isoform 4. 1 PublicationAdd BLAST | 22 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000278243; ENSP00000278243; ENSG00000148985 [Q9UHJ9-2] ENST00000300730; ENSP00000300730; ENSG00000148985 [Q9UHJ9-5] ENST00000463452; ENSP00000435223; ENSG00000148985 ENST00000464906; ENSP00000434631; ENSG00000148985 [Q9UHJ9-2] ENST00000493547; ENSP00000431851; ENSG00000148985 [Q9UHJ9-4] |
GeneIDi | 27315 |
KEGGi | hsa:27315 |
MANE-Selecti | ENST00000278243.9; ENSP00000278243.4; NM_014489.4; NP_055304.1 [Q9UHJ9-2] |
UCSCi | uc001lys.5, human [Q9UHJ9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 118133, 48 interactors |
IntActi | Q9UHJ9, 38 interactors |
Protein family/group databases
TCDBi | 9.B.131.1.2, the post-gpi attachment protein (p-gap2) family |
PTM databases
iPTMneti | Q9UHJ9 |
PhosphoSitePlusi | Q9UHJ9 |
Genetic variation databases
BioMutai | PGAP2 |
DMDMi | 544584767 |
Proteomic databases
MassIVEi | Q9UHJ9 |
MaxQBi | Q9UHJ9 |
PaxDbi | Q9UHJ9 |
PeptideAtlasi | Q9UHJ9 |
PRIDEi | Q9UHJ9 |
ProteomicsDBi | 21134 43326 84365 [Q9UHJ9-1] 84366 [Q9UHJ9-2] 84367 [Q9UHJ9-3] |
Protocols and materials databases
Antibodypediai | 42139, 87 antibodies from 16 providers |
DNASUi | 27315 |
Genome annotation databases
Ensembli | ENST00000278243; ENSP00000278243; ENSG00000148985 [Q9UHJ9-2] ENST00000300730; ENSP00000300730; ENSG00000148985 [Q9UHJ9-5] ENST00000463452; ENSP00000435223; ENSG00000148985 ENST00000464906; ENSP00000434631; ENSG00000148985 [Q9UHJ9-2] ENST00000493547; ENSP00000431851; ENSG00000148985 [Q9UHJ9-4] |
GeneIDi | 27315 |
KEGGi | hsa:27315 |
MANE-Selecti | ENST00000278243.9; ENSP00000278243.4; NM_014489.4; NP_055304.1 [Q9UHJ9-2] |
UCSCi | uc001lys.5, human [Q9UHJ9-1] |
Organism-specific databases
CTDi | 27315 |
DisGeNETi | 27315 |
GeneCardsi | PGAP2 |
HGNCi | HGNC:17893, PGAP2 |
HPAi | ENSG00000148985, Tissue enriched (epididymis) |
MalaCardsi | PGAP2 |
MIMi | 614207, phenotype 615187, gene |
neXtProti | NX_Q9UHJ9 |
OpenTargetsi | ENSG00000148985 |
Orphaneti | 247262, Hyperphosphatasia-intellectual disability syndrome |
PharmGKBi | PA165543520 |
VEuPathDBi | HostDB:ENSG00000148985 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3979, Eukaryota |
GeneTreei | ENSGT00510000047299 |
InParanoidi | Q9UHJ9 |
OMAi | HYREHIR |
OrthoDBi | 1166083at2759 |
TreeFami | TF314112 |
Enzyme and pathway databases
PathwayCommonsi | Q9UHJ9 |
SignaLinki | Q9UHJ9 |
Miscellaneous databases
BioGRID-ORCSi | 27315, 12 hits in 1049 CRISPR screens |
ChiTaRSi | PGAP2, human |
GenomeRNAii | 27315 |
Pharosi | Q9UHJ9, Tbio |
PROi | PR:Q9UHJ9 |
RNActi | Q9UHJ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148985, Expressed in corpus epididymis and 228 other tissues |
ExpressionAtlasi | Q9UHJ9, baseline and differential |
Genevisiblei | Q9UHJ9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019402, Frag1/DRAM/Sfk1 IPR039545, PGAP2 |
PANTHERi | PTHR12892, PTHR12892, 1 hit |
Pfami | View protein in Pfam PF10277, Frag1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PGAP2_HUMAN | |
Accessioni | Q9UHJ9Primary (citable) accession number: Q9UHJ9 Secondary accession number(s): E9PJG5 Q9Y4N1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | September 18, 2013 | |
Last modified: | February 23, 2022 | |
This is version 135 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families