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Protein

Glycosylphosphatidylinositol anchor attachment 1 protein

Gene

GPAA1

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

Functioni

Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.2 Publications

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

  • tubulin binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162791 Attachment of GPI anchor to uPAR
UniPathwayi
UPA00196

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosylphosphatidylinositol anchor attachment 1 protein
Short name:
GPI anchor attachment protein 1
Alternative name(s):
GAA1 protein homolog
Short name:
hGAA1
Gene namesi
Name:GPAA1
Synonyms:GAA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000197858.10
HGNCiHGNC:4446 GPAA1
MIMi603048 gene
neXtProtiNX_O43292

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 domaini2 – 24CytoplasmicSequence analysisAdd BLAST23
Transmembranei25 – 45HelicalSequence analysisAdd BLAST21
Topological domaini46 – 368LumenalSequence analysisAdd BLAST323
Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
Topological domaini390 – 427CytoplasmicSequence analysisAdd BLAST38
Transmembranei428 – 448HelicalSequence analysisAdd BLAST21
Topological domaini449 – 458LumenalSequence analysis10
Transmembranei459 – 479HelicalSequence analysisAdd BLAST21
Topological domaini480 – 495CytoplasmicSequence analysisAdd BLAST16
Transmembranei496 – 516HelicalSequence analysisAdd BLAST21
Topological domaini517 – 543LumenalSequence analysisAdd BLAST27
Transmembranei544 – 564HelicalSequence analysisAdd BLAST21
Topological domaini565 – 599CytoplasmicSequence analysisAdd BLAST35
Transmembranei600 – 620HelicalSequence analysisAdd BLAST21
Topological domaini621LumenalSequence analysis1

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria.
See also OMIM:617810
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08054351S → L in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 Publication1
Natural variantiVAR_08054454A → N in GPIBD15; unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_080545176W → S in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 PublicationCorresponds to variant dbSNP:rs782220208EnsemblClinVar.1
Natural variantiVAR_080546290L → P in GPIBD15. 1 Publication1
Natural variantiVAR_080547291L → P in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 PublicationCorresponds to variant dbSNP:rs1010907740Ensembl.1
Natural variantiVAR_080548389A → P in GPIBD15. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8733
MalaCardsiGPAA1
MIMi617810 phenotype
OpenTargetsiENSG00000197858
PharmGKBiPA28827

Polymorphism and mutation databases

BioMutaiGPAA1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000875542 – 621Glycosylphosphatidylinositol anchor attachment 1 proteinAdd BLAST620

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi517N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO43292
MaxQBiO43292
PaxDbiO43292
PeptideAtlasiO43292
PRIDEiO43292
ProteomicsDBi48861
48862 [O43292-2]

PTM databases

iPTMnetiO43292
PhosphoSitePlusiO43292
SwissPalmiO43292

Expressioni

Tissue specificityi

Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues.1 Publication

Gene expression databases

BgeeiENSG00000197858 Expressed in 226 organ(s), highest expression level in heart left ventricle
CleanExiHS_GPAA1
ExpressionAtlasiO43292 baseline and differential
GenevisibleiO43292 HS

Interactioni

Subunit structurei

Forms a complex with PIGK/GPI8, PIGT, PIGU and PIGS.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114271, 39 interactors
CORUMiO43292
IntActiO43292, 13 interactors
MINTiO43292
STRINGi9606.ENSP00000347206

Structurei

3D structure databases

ProteinModelPortaliO43292
SMRiO43292
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3566 Eukaryota
ENOG410XT16 LUCA
GeneTreeiENSGT00390000013685
HOGENOMiHOG000045628
HOVERGENiHBG051793
InParanoidiO43292
KOiK05289
OMAiWTSIDGP
OrthoDBiEOG091G0703
PhylomeDBiO43292
TreeFamiTF313030

Family and domain databases

InterProiView protein in InterPro
IPR007246 Gaa1
PANTHERiPTHR13304 PTHR13304, 1 hit
PfamiView protein in Pfam
PF04114 Gaa1, 1 hit
PIRSFiPIRSF036762 GAA1, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43292-1) [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
MGLLSDPVRR RALARLVLRL NAPLCVLSYV AGIAWFLALV FPPLTQRTYM
60 70 80 90 100
SENAMGSTMV EEQFAGGDRA RAFARDFAAH RKKSGALPVA WLERTMRSVG
110 120 130 140 150
LEVYTQSFSR KLPFPDETHE RYMVSGTNVY GILRAPRAAS TESLVLTVPC
160 170 180 190 200
GSDSTNSQAV GLLLALAAHF RGQIYWAKDI VFLVTEHDLL GTEAWLEAYH
210 220 230 240 250
DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE GLNGQLPNLD
260 270 280 290 300
LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG
310 320 330 340 350
RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL
360 370 380 390 400
ERLHQSFFLY LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG
410 420 430 440 450
MGLEEPGGAP GPSVPLPPSQ GVGLASLVAP LLISQAMGLA LYVLPVLGQH
460 470 480 490 500
VATQHFPVAE AEAVVLTLLA IYAAGLALPH NTHRVVSTQA PDRGWMALKL
510 520 530 540 550
VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP RTLYAALLVL
560 570 580 590 600
TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF
610 620
PLLSLGLYPC WLLFWNVLFW K
Length:621
Mass (Da):67,623
Last modified:January 23, 2007 - v3
Checksum:iA70AC8758A919A98
GO
Isoform 2 (identifier: O43292-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-85: CVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSG → W

Show »
Length:561
Mass (Da):61,098
Checksum:i8D17F7CCE04FFA67
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PLV6E9PLV6_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
234Annotation score:
E9PPZ9E9PPZ9_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
260Annotation score:
E9PM11E9PM11_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
158Annotation score:
E9PQ31E9PQ31_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
273Annotation score:
E9PLG8E9PLG8_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
81Annotation score:
E9PM94E9PM94_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
98Annotation score:

Sequence cautioni

The sequence CAB75660 differs from that shown. Reason: Erroneous gene model prediction. Erroneous prediction from an unspliced cDNA.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08054351S → L in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 Publication1
Natural variantiVAR_08054454A → N in GPIBD15; unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_080545176W → S in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 PublicationCorresponds to variant dbSNP:rs782220208EnsemblClinVar.1
Natural variantiVAR_080546290L → P in GPIBD15. 1 Publication1
Natural variantiVAR_080547291L → P in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 PublicationCorresponds to variant dbSNP:rs1010907740Ensembl.1
Natural variantiVAR_080548389A → P in GPIBD15. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00954225 – 85CVLSY…RKKSG → W in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006969 mRNA Translation: BAA24035.1
AB002135 mRNA Translation: BAA82588.1
AB002137 Genomic DNA Translation: BAA82590.1
AB017267 Genomic DNA Translation: BAA82587.1
AL157437 mRNA Translation: CAB75660.2 Sequence problems.
BC003171 mRNA Translation: AAH03171.1
BC004129 mRNA Translation: AAH04129.1
BC006383 mRNA Translation: AAH06383.2
CCDSiCCDS43776.1 [O43292-1]
PIRiT46923
RefSeqiNP_003792.1, NM_003801.3 [O43292-1]
UniGeneiHs.627962

Genome annotation databases

EnsembliENST00000355091; ENSP00000347206; ENSG00000197858 [O43292-1]
ENST00000361036; ENSP00000354316; ENSG00000197858 [O43292-2]
GeneIDi8733
KEGGihsa:8733
UCSCiuc003zax.4 human [O43292-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006969 mRNA Translation: BAA24035.1
AB002135 mRNA Translation: BAA82588.1
AB002137 Genomic DNA Translation: BAA82590.1
AB017267 Genomic DNA Translation: BAA82587.1
AL157437 mRNA Translation: CAB75660.2 Sequence problems.
BC003171 mRNA Translation: AAH03171.1
BC004129 mRNA Translation: AAH04129.1
BC006383 mRNA Translation: AAH06383.2
CCDSiCCDS43776.1 [O43292-1]
PIRiT46923
RefSeqiNP_003792.1, NM_003801.3 [O43292-1]
UniGeneiHs.627962

3D structure databases

ProteinModelPortaliO43292
SMRiO43292
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114271, 39 interactors
CORUMiO43292
IntActiO43292, 13 interactors
MINTiO43292
STRINGi9606.ENSP00000347206

PTM databases

iPTMnetiO43292
PhosphoSitePlusiO43292
SwissPalmiO43292

Polymorphism and mutation databases

BioMutaiGPAA1

Proteomic databases

EPDiO43292
MaxQBiO43292
PaxDbiO43292
PeptideAtlasiO43292
PRIDEiO43292
ProteomicsDBi48861
48862 [O43292-2]

Protocols and materials databases

DNASUi8733
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355091; ENSP00000347206; ENSG00000197858 [O43292-1]
ENST00000361036; ENSP00000354316; ENSG00000197858 [O43292-2]
GeneIDi8733
KEGGihsa:8733
UCSCiuc003zax.4 human [O43292-1]

Organism-specific databases

CTDi8733
DisGeNETi8733
EuPathDBiHostDB:ENSG00000197858.10
GeneCardsiGPAA1
HGNCiHGNC:4446 GPAA1
MalaCardsiGPAA1
MIMi603048 gene
617810 phenotype
neXtProtiNX_O43292
OpenTargetsiENSG00000197858
PharmGKBiPA28827
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3566 Eukaryota
ENOG410XT16 LUCA
GeneTreeiENSGT00390000013685
HOGENOMiHOG000045628
HOVERGENiHBG051793
InParanoidiO43292
KOiK05289
OMAiWTSIDGP
OrthoDBiEOG091G0703
PhylomeDBiO43292
TreeFamiTF313030

Enzyme and pathway databases

UniPathwayi
UPA00196

ReactomeiR-HSA-162791 Attachment of GPI anchor to uPAR

Miscellaneous databases

GeneWikiiGPAA1
GenomeRNAii8733
PROiPR:O43292
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197858 Expressed in 226 organ(s), highest expression level in heart left ventricle
CleanExiHS_GPAA1
ExpressionAtlasiO43292 baseline and differential
GenevisibleiO43292 HS

Family and domain databases

InterProiView protein in InterPro
IPR007246 Gaa1
PANTHERiPTHR13304 PTHR13304, 1 hit
PfamiView protein in Pfam
PF04114 Gaa1, 1 hit
PIRSFiPIRSF036762 GAA1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGPAA1_HUMAN
AccessioniPrimary (citable) accession number: O43292
Secondary accession number(s): Q9NSS0, Q9UQ31
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 153 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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