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Entry version 165 (12 Aug 2020)
Sequence version 3 (23 Jan 2007)
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Protein

Glycosylphosphatidylinositol anchor attachment 1 protein

Gene

GPAA1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O43292

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-162791, Attachment of GPI anchor to uPAR

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00196

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GPAA1
Synonyms:GAA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000197858.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4446, GPAA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603048, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43292

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 24CytoplasmicSequence analysisAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1554763777EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1554764058EnsemblClinVar.1
Natural variantiVAR_080547291L → P in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 PublicationCorresponds to variant dbSNP:rs1010907740EnsemblClinVar.1
Natural variantiVAR_080548389A → P in GPIBD15. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8733

MalaCards human disease database

More...
MalaCardsi
GPAA1
MIMi617810, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197858

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
529665, Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28827

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O43292, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GPAA1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000875542 – 621Glycosylphosphatidylinositol anchor attachment 1 proteinAdd BLAST620

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi517N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O43292

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O43292

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O43292

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43292

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O43292

PeptideAtlas

More...
PeptideAtlasi
O43292

PRoteomics IDEntifications database

More...
PRIDEi
O43292

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
48861 [O43292-1]
48862 [O43292-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
O43292, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43292

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43292

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O43292

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197858, Expressed in heart left ventricle and 240 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O43292, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O43292, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000197858, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
114271, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O43292

Protein interaction database and analysis system

More...
IntActi
O43292, 33 interactors

Molecular INTeraction database

More...
MINTi
O43292

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000347206

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O43292, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3566, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013685

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007442_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43292

KEGG Orthology (KO)

More...
KOi
K05289

Identification of Orthologs from Complete Genome Data

More...
OMAi
RESEWNI

Database of Orthologous Groups

More...
OrthoDBi
1486030at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43292

TreeFam database of animal gene trees

More...
TreeFami
TF313030

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007246, Gaa1

The PANTHER Classification System

More...
PANTHERi
PTHR13304, PTHR13304, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04114, Gaa1, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF036762, GAA1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPZ9E9PPZ9_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
260Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLV6E9PLV6_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
234Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQ31E9PQ31_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
273Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM11E9PM11_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLG8E9PLG8_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM94E9PM94_HUMAN
Glycosylphosphatidylinositol anchor...
GPAA1
98Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1554763777EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1554764058EnsemblClinVar.1
Natural variantiVAR_080547291L → P in GPIBD15; results in low amounts of GPI-anchored proteins on cell surface. 1 PublicationCorresponds to variant dbSNP:rs1010907740EnsemblClinVar.1
Natural variantiVAR_080548389A → P in GPIBD15. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00954225 – 85CVLSY…RKKSG → W in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS43776.1 [O43292-1]

Protein sequence database of the Protein Information Resource

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PIRi
T46923

NCBI Reference Sequences

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RefSeqi
NP_003792.1, NM_003801.3 [O43292-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355091; ENSP00000347206; ENSG00000197858 [O43292-1]
ENST00000361036; ENSP00000354316; ENSG00000197858 [O43292-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8733

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8733

UCSC genome browser

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UCSCi
uc003zax.4, human [O43292-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi114271, 42 interactors
CORUMiO43292
IntActiO43292, 33 interactors
MINTiO43292
STRINGi9606.ENSP00000347206

PTM databases

GlyGeniO43292, 2 sites
iPTMnetiO43292
PhosphoSitePlusiO43292
SwissPalmiO43292

Polymorphism and mutation databases

BioMutaiGPAA1

Proteomic databases

EPDiO43292
jPOSTiO43292
MassIVEiO43292
MaxQBiO43292
PaxDbiO43292
PeptideAtlasiO43292
PRIDEiO43292
ProteomicsDBi48861 [O43292-1]
48862 [O43292-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
28266, 149 antibodies

The DNASU plasmid repository

More...
DNASUi
8733

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8733
DisGeNETi8733
EuPathDBiHostDB:ENSG00000197858.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GPAA1
HGNCiHGNC:4446, GPAA1
HPAiENSG00000197858, Low tissue specificity
MalaCardsiGPAA1
MIMi603048, gene
617810, phenotype
neXtProtiNX_O43292
OpenTargetsiENSG00000197858
Orphaneti529665, Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
PharmGKBiPA28827

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3566, Eukaryota
GeneTreeiENSGT00390000013685
HOGENOMiCLU_007442_2_1_1
InParanoidiO43292
KOiK05289
OMAiRESEWNI
OrthoDBi1486030at2759
PhylomeDBiO43292
TreeFamiTF313030

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiO43292
ReactomeiR-HSA-162791, Attachment of GPI anchor to uPAR

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
8733, 18 hits in 868 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GPAA1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GPAA1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8733
PharosiO43292, Tbio

Protein Ontology

More...
PROi
PR:O43292
RNActiO43292, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197858, Expressed in heart left ventricle and 240 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGPAA1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43292
Secondary accession number(s): Q9NSS0, Q9UQ31
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: January 23, 2007
Last modified: August 12, 2020
This is version 165 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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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