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O43292 (GPAA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycosylphosphatidylinositol anchor attachment 1 protein

Short name=GPI anchor attachment protein 1
Alternative name(s):
GAA1 protein homolog
Short name=hGAA1
Gene names
Name:GPAA1
Synonyms:GAA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length621 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate. Ref.1

Pathway

Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Subunit structure

Forms a complex with PIGK/GPI8, PIGT, PIGU and PIGS. Ref.5

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.5.

Tissue specificity

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

Sequence caution

The sequence CAB75660.2 differs from that shown. Reason: Erroneous gene model prediction. Erroneous prediction from an unspliced cDNA.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43292-1)

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.
Isoform 2 (identifier: O43292-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.5
Chain2 – 621620Glycosylphosphatidylinositol anchor attachment 1 protein
PRO_0000087554

Regions

Topological domain2 – 2423Cytoplasmic Potential
Transmembrane25 – 4521Helical; Potential
Topological domain46 – 368323Lumenal Potential
Transmembrane369 – 38921Helical; Potential
Topological domain390 – 42738Cytoplasmic Potential
Transmembrane428 – 44821Helical; Potential
Topological domain449 – 45810Lumenal Potential
Transmembrane459 – 47921Helical; Potential
Topological domain480 – 49516Cytoplasmic Potential
Transmembrane496 – 51621Helical; Potential
Topological domain517 – 54327Lumenal Potential
Transmembrane544 – 56421Helical; Potential
Topological domain565 – 59935Cytoplasmic Potential
Transmembrane600 – 62021Helical; Potential
Topological domain6211Lumenal Potential

Amino acid modifications

Glycosylation2031N-linked (GlcNAc...) Potential
Glycosylation5171N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence25 – 8561CVLSY…RKKSG → W in isoform 2.
VSP_009542

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: A70AC8758A919A98

FASTA62167,623
        10         20         30         40         50         60 
MGLLSDPVRR RALARLVLRL NAPLCVLSYV AGIAWFLALV FPPLTQRTYM SENAMGSTMV 

        70         80         90        100        110        120 
EEQFAGGDRA RAFARDFAAH RKKSGALPVA WLERTMRSVG LEVYTQSFSR KLPFPDETHE 

       130        140        150        160        170        180 
RYMVSGTNVY GILRAPRAAS TESLVLTVPC GSDSTNSQAV GLLLALAAHF RGQIYWAKDI 

       190        200        210        220        230        240 
VFLVTEHDLL GTEAWLEAYH DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE 

       250        260        270        280        290        300 
GLNGQLPNLD LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG 

       310        320        330        340        350        360 
RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL ERLHQSFFLY 

       370        380        390        400        410        420 
LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG MGLEEPGGAP GPSVPLPPSQ 

       430        440        450        460        470        480 
GVGLASLVAP LLISQAMGLA LYVLPVLGQH VATQHFPVAE AEAVVLTLLA IYAAGLALPH 

       490        500        510        520        530        540 
NTHRVVSTQA PDRGWMALKL VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP 

       550        560        570        580        590        600 
RTLYAALLVL TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF 

       610        620 
PLLSLGLYPC WLLFWNVLFW K 

« Hide

Isoform 2 [UniParc].

Checksum: 8D17F7CCE04FFA67
Show »

FASTA56161,098

References

« Hide 'large scale' references
[1]"Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins."
Hiroi Y., Komuro I., Chen R., Hosoda T., Mizuno T., Kudoh S., Georgescu S.P., Medof M.E., Yazaki Y.
FEBS Lett. 421:252-258(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
Tissue: Heart.
[2]"Human and mouse GPAA1 (glycosylphosphatidylinositol anchor attachment 1) genes: genomic structures, chromosome loci and the presence of a minor class intron."
Inoue N., Ohishi K., Endo Y., Fujita T., Takeda J., Kinoshita T.
Cytogenet. Cell Genet. 84:199-205(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
Tissue: Lung.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Muscle, Placenta and Skin.
[5]"PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8."
Ohishi K., Inoue N., Kinoshita T.
EMBO J. 20:4088-4098(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 2-21, SUBUNIT, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
[6]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT46923.
RefSeqNP_003792.1. NM_003801.3.
UniGeneHs.627962.

3D structure databases

ProteinModelPortalO43292.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114271. 8 interactions.
IntActO43292. 5 interactions.
MINTMINT-1385413.
STRING9606.ENSP00000347206.

PTM databases

PhosphoSiteO43292.

Proteomic databases

PaxDbO43292.
PRIDEO43292.

Protocols and materials databases

DNASU8733.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355091; ENSP00000347206; ENSG00000197858. [O43292-1]
ENST00000361036; ENSP00000354316; ENSG00000197858. [O43292-2]
ENST00000562454; ENSP00000457816; ENSG00000260226. [O43292-2]
ENST00000564504; ENSP00000456208; ENSG00000260226. [O43292-1]
GeneID8733.
KEGGhsa:8733.
UCSCuc003zaw.1. human. [O43292-2]
uc003zax.3. human. [O43292-1]

Organism-specific databases

CTD8733.
GeneCardsGC08P145137.
HGNCHGNC:4446. GPAA1.
MIM603048. gene.
neXtProtNX_O43292.
PharmGKBPA28827.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG273269.
HOGENOMHOG000045628.
HOVERGENHBG051793.
InParanoidO43292.
KOK05289.
OMALHQSYFF.
PhylomeDBO43292.
TreeFamTF313030.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00196.

Gene expression databases

ArrayExpressO43292.
BgeeO43292.
CleanExHS_GPAA1.
GenevestigatorO43292.

Family and domain databases

InterProIPR007246. Gaa1.
IPR017063. GPI_prot_transamidse_cplx_GAA1.
[Graphical view]
PANTHERPTHR13304. PTHR13304. 1 hit.
PfamPF04114. Gaa1. 1 hit.
[Graphical view]
PIRSFPIRSF036762. GAA1. 1 hit.
ProtoNetSearch...

Other

GeneWikiGPAA1.
GenomeRNAi8733.
NextBio32761.
PROO43292.
SOURCESearch...

Entry information

Entry nameGPAA1_HUMAN
AccessionPrimary (citable) accession number: O43292
Secondary accession number(s): Q9NSS0, Q9UQ31
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 111 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM