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O43292

- GPAA1_HUMAN

UniProt

O43292 - GPAA1_HUMAN

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Protein
Glycosylphosphatidylinositol anchor attachment 1 protein
Gene
GPAA1, GAA1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.1 Publication

Pathwayi

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. tubulin binding Source: UniProtKB

GO - Biological processi

  1. C-terminal protein lipidation Source: Reactome
  2. attachment of GPI anchor to protein Source: UniProtKB
  3. cellular protein metabolic process Source: Reactome
  4. post-translational protein modification Source: Reactome
  5. protein complex assembly Source: UniProtKB
  6. protein retention in ER lumen Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiREACT_1830. Attachment of GPI anchor to uPAR.
UniPathwayiUPA00196.

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:4446. GPAA1.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 2423Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei25 – 4521Helical; Reviewed prediction
Add
BLAST
Topological domaini46 – 368323Lumenal Reviewed prediction
Add
BLAST
Transmembranei369 – 38921Helical; Reviewed prediction
Add
BLAST
Topological domaini390 – 42738Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei428 – 44821Helical; Reviewed prediction
Add
BLAST
Topological domaini449 – 45810Lumenal Reviewed prediction
Transmembranei459 – 47921Helical; Reviewed prediction
Add
BLAST
Topological domaini480 – 49516Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei496 – 51621Helical; Reviewed prediction
Add
BLAST
Topological domaini517 – 54327Lumenal Reviewed prediction
Add
BLAST
Transmembranei544 – 56421Helical; Reviewed prediction
Add
BLAST
Topological domaini565 – 59935Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei600 – 62021Helical; Reviewed prediction
Add
BLAST
Topological domaini621 – 6211Lumenal Reviewed prediction

GO - Cellular componenti

  1. GPI-anchor transamidase complex Source: UniProtKB
  2. endoplasmic reticulum membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28827.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 621620Glycosylphosphatidylinositol anchor attachment 1 protein
PRO_0000087554Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi203 – 2031N-linked (GlcNAc...) Reviewed prediction
Glycosylationi517 – 5171N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO43292.
PaxDbiO43292.
PRIDEiO43292.

PTM databases

PhosphoSiteiO43292.

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

ArrayExpressiO43292.
BgeeiO43292.
CleanExiHS_GPAA1.
GenevestigatoriO43292.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi114271. 8 interactions.
IntActiO43292. 5 interactions.
MINTiMINT-1385413.
STRINGi9606.ENSP00000347206.

Structurei

3D structure databases

ProteinModelPortaliO43292.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG273269.
HOGENOMiHOG000045628.
HOVERGENiHBG051793.
InParanoidiO43292.
KOiK05289.
OMAiLHQSYFF.
PhylomeDBiO43292.
TreeFamiTF313030.

Family and domain databases

InterProiIPR007246. Gaa1.
IPR017063. GPI_prot_transamidse_cplx_GAA1.
[Graphical view]
PANTHERiPTHR13304. PTHR13304. 1 hit.
PfamiPF04114. Gaa1. 1 hit.
[Graphical view]
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. Align

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

MGLLSDPVRR RALARLVLRL NAPLCVLSYV AGIAWFLALV FPPLTQRTYM    50
SENAMGSTMV EEQFAGGDRA RAFARDFAAH RKKSGALPVA WLERTMRSVG 100
LEVYTQSFSR KLPFPDETHE RYMVSGTNVY GILRAPRAAS TESLVLTVPC 150
GSDSTNSQAV GLLLALAAHF RGQIYWAKDI VFLVTEHDLL GTEAWLEAYH 200
DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE GLNGQLPNLD 250
LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG 300
RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL 350
ERLHQSFFLY LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG 400
MGLEEPGGAP GPSVPLPPSQ GVGLASLVAP LLISQAMGLA LYVLPVLGQH 450
VATQHFPVAE AEAVVLTLLA IYAAGLALPH NTHRVVSTQA PDRGWMALKL 500
VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP RTLYAALLVL 550
TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF 600
PLLSLGLYPC WLLFWNVLFW K 621
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

Sequence cautioni

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 8561CVLSY…RKKSG → W in isoform 2.
VSP_009542Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000562454; ENSP00000457816; ENSG00000260226. [O43292-2]
ENST00000564504; ENSP00000456208; ENSG00000260226. [O43292-1]
GeneIDi8733.
KEGGihsa:8733.
UCSCiuc003zaw.1. human. [O43292-2]
uc003zax.3. human. [O43292-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS43776.1. [O43292-1 ]
PIRi T46923.
RefSeqi NP_003792.1. NM_003801.3. [O43292-1 ]
UniGenei Hs.627962.

3D structure databases

ProteinModelPortali O43292.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114271. 8 interactions.
IntActi O43292. 5 interactions.
MINTi MINT-1385413.
STRINGi 9606.ENSP00000347206.

PTM databases

PhosphoSitei O43292.

Proteomic databases

MaxQBi O43292.
PaxDbi O43292.
PRIDEi O43292.

Protocols and materials databases

DNASUi 8733.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355091 ; ENSP00000347206 ; ENSG00000197858 . [O43292-1 ]
ENST00000361036 ; ENSP00000354316 ; ENSG00000197858 . [O43292-2 ]
ENST00000562454 ; ENSP00000457816 ; ENSG00000260226 . [O43292-2 ]
ENST00000564504 ; ENSP00000456208 ; ENSG00000260226 . [O43292-1 ]
GeneIDi 8733.
KEGGi hsa:8733.
UCSCi uc003zaw.1. human. [O43292-2 ]
uc003zax.3. human. [O43292-1 ]

Organism-specific databases

CTDi 8733.
GeneCardsi GC08P145137.
HGNCi HGNC:4446. GPAA1.
MIMi 603048. gene.
neXtProti NX_O43292.
PharmGKBi PA28827.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG273269.
HOGENOMi HOG000045628.
HOVERGENi HBG051793.
InParanoidi O43292.
KOi K05289.
OMAi LHQSYFF.
PhylomeDBi O43292.
TreeFami TF313030.

Enzyme and pathway databases

UniPathwayi UPA00196 .
Reactomei REACT_1830. Attachment of GPI anchor to uPAR.

Miscellaneous databases

GeneWikii GPAA1.
GenomeRNAii 8733.
NextBioi 32761.
PROi O43292.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43292.
Bgeei O43292.
CleanExi HS_GPAA1.
Genevestigatori O43292.

Family and domain databases

InterProi IPR007246. Gaa1.
IPR017063. GPI_prot_transamidse_cplx_GAA1.
[Graphical view ]
PANTHERi PTHR13304. PTHR13304. 1 hit.
Pfami PF04114. Gaa1. 1 hit.
[Graphical view ]
PIRSFi PIRSF036762. GAA1. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGPAA1_HUMAN
AccessioniPrimary (citable) accession number: O43292
Secondary accession number(s): Q9NSS0, Q9UQ31
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 115 of the entry and version 3 of the sequence. [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 chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways

External Data

Dasty 3

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