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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.1 Publication

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

  • attachment of GPI anchor to protein Source: UniProtKB
  • protein-containing complex assembly Source: UniProtKB
  • protein retention in ER lumen Source: UniProtKB

Keywordsi

Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162791 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
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

Organism-specific databases

DisGeNETi8733
MalaCardsiGPAA1
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
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

  • tubulin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi114271, 38 interactors
CORUMiO43292
IntActiO43292, 13 interactors
MINTiO43292
STRINGi9606.ENSP00000347206

Structurei

3D structure databases

ProteinModelPortaliO43292
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3566 Eukaryota
ENOG410XT16 LUCA
GeneTreeiENSGT00390000013685
HOGENOMiHOG000045628
HOVERGENiHBG051793
InParanoidiO43292
KOiK05289
OMAiQVYWARD
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

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

Sequence cautioni

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

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

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: June 20, 2018
This is version 149 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 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

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