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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-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 complex assembly Source: UniProtKB
  • protein retention in ER lumen Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

BioCyciZFISH:G66-33109-MONOMER.
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

HGNCiHGNC:4446. GPAA1.

Subcellular locationi

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

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi8733.
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...)Sequence analysis1
Glycosylationi517N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO43292.
MaxQBiO43292.
PaxDbiO43292.
PeptideAtlasiO43292.
PRIDEiO43292.

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.

Organism-specific databases

HPAiCAB002300.

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. 29 interactors.
IntActiO43292. 13 interactors.
MINTiMINT-1385413.
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.
OMAiLHQSYFF.
OrthoDBiEOG091G0703.
PhylomeDBiO43292.
TreeFamiTF313030.

Family and domain databases

InterProiIPR007246. 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. 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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114271. 29 interactors.
IntActiO43292. 13 interactors.
MINTiMINT-1385413.
STRINGi9606.ENSP00000347206.

PTM databases

iPTMnetiO43292.
PhosphoSitePlusiO43292.
SwissPalmiO43292.

Polymorphism and mutation databases

BioMutaiGPAA1.

Proteomic databases

EPDiO43292.
MaxQBiO43292.
PaxDbiO43292.
PeptideAtlasiO43292.
PRIDEiO43292.

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.
GeneCardsiGPAA1.
HGNCiHGNC:4446. GPAA1.
HPAiCAB002300.
MIMi603048. gene.
neXtProtiNX_O43292.
OpenTargetsiENSG00000197858.
PharmGKBiPA28827.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00196.
BioCyciZFISH:G66-33109-MONOMER.
ReactomeiR-HSA-162791. Attachment of GPI anchor to uPAR.

Miscellaneous databases

GeneWikiiGPAA1.
GenomeRNAii8733.
PROiO43292.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197858.
CleanExiHS_GPAA1.
ExpressionAtlasiO43292. baseline and differential.
GenevisibleiO43292. HS.

Family and domain databases

InterProiIPR007246. Gaa1.
[Graphical view]
PANTHERiPTHR13304. PTHR13304. 1 hit.
PfamiPF04114. Gaa1. 1 hit.
[Graphical view]
PIRSFiPIRSF036762. GAA1. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 136 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.