O43292 (GPAA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	621 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	GPI-anchor biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	C-terminal protein lipidation Traceable author statement. Source: Reactome attachment of GPI anchor to protein Non-traceable author statement Ref.1. Source: UniProtKB protein complex assembly Non-traceable author statement PubMed 14660601. Source: UniProtKB protein retention in ER lumen Non-traceable author statement PubMed 12052837. Source: UniProtKB
Cellular_component	GPI-anchor transamidase complex Traceable author statement PubMed 15713669. Source: UniProtKB
Molecular_function	tubulin binding Non-traceable author statement PubMed 12052837. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.5
	Chain	2 – 621	620	Glycosylphosphatidylinositol anchor attachment 1 protein		PRO_0000087554
Regions
	Topological domain	2 – 24	23	Cytoplasmic Potential
	Transmembrane	25 – 45	21	Helical; Potential
	Topological domain	46 – 368	323	Lumenal Potential
	Transmembrane	369 – 389	21	Helical; Potential
	Topological domain	390 – 427	38	Cytoplasmic Potential
	Transmembrane	428 – 448	21	Helical; Potential
	Topological domain	449 – 458	10	Lumenal Potential
	Transmembrane	459 – 479	21	Helical; Potential
	Topological domain	480 – 495	16	Cytoplasmic Potential
	Transmembrane	496 – 516	21	Helical; Potential
	Topological domain	517 – 543	27	Lumenal Potential
	Transmembrane	544 – 564	21	Helical; Potential
	Topological domain	565 – 599	35	Cytoplasmic Potential
	Transmembrane	600 – 620	21	Helical; Potential
	Topological domain	621	1	Lumenal Potential
Amino acid modifications
	Glycosylation	203	1	N-linked (GlcNAc...) Potential
	Glycosylation	517	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	25 – 85	61	CVLSY…RKKSG → W in isoform 2.		VSP_009542

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: A70AC8758A919A98	FASTA	621	67,623
	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
	Isoform 2 [UniParc]. Checksum: 8D17F7CCE04FFA67	FASTA	561	61,098
	10 20 30 40 50 60 MGLLSDPVRR RALARLVLRL NAPLWALPVA WLERTMRSVG LEVYTQSFSR KLPFPDETHE 70 80 90 100 110 120 RYMVSGTNVY GILRAPRAAS TESLVLTVPC GSDSTNSQAV GLLLALAAHF RGQIYWAKDI 130 140 150 160 170 180 VFLVTEHDLL GTEAWLEAYH DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE 190 200 210 220 230 240 GLNGQLPNLD LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG 250 260 270 280 290 300 RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL ERLHQSFFLY 310 320 330 340 350 360 LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG MGLEEPGGAP GPSVPLPPSQ 370 380 390 400 410 420 GVGLASLVAP LLISQAMGLA LYVLPVLGQH VATQHFPVAE AEAVVLTLLA IYAAGLALPH 430 440 450 460 470 480 NTHRVVSTQA PDRGWMALKL VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP 490 500 510 520 530 540 RTLYAALLVL TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF 550 560 PLLSLGLYPC WLLFWNVLFW K

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00021594. IPI00400944.
PIR	T46923.
RefSeq	NP_003792.1. NM_003801.3.
UniGene	Hs.627962.
3D structure databases
ProteinModelPortal	O43292.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43292. 4 interactions.
MINT	MINT-1385413.
STRING	9606.ENSP00000347206.
PTM databases
PhosphoSite	O43292.
Proteomic databases
PaxDb	O43292.
PRIDE	O43292.
Protocols and materials databases
DNASU	8733.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355091; ENSP00000347206; ENSG00000197858. ENST00000361036; ENSP00000354316; ENSG00000197858. ENST00000562454; ENSP00000457816; ENSG00000260226. ENST00000564504; ENSP00000456208; ENSG00000260226.
GeneID	8733.
KEGG	hsa:8733.
UCSC	uc003zaw.1. human. uc003zax.3. human.
Organism-specific databases
CTD	8733.
GeneCards	GC08P145137.
HGNC	HGNC:4446. GPAA1.
MIM	603048. gene.
neXtProt	NX_O43292.
PharmGKB	PA28827.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG273269.
HOGENOM	HOG000045628.
HOVERGEN	HBG051793.
InParanoid	O43292.
KO	K05289.
OMA	FWNILFW.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00196.
Gene expression databases
ArrayExpress	O43292.
Bgee	O43292.
CleanEx	HS_GPAA1.
Genevestigator	O43292.
GermOnline	ENSG00000197858. Homo sapiens.
Family and domain databases
InterPro	IPR007246. Gaa1. IPR017063. GPI_prot_transamidse_cplx_GAA1. [Graphical view]
PANTHER	PTHR13304. PTHR13304. 1 hit.
Pfam	PF04114. Gaa1. 1 hit. [Graphical view]
PIRSF	PIRSF036762. GAA1. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	8733.
NextBio	32761.
SOURCE	Search...

Entry information

Entry name

GPAA1_HUMAN

Accession

Primary (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 3, 2013
This is version 104 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.