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glycosylphosphatidylinositol anchor attachment 1

Summary

Gene Symbol

GPAA1

Aliases

GAA1
GPI transamidase subunit
hGAA1

Organism

Homo sapiens (human)

External Links

NCBI Gene

8733

GGDB ID

gg231

HGNC

4446

mRNA

NM_003801

map

8q24.3

Protein

NP_003792

OMIM

603048

KEGG Gene ID

hsa:8733

PubChem

8733

Alliance of Genome Resources

HGNC:4446

Annotation

Keyword

3D-structure
Alternative splicing
Direct protein sequencing
Disease variant
Endoplasmic reticulum
GPI-anchor biosynthesis
Glycoprotein
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O43292	GAA1 protein homolog

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein-containing complex assembly	IMP	14660601
attachment of GPI anchor to protein	IBA NAS TAS	11483512 12802054 9468317
protein retention in ER lumen		12052837

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

attachment of GPI anchor to protein

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

attachment of GPI anchor to protein

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

attachment of GPI anchor to protein

macromolecule modification [inference]

protein modification process [inference]

attachment of GPI anchor to protein

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

attachment of GPI anchor to protein

cellular process [inference]

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization in organelle [inference]

maintenance of protein localization in endoplasmic reticulum [inference]

protein retention in ER lumen

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly

protein-containing complex organization [inference]

protein-containing complex assembly

localization [inference]

maintenance of location [inference]

maintenance of protein location [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization in organelle [inference]

maintenance of protein localization in endoplasmic reticulum [inference]

protein retention in ER lumen

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization in organelle [inference]

maintenance of protein localization in endoplasmic reticulum [inference]

protein retention in ER lumen

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GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA
cytosol	IDA
endoplasmic reticulum membrane	NAS	12802054
centrosome	IDA
membrane	HDA	19946888

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

GPI-anchor transamidase complex

endoplasmic reticulum protein-containing complex [inference]

GPI-anchor transamidase complex

catalytic complex [inference]

peptidase complex [inference]

endopeptidase complex [inference]

caspase complex [inference]

GPI-anchor transamidase complex

cellular anatomical entity [inference]

microtubule organizing center [inference]

centrosome

cytosol

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying **all 4** entries
GO Term	Evidence Code	PMID
GPI anchor binding	IMP	14660601
tubulin binding		12052837
protein binding	IPI	10793132 11483512 12802054 15713669 28514442
GPI-anchor transamidase activity		9468317

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

peptidase activity [inference]

endopeptidase activity [inference]

cysteine-type endopeptidase activity [inference]

GPI-anchor transamidase activity

cysteine-type peptidase activity [inference]

cysteine-type endopeptidase activity [inference]

GPI-anchor transamidase activity

catalytic activity, acting on a protein [inference]

peptidase activity [inference]

endopeptidase activity [inference]

cysteine-type endopeptidase activity [inference]

GPI-anchor transamidase activity

cysteine-type peptidase activity [inference]

cysteine-type endopeptidase activity [inference]

GPI-anchor transamidase activity

binding [inference]

protein binding

cytoskeletal protein binding [inference]

tubulin binding

lipid binding [inference]

phospholipid binding [inference]

phosphatidylinositol binding [inference]

GPI anchor binding

glycolipid binding [inference]

GPI anchor binding

carbohydrate derivative binding [inference]

glycolipid binding [inference]

GPI anchor binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000197858

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg231

Gene Symbol

GPAA1

KEGG BRITE Database

Orthology

K05289

Name

GPI-anchor transamidase subunit GAA1

References

9468317

Disease

Disease Ontology

Displaying entries **1 - 10** of 52 in total

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DO ID	Disease Name	Source
DOID:13353	diffuse interstitial keratitis	DisGeNET
DOID:1432	blindness	DisGeNET
DOID:1443	cerebral degeneration	DisGeNET
DOID:0050865	tongue squamous cell carcinoma	DisGeNET
DOID:0060135	apraxia	DisGeNET
DOID:0060216	Cogan syndrome	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0110035	Alzheimer's disease 2	DisGeNET
DOID:0110037	Alzheimer's disease 5	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000316	Hypertelorism
HP:0000341	Narrow forehead
HP:0000455	Broad nasal tip
HP:0000463	Anteverted nares
HP:0000505	Visual impairment
HP:0000545	Myopia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000657	Oculomotor apraxia

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:529665	glycosylphosphatidylinositol biosynthesis defect 15
OMIM:617810	glycosylphosphatidylinositol biosynthesis defect 15

PubChem Disease

MedGen Diseases

Glycosylphosphatidylinositol biosynthesis defect 15

OMIM Phenotypes

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

KEGG Diseases

Inherited glycosylphosphatidylinositol deficiencies

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001389
Gene Name: glycosylphosphatidylinositol anchor attachment 1

Ortholog

Displaying entries **1 - 10** of 74 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	172256	WB:WBGene00018006
Drosophila melanogaster	31517	FB:FBgn0029818
Callorhinchus milii	103179689		CALMI18392
Latimeria chalumnae	102355478		LATCH13061
Danio rerio	555496	ZFIN:ZDB-GENE-131121-587
Ictalurus punctatus	108268193		ICTPU33204
Electrophorus electricus	113591281		ELEEL46450
Salmo trutta	115157150		SALTR63770
Gadus morhua	115548270		GADMO57431
Oryzias latipes	101170374		ORYLA07011

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UniCarb-DR

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Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements