Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8733
Gene name Gene Name - the full gene name approved by the HGNC.	Glycosylphosphatidylinositol anchor attachment 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GPAA1
Synonyms (NCBI Gene) Gene synonyms aliases	GAA1, GPIBD15, hGAA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GPIBD15
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mR

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs782220208	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs782339984	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs782615259	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs782768127	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs922800309	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1010907740	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554763770	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554764058	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554764067	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554764080	GTACAAGTATGAC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023933	hsa-miR-1-3p	Proteomics	18668040
MIRT025943	hsa-miR-7-5p	Microarray	19073608
MIRT051180	hsa-miR-16-5p	CLASH	23622248
MIRT1028068	hsa-miR-1827	CLIP-seq
MIRT1028069	hsa-miR-2355-5p	CLIP-seq
MIRT1028070	hsa-miR-3173-3p	CLIP-seq
MIRT1028071	hsa-miR-3612	CLIP-seq
MIRT1028072	hsa-miR-3679-3p	CLIP-seq
MIRT1028073	hsa-miR-4695-5p	CLIP-seq
MIRT1028074	hsa-miR-650	CLIP-seq
MIRT1028068	hsa-miR-1827	CLIP-seq
MIRT2004965	hsa-miR-2110	CLIP-seq
MIRT1028069	hsa-miR-2355-5p	CLIP-seq
MIRT2004966	hsa-miR-3150a-3p	CLIP-seq
MIRT1028070	hsa-miR-3173-3p	CLIP-seq
MIRT2004967	hsa-miR-3175	CLIP-seq
MIRT2004968	hsa-miR-3189-3p	CLIP-seq
MIRT1028071	hsa-miR-3612	CLIP-seq
MIRT1028072	hsa-miR-3679-3p	CLIP-seq
MIRT2004969	hsa-miR-4294	CLIP-seq
MIRT1028073	hsa-miR-4695-5p	CLIP-seq
MIRT2004970	hsa-miR-4729	CLIP-seq
MIRT2004971	hsa-miR-593	CLIP-seq
MIRT2004972	hsa-miR-615-5p	CLIP-seq
MIRT1028074	hsa-miR-650	CLIP-seq
MIRT2004973	hsa-miR-939	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003923	Function	GPI-anchor transamidase activity	NAS	9468317
GO:0005515	Function	Protein binding	IPI	10793132, 11483512, 15713669
GO:0005739	Component	Mitochondrion	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0006621	Process	Protein retention in ER lumen	NAS	12052837
GO:0015631	Function	Tubulin binding	NAS	12052837
GO:0016020	Component	Membrane	HDA	19946888
GO:0016255	Process	Attachment of GPI anchor to protein	IBA	21873635
GO:0016255	Process	Attachment of GPI anchor to protein	NAS	9468317
GO:0016255	Process	Attachment of GPI anchor to protein	TAS	11483512
GO:0034235	Function	GPI anchor binding	IMP	14660601
GO:0042765	Component	GPI-anchor transamidase complex	IBA	21873635
GO:0042765	Component	GPI-anchor transamidase complex	IDA	11483512, 12802054, 14660601
GO:0042765	Component	GPI-anchor transamidase complex	TAS	15713669
GO:0065003	Process	Protein-containing complex assembly	IMP	14660601

MIM	HGNC	e!Ensembl
603048	4446	ENSG00000197858

Protein

UniProt ID

O43292

Protein name

GPI-anchor transamidase component GPAA1 (GAA1 protein homolog) (hGAA1) (Glycosylphosphatidylinositol anchor attachment 1 protein) (GPI anchor attachment protein 1)

Protein function

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:114835

PDB

7W72 , 7WLD , 8IMX , 8IMY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04114	Gaa1	125 → 615	Gaa1-like, GPI transamidase component	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues. {ECO:0000269|PubMed:9468317}.

Sequence

MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMV
EEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHE
RYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDI
VFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVE
GLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASG
RPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLY
LLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQ
GVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPH
NTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGP
RTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLF
PLLSLGLYPCWLLFWNVLFWK

Sequence length

621

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Attachment of GPI anchor to uPAR

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	24896178
Glycosylphosphatidylinositol deficiency	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	rs1010907740, rs1554764080, rs1554764067, rs782768127, rs782220208, rs1553259614, rs1553259602, rs782615259, rs761543313, rs776038451, rs1263517814, rs1567618413, rs1567614073, rs1426262136, rs1567616570 View all (3 more)	29100095, 24896178
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining
Auditory Perceptual Disorders	Associate	33599954
Bone Diseases Metabolic	Associate	29100095
Brain Diseases	Associate	31353022
Breast Neoplasms	Associate	18487995, 22654114
Cerebellar Diseases	Associate	29100095, 37510348
Colorectal Neoplasms	Associate	24535878
Developmental Disabilities	Associate	29100095, 37510348
Epilepsy	Associate	29100095
Friedreich Ataxia	Associate	33599954, 9886462
Intellectual Disability	Associate	31353022, 37510348
Melanoma	Associate	32462000
Muscle Hypotonia	Associate	29100095
Neoplasm Metastasis	Associate	24535878, 32432756
Neoplasms	Associate	32432756, 32462000
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	32432756
Seizures	Associate	29100095, 31353022, 37510348
Squamous Cell Carcinoma of Head and Neck	Associate	18028549

GPAA1 (glycosylphosphatidylinositol anchor attachment 1)