GPAA1 - glycosylphosphatidylinositol anchor attachment 1 Gene

Homo sapiens

Also known as GAA1; hGAA1; GPIBD15

Gene ID: 8733 | Gene type: protein coding

About GPAA1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,082,634-144,086,216 (from NCBI)

This gene has 72 transcripts (splice variants), 195 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.6) and 25 other tissues.

Summary

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 mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]

GPAA1 Products(1)

mRNA	Protein	Name
NM_003801.4	NP_003792.1	glycosylphosphatidylinositol anchor attachment 1 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to GPI anchor binding	IMP IMP: Inferred from mutant phenotype	14660601	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10793132	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	14660601	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of GPI-anchor transamidase complex	IDA IDA: Inferred from direct assay	11483512	GOA
part of GPI-anchor transamidase complex	IPI IPI: Inferred from physical interaction	12802054	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPAA1 Protein Structure

Gaa1

0
100
200
300
400
500
621 a.a.

Protein Preferred Names

Protein Names

glycosylphosphatidylinositol anchor attachment 1 protein

GAA1 protein homolog

GPAA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GPAA1	O43292	PIGT	Homo sapiens	Q969N2	TAP	11483512
Intra	GPAA1	O43292	PIGT	Homo sapiens	Q969N2	Anti Tag CoIP	11483512
Intra	GPAA1	O43292	PIGT	Homo sapiens	Q969N2	Anti Tag CoIP	33961781
Intra	GPAA1	O43292	PIGT	Homo sapiens	Q969N2	Anti Tag CoIP	28514442
Intra	GPAA1	O43292	PIGK	Homo sapiens	Q92643	TAP	11483512
Intra	GPAA1	O43292	PIGK	Homo sapiens	Q92643	Anti Tag CoIP	11483512

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Glycosylphosphatidylinositol Biosynthesis Defect 15

GPIBD15	Developmental Delay, Epilepsy, Cerebellar Atrophy, And Osteopenia
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Gpaa1-Related Biosynthesis Defect
Glycosylphosphatidylinositol Biosynthesis Defect, Type 15

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

MCAHS3	Glycosylphosphatidylinositol Biosynthesis Defect 7
Gpibd7	Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital Disorder Of Glycosylation Due To Pigt Deficiency	Mcahs Type 3
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3	Pigt-Cdg
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3

Autosomal Recessive Cerebellar Ataxia

Arca

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05614	GPAA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GPAA1	RGD	RGD:1303197
Bos taurus	GPAA1	VGNC	VGNC:29508
Felis catus	GPAA1	VGNC	VGNC:67401
Macaca mulatta	GPAA1	VGNC	VGNC:73116
Canis familiaris	GPAA1	VGNC	VGNC:41358
Mus musculus	GPAA1	MGD	MGI:1202392

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