GPAA1 glycosylphosphatidylinositol anchor attachment 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPAA1provided by HGNC
Official Full Name: glycosylphosphatidylinositol anchor attachment 1provided by HGNC
Primary source: HGNC:HGNC:4446
See related: Ensembl:ENSG00000197858 MIM:603048; AllianceGenome:HGNC:4446
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAA1; hGAA1; GPIBD15
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]
Expression: Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144082634..144086216)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145243485..145247067)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145137537..145141119)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural modelling of the lumenal domain of human GPAA1, the metallo-peptide synthetase subunit of the transamidase complex, reveals zinc-binding mode and two flaps surrounding the active site.
Title: Structural modelling of the lumenal domain of human GPAA1, the metallo-peptide synthetase subunit of the transamidase complex, reveals zinc-binding mode and two flaps surrounding the active site.
Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.
Title: Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.
GPAA1 promotes progression of childhood acute lymphoblastic leukemia through regulating c-myc.
Title: GPAA1 promotes progression of childhood acute lymphoblastic leukemia through regulating c-myc.
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
Title: A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
Mechanistically, GPAA1 enhanced the levels of metastasis-associated GPI-anchored proteins to increase tumour metastasis and intensified lipid raft formation, which consequently promoted the interaction between EGFR and ERBB2 as well as downstream pro-proliferative signalling.
Title: GPAA1 promotes gastric cancer progression via upregulation of GPI-anchored protein and enhancement of ERBB signalling pathway.
The splicing mutation was found to decrease GPAA1 mRNA.
Title: Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
the lumenal domain of GAA1/GPAA1 has a 3D structure similar to that of an M28-type aminopeptidase. GAA1/GPAA1 is a candidate for the enzyme that catalyzes the peptide bond formation between the omega-site and a phosphoethanolamine group of GPI lipid anchor.
Title: Transamidase subunit GAA1/GPAA1 is a M28 family metallo-peptide-synthetase that catalyzes the peptide bond formation between the substrate protein's omega-site and the GPI lipid anchor's phosphoethanolamine.
Results show an increased expression level and elevated copy number for GAA1 in head and neck squamous carcinoma, suggesting a role for this GPI anchor subunit in HNSCC.
Title: Alterations of GPI transamidase subunits in head and neck squamous carcinoma.
Increased expression of glycosyl-phosphatidylinositol anchor attachment protein 1 is associated with gene amplification in hepatocellular carcinoma
Title: Increased expression of glycosyl-phosphatidylinositol anchor attachment protein 1 (GPAA1) is associated with gene amplification in hepatocellular carcinoma.
passively retained in the ER by a signalless mechanism
Title: Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycosylphosphatidylinositol biosynthesis defect 15 MedGen: C4540520 OMIM: 617810 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1358E (e-PCR)
- UniSTS:151172

RH47058 (e-PCR)
- UniSTS:43958

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GPI anchor binding	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to GPI-anchor transamidase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in attachment of GPI anchor to protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in attachment of GPI anchor to protein	NAS Non-traceable Author Statement more info	PubMed
involved_in attachment of GPI anchor to protein	TAS Traceable Author Statement more info	PubMed
involved_in protein retention in ER lumen	NAS Non-traceable Author Statement more info	PubMed
involved_in protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of GPI-anchor transamidase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GPI-anchor transamidase complex	IDA Inferred from Direct Assay more info	PubMed
part_of GPI-anchor transamidase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of GPI-anchor transamidase complex	TAS Traceable Author Statement more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: glycosylphosphatidylinositol anchor attachment 1 protein

Names: GAA1 protein homolog; GPAA1P anchor attachment protein 1 homolog; GPI anchor attachment protein 1; GPI transamidase subunit; anchor attachment protein 1 (Gaa1p, yeast) homolog; glycophosphatidylinositol anchor attachment 1; glycosylphosphatidylinositol anchor attachment protein 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003801.4 → NP_003792.1 glycosylphosphatidylinositol anchor attachment 1 protein

Status: REVIEWED

Source sequence(s)

BC003171, BC004129

Consensus CDS

CCDS43776.1

UniProtKB/Swiss-Prot

O43292, Q9NSS0, Q9UQ31

UniProtKB/TrEMBL

B2R6X8

Related

ENSP00000347206.4, ENST00000355091.9

Conserved Domains (1) summary

pfam04114
Location:126 → 613

Gaa1; Gaa1-like, GPI transamidase component