Seroatlas · Human Serome Atlas

GPAA1

GPI-anchor transamidase component GPAA1

Also known as: GAA1, GPAA1_HUMAN, hGAA1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O43292
Gene: GPAA1
Ensembl: ENSG00000197858
Chromosome: 8
Canonical length: 621 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins
Subcellular location: Endoplasmic reticulum,Centrosome,Mitochondria,Cytosol

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

621 residues, UniProt reviewed canonical sequence.

>O43292|GPAA1
     1  MGLLSDPVRR RALARLVLRL NAPLCVLSYV AGIAWFLALV FPPLTQRTYM SENAMGSTMV
    61  EEQFAGGDRA RAFARDFAAH RKKSGALPVA WLERTMRSVG LEVYTQSFSR KLPFPDETHE
   121  RYMVSGTNVY GILRAPRAAS TESLVLTVPC GSDSTNSQAV GLLLALAAHF RGQIYWAKDI
   181  VFLVTEHDLL GTEAWLEAYH DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE
   241  GLNGQLPNLD LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG
   301  RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL ERLHQSFFLY
   361  LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG MGLEEPGGAP GPSVPLPPSQ
   421  GVGLASLVAP LLISQAMGLA LYVLPVLGQH VATQHFPVAE AEAVVLTLLA IYAAGLALPH
   481  NTHRVVSTQA PDRGWMALKL VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP
   541  RTLYAALLVL TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF
   601  PLLSLGLYPC WLLFWNVLFW K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GPAA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 71 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 71 nTPM
skeletal muscle: 69 nTPM
heart muscle: 68 nTPM
liver: 66 nTPM
pancreas: 63 nTPM
blood vessel: 59 nTPM

Single-cell type

early primary spermatocytes: 257 nCPM
extravillous trophoblasts: 196 nCPM
cytotrophoblasts: 143 nCPM
decidual stromal cells: 137 nCPM
enterocytes: 136 nCPM
migrating cytotrophoblasts: 128 nCPM

Immune cell

plasmacytoid DC: 95 nTPM
non-classical monocyte: 82 nTPM
gdT-cell: 73 nTPM
total PBMC: 70 nTPM
intermediate monocyte: 70 nTPM
classical monocyte: 58 nTPM

Brain region

choroid plexus: 106 nTPM
white matter: 70 nTPM
spinal cord: 58 nTPM
medulla oblongata: 58 nTPM
cerebellum: 57 nTPM
pons: 57 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GPAA1.

Disease | AllUniProt

Conditions GPAA1 is implicated in, by any mechanism.

Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) MIM:617810

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 649 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Glycosylphosphatidylinositol biosynthesis defect 15
GPAA1-related disorder
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.98
gnomAD pLI: 0
gnomAD missense Z: 0.87
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

GPI anchor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

GPI transamidase component Gaa1
Gaa1-like, GPI transamidase component

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GPAA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GPAA1 as an antibody target. Whether an autoantibody or antibody against GPAA1 could matter depends on whether native GPAA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GPAA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GPAA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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