PIGA (P37287) review notes

Human PIGA / PIG-A / Phosphatidylinositol N-acetylglucosaminyltransferase subunit A.
HGNC:8957, X-linked (Xp22.2), 484 aa, EC 2.4.1.198. CAZy GT4 (glycosyltransferase group 1 family, GT4 subfamily).

Deep research: falcon provider was OUT OF CREDITS (HTTP 402) at the time of review, so no
-deep-research-falcon.md was generated. This review is grounded in the UniProt record,
the seeded GOA, cached primary publications, and the two cached Reactome entries.

Core biology

PIGA is the catalytic subunit of the GPI-GlcNAc transferase (GPI-GnT) complex that
catalyses the first, committed step of GPI (glycosylphosphatidylinositol) anchor biosynthesis:
transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc onto phosphatidylinositol (PI) to give
GlcNAc-PI, on the cytoplasmic face of the ER membrane [PMID:8900170; PMID:9463366; PMID:16162815].

GPI-GnT complex composition

At least PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PIGA is the catalytic component)
[UniProt SUBUNIT; PMID:16162815]. Historical assembly picture:
- PMID:8900170 (1996): PIG-A + PIG-H form an ER complex; PIG-A is a transmembrane protein with a large
cytoplasmic (catalytic) domain homologous to a bacterial GlcNAc transferase and a small lumenal domain;
small lumenal domain targets it to the rough ER. GlcNAc-PI is made on the cytoplasmic side of the ER.
- PMID:9463366 (1998): four-component complex PIG-A/PIG-H/PIG-C/GPI1 (=PIGQ) in the ER membrane; complex
has GPI-GlcNAc transferase (GPI-GnT) activity in vitro; PIG-L (2nd step, de-N-acetylation) not in complex.
- PMID:10944123 (2000): adds PIG-P as essential component; DPM2 associates and regulates (enhances activity
~3-fold), coupling GPI-GnT to Dol-P-Man synthase.
- PMID:16162815 (2005): adds PIG-Y (7th component); PIG-Y associates directly with catalytic PIG-A and
regulates GPI-GnT activity. Establishes catalytic activity/function; assigns EC 2.4.1.198.

IntAct/BioPlex interactors used in GOA GO:0005515 IPIs map to complex members:
O94777=DPM2, P57054=PIGP, Q14442=PIGH, Q9BRB3=PIGQ, Q3MUY2=PIGY (all confirmed in UniProt INTERACTION block).
PMID:33961781 = BioPlex 3.0 AP-MS (high-throughput interactome) — recovers PIGP, PIGH.

Localization / topology

Rough ER membrane; single-pass membrane protein. TOPO_DOM 1..421 cytoplasmic (catalytic), TRANSMEM
422..442, TOPO_DOM 443..484 lumenal; region 443..465 required for rough-ER localization PMID:8900170.
GOA carries both GO:0030867 (rough ER membrane) and GO:0005789 (ER membrane); the latter is the general
parent and is the cleaner "located_in" for core functions.

Disease

GOA annotation review summary (32 GOA rows)

MF:
- GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity — CORE. IBA, IEA(EC 2.4.1.198/RHEA:14789),
TAS(PMID:16162815). ACCEPT (the specific, correct catalytic activity).
- GO:0016757 glycosyltransferase activity (IEA InterPro) — parent of GO:0017176; MARK_AS_OVER_ANNOTATED
(correct but less informative; the specific child is annotated).
- GO:0008194 UDP-glycosyltransferase activity (TAS Reactome) — describes UDP-sugar donor; less specific/slightly
off-branch vs the exact EC. MODIFY -> GO:0017176.
- GO:0005515 protein binding (IPI x several, partners = complex members) — bare "protein binding";
MARK_AS_OVER_ANNOTATED (real interactions but uninformative MF; captured by GPI-GnT complex membership).

BP:
- GO:0006506 GPI anchor biosynthetic process — CORE. IBA, IEA, TAS(Reactome). ACCEPT.

CC:
- GO:0000506 GPI-GnT complex — CORE. IBA, IEA, IPI, IDA(PMID:16162815). ACCEPT (part_of).
- GO:0005789 endoplasmic reticulum membrane — IDA(PMID:16162815), TAS(Reactome). ACCEPT (core location).
- GO:0030867 rough endoplasmic reticulum membrane — EXP(PMID:8900170), IEA. ACCEPT (specific location, verified).
- GO:0016020 membrane (HDA, PMID:19946888 NK membrane proteome) — MARK_AS_OVER_ANNOTATED (too general;
high-throughput proteome; ER membrane is the informative location).