Seroatlas · Human Serome Atlas

PIGB

GPI alpha-1,2-mannosyltransferase 3

Also known as: PIGB_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q92521
Gene: PIGB
Ensembl: ENSG00000069943
Chromosome: 15
Canonical length: 554 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

554 residues, UniProt reviewed canonical sequence.

>Q92521|PIGB
     1  MRRPLSKCGM EPGGGDASLT LHGLQNRSHG KIKLRKRKST LYFNTQEKSA RRRGDLLGEN
    61  IYLLLFTIAL RILNCFLVQT SFVPDEYWQS LEVSHHMVFN YGYLTWEWTE RLRSYTYPLI
   121  FASIYKILHL LGKDSVQLLI WIPRLAQALL SAVADVRLYS LMKQLENQEV ARWVFFCQLC
   181  SWFTWYCCTR TLTNTMETVL TIIALFYYPL EGSKSMNSVK YSSLVALAFI IRPTAVILWT
   241  PLLFRHFCQE PRKLDLILHH FLPVGFVTLS LSLMIDRIFF GQWTLVQFNF LKFNVLQNWG
   301  TFYGSHPWHW YFSQGFPVIL GTHLPFFIHG CYLAPKRYRI LLVTVLWTLL VYSMLSHKEF
   361  RFIYPVLPFC MVFCGYSLTH LKTWKKPALS FLFLSNLFLA LYTGLVHQRG TLDVMSHIQK
   421  VCYNNPNKSS ASIFIMMPCH STPYYSHVHC PLPMRFLQCP PDLTGKSHYL DEADVFYLNP
   481  LNWLHREFHD DASLPTHLIT FSILEEEISA FLISSNYKRT AVFFHTHLPE GRIGSHIYVY
   541  ERKLKGKFNM KMKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGB 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: 9
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 13 nTPM
epididymis: 10 nTPM
parathyroid gland: 10 nTPM
kidney: 9.6 nTPM
liver: 8.8 nTPM
bone marrow: 8.6 nTPM

Single-cell type

cardiomyocytes: 132 nCPM
neutrophils: 112 nCPM
neutrophil progenitors: 89 nCPM
b-cells: 77 nCPM
myonuclei: 73 nCPM
rod photoreceptor cells: 64 nCPM

Immune cell

neutrophil: 15 nTPM
basophil: 14 nTPM
non-classical monocyte: 12 nTPM
intermediate monocyte: 9.7 nTPM
classical monocyte: 7.7 nTPM
MAIT T-cell: 7 nTPM

Brain region

hypothalamus: 5.5 nTPM
white matter: 5.3 nTPM
choroid plexus: 5.1 nTPM
medulla oblongata: 4.6 nTPM
midbrain: 4.4 nTPM
cerebellum: 4.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGB.

Disease | AllUniProt

Conditions PIGB is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 80 (DEE80) MIM:618580

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 414 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 80

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): 1.06
gnomAD pLI: 0
gnomAD missense Z: 0.6
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

GPI anchor biosynthetic process

Molecular functions

alpha-1,2-mannosyltransferase activity
GPI mannosyltransferase activity
dol-P-Man:Man(2)GlcN-acyl-PI alpha-1,2-mannosyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

PIGB 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 PIGB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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