Seroatlas · Human Serome Atlas

PPFIA3

Liprin-alpha-3

Also known as: KIAA0654, LIPA3_HUMAN, LPNA3, MGC126567, MGC126569

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

Protein identityUniProt · HPA

UniProt accession: O75145
Gene: PPFIA3
Ensembl: ENSG00000177380
Chromosome: 19
Canonical length: 1194 aa
Protein class: Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1194 residues, UniProt reviewed canonical sequence.

>O75145|PPFIA3
     1  MMCEVMPTIS EDGRRGSALG PDEAGGELER LMVTMLTERE RLLETLREAQ DGLATAQLRL
    61  RELGHEKDSL QRQLSIALPQ EFAALTKELN LCREQLLERE EEIAELKAER NNTRLLLEHL
   121  ECLVSRHERS LRMTVVKRQA QSPGGVSSEV EVLKALKSLF EHHKALDEKV RERLRMALER
   181  VAVLEEELEL SNQETLNLRE QLSRRRSGLE EPGKDGDGQT LANGLGPGGD SNRRTAELEE
   241  ALERQRAEVC QLRERLAVLC RQMSQLEEEL GTAHRELGKA EEANSKLQRD LKEALAQRED
   301  MEERITTLEK RYLSAQREAT SLHDANDKLE NELASKESLY RQSEEKSRQL AEWLDDAKQK
   361  LQQTLQKAET LPEIEAQLAQ RVAALNKAEE RHGNFEERLR QLEAQLEEKN QELQRARQRE
   421  KMNDDHNKRL SETVDKLLSE SNERLQLHLK ERMGALEEKN SLSEEIANMK KLQDELLLNK
   481  EQLLAEMERM QMEIDQLRGR PPSSYSRSLP GSALELRYSQ APTLPSGAHL DPYVAGSGRA
   541  GKRGRWSGVK EEPSKDWERS APAGSIPPPF PGELDGSDEE EAEGMFGAEL LSPSGQADVQ
   601  TLAIMLQEQL EAINKEIKLI QEEKETTEQR AEELESRVSS SGLDSLGRYR SSCSLPPSLT
   661  TSTLASPSPP SSGHSTPRLA PPSPAREGTD KANHVPKEEA GAPRGEGPAI PGDTPPPTPR
   721  SARLERMTQA LALQAGSLED GGPPRGSEGT PDSLHKAPKK KSIKSSIGRL FGKKEKGRMG
   781  PPGRDSSSLA GTPSDETLAT DPLGLAKLTG PGDKDRRNKR KHELLEEACR QGLPFAAWDG
   841  PTVVSWLELW VGMPAWYVAA CRANVKSGAI MANLSDTEIQ REIGISNPLH RLKLRLAIQE
   901  MVSLTSPSAP ASSRTSTGNV WMTHEEMESL TATTKPETKE ISWEQILAYG DMNHEWVGND
   961  WLPSLGLPQY RSYFMESLVD ARMLDHLNKK ELRGQLKMVD SFHRVSLHYG IMCLKRLNYD
  1021  RKDLERRREE SQTQIRDVMV WSNERVMGWV SGLGLKEFAT NLTESGVHGA LLALDETFDY
  1081  SDLALLLQIP TQNAQARQLL EKEFSNLISL GTDRRLDEDS AKSFSRSPSW RKMFREKDLR
  1141  GVTPDSAEML PPNFRSAAAG ALGSPGLPLR KLQPEGQTSG SSRADGVSVR TYSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPFIA3 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 61 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 61 nTPM
cerebellum: 57 nTPM
pituitary gland: 44 nTPM
skin: 41 nTPM
amygdala: 40 nTPM
hippocampal formation: 36 nTPM

Single-cell type

retinal horizontal cells: 72 nCPM
retinal amacrine cells: 69 nCPM
lactotrophs: 64 nCPM
retinal ganglion cells: 54 nCPM
somatotrophs: 47 nCPM
retinal bipolar cells: 45 nCPM

Immune cell

naive CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebral cortex: 70 nTPM
hippocampal formation: 50 nTPM
basal ganglia: 49 nTPM
white matter: 49 nTPM
amygdala: 43 nTPM
thalamus: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPFIA3.

Disease | AllUniProt

Conditions PPFIA3 is implicated in, by any mechanism.

Paul-Chao neurodevelopmental syndrome (NEDPACH) MIM:621122

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 222 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

PPFIA3-related disorder
PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
Neurodevelopmental delay
PPFIA3-associated neurodevelopmental disorder

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 5.49
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PPFIA3 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 PPFIA3 as an antibody target. Whether an autoantibody or antibody against PPFIA3 could matter depends on whether native PPFIA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPFIA3 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 PPFIA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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