Seroatlas · Human Serome Atlas

PITPNA

Phosphatidylinositol transfer protein alpha isoform

Also known as: PIPNA_HUMAN, PITPN, VIB1A

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

Protein identityUniProt · HPA

UniProt accession: Q00169
Gene: PITPNA
Ensembl: ENSG00000174238
Chromosome: 17
Canonical length: 270 aa
Protein class: Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

270 residues, UniProt reviewed canonical sequence.

>Q00169|PITPNA
     1  MVLLKEYRVI LPVSVDEYQV GQLYSVAEAS KNETGGGEGV EVLVNEPYEK DGEKGQYTHK
    61  IYHLQSKVPT FVRMLAPEGA LNIHEKAWNA YPYCRTVITN EYMKEDFLIK IETWHKPDLG
   121  TQENVHKLEP EAWKHVEAVY IDIADRSQVL SKDYKAEEDP AKFKSIKTGR GPLGPNWKQE
   181  LVNQKDCPYM CAYKLVTVKF KWWGLQNKVE NFIHKQERRL FTNFHRQLFC WLDKWVDLTM
   241  DDIRRMEEET KRQLDEMRQK DPVKGMTADD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITPNA 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): 0.25
Highest tissue expression: 85 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 85 nTPM
skin: 82 nTPM
salivary gland: 79 nTPM
small intestine: 77 nTPM
esophagus: 67 nTPM
cerebral cortex: 63 nTPM

Single-cell type

retinal pigment epithelial cells: 1,334 nCPM
neutrophils: 766 nCPM
syncytiotrophoblasts: 382 nCPM
decidual stromal cells: 256 nCPM
monocytes: 252 nCPM
suprabasal keratinocytes: 191 nCPM

Immune cell

neutrophil: 7.6 nTPM
T-reg: 5.3 nTPM
memory B-cell: 4.3 nTPM
MAIT T-cell: 4 nTPM
basophil: 3.8 nTPM
NK-cell: 3.8 nTPM

Brain region

pons: 112 nTPM
cerebral cortex: 97 nTPM
thalamus: 94 nTPM
choroid plexus: 93 nTPM
medulla oblongata: 93 nTPM
hypothalamus: 91 nTPM

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): 0.33
gnomAD pLI: 0.97
gnomAD missense Z: 2.44
DepMap mean gene effect: 0.04
DepMap dependency class: none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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