Seroatlas · Human Serome Atlas

PITPNM3

Membrane-associated phosphatidylinositol transfer protein 3

Also known as: ACKR6, CORD5, NIR1, PITM3_HUMAN, RDGBA3

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

Protein identityUniProt · HPA

UniProt accession
Q9BZ71
Gene
PITPNM3
Ensembl
ENSG00000091622
Chromosome
17
Canonical length
974 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane

OverviewNCBI Gene

This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

974 residues, UniProt reviewed canonical sequence.

>Q9BZ71|PITPNM3
     1  MAKAGRAGGP PPGGGAPWHL RNVLSDSVES SDDEFFDARE EMAEGKNAIL IGMSQWNSND
    61  LVEQIETMGK LDEHQGEGTA PCTSSILQEK QRELYRVSLR RQRFPAQGSI EIHEDSEEGC
   121  PQRSCKTHVL LLVLHGGNIL DTGAGDPSCK AADIHTFSSV LEKVTRAHFP AALGHILIKF
   181  VPCPAICSEA FSLVSHLNPY SHDEGCLSSS QDHVPLAALP LLAISSPQYQ DAVATVIERA
   241  NQVYREFLKS SDGIGFSGQV CLIGDCVGGL LAFDAICYSA GPSGDSPASS SRKGSISSTQ
   301  DTPVAVEEDC SLASSKRLSK SNIDISSGLE DEEPKRPLPR KQSDSSTYDC EAITQHHAFL
   361  SSIHSSVLKD ESETPAAGGP QLPEVSLGRF DFDVSDFFLF GSPLGLVLAM RRTVLPGLDG
   421  FQVRPACSQV YSFFHCADPS ASRLEPLLEP KFHLVPPVSV PRYQRFPLGD GQSLLLADAL
   481  HTHSPLFLEG SSRDSPPLLD APASPPQASR FQRPGRRMSE GSSHSESSES SDSMAPVGAS
   541  RITAKWWGSK RIDYALYCPD VLTAFPTVAL PHLFHASYWE STDVVAFILR QVMRYESVNI
   601  KESARLDPAA LSPANPREKW LRKRTQVKLR NVTANHRAND VIAAEDGPQV LVGRFMYGPL
   661  DMVALTGEKV DILVMAEPSS GRWVHLDTEI TNSSGRITYN VPRPRRLGVG VYPVKMVVRG
   721  DQTCAMSYLT VLPRGMECVV FSIDGSFAAS VSIMGSDPKV RPGAVDVVRH WQDLGYMILY
   781  ITGRPDMQKQ RVVSWLSQHN FPQGMIFFSD GLVHDPLRQK AIFLRNLMQE CFIKISAAYG
   841  STKDISVYSV LGLPASQIFI VGRPTKKYQT QCQFLSEGYA AHLAALEASH RSRPKKNNSR
   901  MILRKGSFGL HAQPEFLRKR NHLRRTMSVQ QPDPPAANPK PERAQSQPES DKDHERPLPA
   961  LSWARGPPKF ESVP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITPNM3 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)
0.4
Highest tissue expression
58 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 58 nTPM
  • cerebellum: 38 nTPM
  • cerebral cortex: 35 nTPM
  • amygdala: 34 nTPM
  • basal ganglia: 26 nTPM
  • ovary: 26 nTPM

Single-cell type

  • respiratory secretory cells: 54 nCPM
  • conjunctival goblet cells: 52 nCPM
  • respiratory deuterosomal cells: 51 nCPM
  • respiratory basal cells: 50 nCPM
  • esophageal suprabasal cells: 48 nCPM
  • esophageal apical cells: 45 nCPM

Immune cell

  • neutrophil: 2.2 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • amygdala: 72 nTPM
  • cerebral cortex: 70 nTPM
  • basal ganglia: 53 nTPM
  • white matter: 48 nTPM
  • hippocampal formation: 37 nTPM
  • cerebellum: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PITPNM3.

Disease | AllUniProt

Conditions PITPNM3 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 1,005 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.21
gnomAD pLI
1
gnomAD missense Z
2.01
DepMap mean gene effect
-0.12
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PITPNM3 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 PITPNM3 as an antibody target. Whether an autoantibody or antibody against PITPNM3 could matter depends on whether native PITPNM3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITPNM3 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 PITPNM3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PITPNM3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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