PITPNM1
Membrane-associated phosphatidylinositol transfer protein 1
Also known as: DRES9, NIR2, PITM1_HUMAN, PITPNM, Rd9, RDGB, RDGB1, RDGBA1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00562
- Gene
- PITPNM1
- Ensembl
- ENSG00000110697
- Chromosome
- 11
- Canonical length
- 1244 aa
- Protein class
- Predicted intracellular proteins, Transporters
- Subcellular location
- Vesicles,Cytosol
OverviewNCBI Gene
PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
1244 residues, UniProt reviewed canonical sequence.
>O00562|PITPNM1
1 MLIKEYHILL PMSLDEYQVA QLYMIQKKSR EESSGEGSGV EILANRPYTD GPGGSGQYTH
61 KVYHVGSHIP GWFRALLPKA ALQVEEESWN AYPYTRTRYT CPFVEKFSIE IETYYLPDGG
121 QQPNVFNLSG AERRQRILDT IDIVRDAVAP GEYKAEEDPR LYHSVKTGRG PLSDDWARTA
181 AQTGPLMCAY KLCKVEFRYW GMQAKIEQFI HDVGLRRVML RAHRQAWCWQ DEWTELSMAD
241 IRALEEETAR MLAQRMAKCN TGSEGSEAQP PGKPSTEARS AASNTGTPDG PEAPPGPDAS
301 PDASFGKQWS SSSRSSYSSQ HGGAVSPQSL SEWRMQNIAR DSENSSEEEF FDAHEGFSDS
361 EEVFPKEMTK WNSNDFIDAF ASPVEAEGTP EPGAEAAKGI EDGAQAPRDS EGLDGAGELG
421 AEACAVHALF LILHSGNILD SGPGDANSKQ ADVQTLSSAF EAVTRIHFPE ALGHVALRLV
481 PCPPICAAAY ALVSNLSPYS HDGDSLSRSQ DHIPLAALPL LATSSSRYQG AVATVIARTN
541 QAYSAFLRSP EGAGFCGQVA LIGDGVGGIL GFDALCHSAN AGTGSRGSSR RGSMNNELLS
601 PEFGPVRDPL ADGVEGLGRG SPEPSALPPQ RIPSDMASPE PEGSQNSLQA APATTSSWEP
661 RRASTAFCPP AASSEAPDGP SSTARLDFKV SGFFLFGSPL GLVLALRKTV MPALEAAQMR
721 PACEQIYNLF HAADPCASRL EPLLAPKFQA IAPLTVPRYQ KFPLGDGSSL LLADTLQTHS
781 SLFLEELEML VPSTPTSTSG AFWKGSELAT DPPAQPAAPS TTSEVVKILE RWWGTKRIDY
841 SLYCPEALTA FPTVTLPHLF HASYWESADV VAFILRQVIE KERPQLAECE EPSIYSPAFP
901 REKWQRKRTQ VKIRNVTSNH RASDTVVCEG RPQVLSGRFM YGPLDVVTLT GEKVDVYIMT
961 QPLSGKWIHF GTEVTNSSGR LTFPVPPERA LGIGVYPVRM VVRGDHTYAE CCLTVVARGT
1021 EAVVFSIDGS FTASVSIMGS DPKVRAGAVD VVRHWQDSGY LIVYVTGRPD MQKHRVVAWL
1081 SQHNFPHGVV SFCDGLTHDP LRQKAMFLQS LVQEVELNIV AGYGSPKDVA VYAALGLSPS
1141 QTYIVGRAVR KLQAQCQFLS DGYVAHLGQL EAGSHSHASS GPPRAALGKS SYGVAAPVDF
1201 LRKQSQLLRS RGPSQAEREG PGTPPTTLAR GKARSISLKL DSEELocalizationUniProt · AlphaFold · HPA
Whether an antibody against PITPNM1 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
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 45 nTPM
- retina: 38 nTPM
- cerebellum: 38 nTPM
- hypothalamus: 32 nTPM
- amygdala: 32 nTPM
- kidney: 29 nTPM
Single-cell type
- fallopian tube ciliated cells: 78 nCPM
- endometrial ciliated cells: 74 nCPM
- respiratory ciliated cells: 71 nCPM
- epididymal efferent duct ciliated cells: 50 nCPM
- colonocytes: 44 nCPM
- enterocytes: 40 nCPM
Immune cell
- intermediate monocyte: 3.3 nTPM
- non-classical monocyte: 2.7 nTPM
- classical monocyte: 1.4 nTPM
- neutrophil: 1.4 nTPM
- gdT-cell: 1.1 nTPM
- total PBMC: 1.1 nTPM
Brain region
- thalamus: 159 nTPM
- midbrain: 116 nTPM
- hypothalamus: 99 nTPM
- cerebral cortex: 96 nTPM
- amygdala: 91 nTPM
- choroid plexus: 78 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PITPNM1.
Disease | ImmuneIEDB
Conditions an epitope on PITPNM1 was assayed in.
- skin melanoma T cell
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)
- 0.43
- gnomAD pLI
- 0
- gnomAD missense Z
- 3.19
- DepMap mean gene effect
- -0.22
- 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
- brain development
- lipid metabolic process
- phosphatidylinositol biosynthetic process
- phospholipid transport
- phototransduction
- protein transport
Molecular functions
- calcium ion binding
- phosphatidic acid binding
- phosphatidylcholine binding
- phosphatidylcholine transporter activity
- phosphatidylinositol binding
- phosphatidylinositol transfer activity
- receptor tyrosine kinase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PITPNM1 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 PITPNM1 as an antibody target. Whether an autoantibody or antibody against PITPNM1 could matter depends on whether native PITPNM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PITPNM1 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 PITPNM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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