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PITPNM3

GENERAL INFORMATION

Gene name

 PITPNM3

Gene description

 PITPNM family member 3

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enhanced (HaCaT, hTCEpi)
HPA (normal tissue):Tissue enhanced (spleen)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Estimation of protein expression could not be performed. View primary data.

ANTIBODY IHC RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending external verification.

Reliability score

 Uncertain based on 2 antibodies.
HPA022432 , HPA059005
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PROGNOSTIC SUMMARY
Prognostic marker in head and neck cancer (favourable).
Head and neck cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA022432
HPA059005

GENE INFORMATION

Gene name

 PITPNM3 (HGNC Symbol)

Synonyms

 ACKR6, CORD5, NIR1, RDGBA3

Description

 PITPNM family member 3 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 17

Cytoband

Chromosome location (bp)

 6451264 - 6556494

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000091622 (version 83.38)

Entrez gene

 83394

UniProt

 Q9BZ71 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BZ71

Antibodypedia

 PITPNM3 antibodies

PROTEIN BROWSER
PITPNM3-001
PITPNM3-002
PITPNM3-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PITPNM3-001
ENSP00000262483
ENST00000262483
Q9BZ71 [Direct mapping]
Membrane-associated phosphatidylinositol transfer protein 3
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   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0008289 [lipid binding]
GO:0008526 [phosphatidylinositol transporter activity]
GO:0012505 [endomembrane system]
GO:0015914 [phospholipid transport]
GO:0016021 [integral component of membrane]
GO:0030971 [receptor tyrosine kinase binding]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046872 [metal ion binding]
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 974 aa
106.8 kDa 		No 0
PITPNM3-002
ENSP00000407882
ENST00000421306
Q9BZ71 [Direct mapping]
Membrane-associated phosphatidylinositol transfer protein 3
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   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0008289 [lipid binding]
GO:0008526 [phosphatidylinositol transporter activity]
GO:0012505 [endomembrane system]
GO:0015914 [phospholipid transport]
GO:0016021 [integral component of membrane]
GO:0030971 [receptor tyrosine kinase binding]
GO:0046488 [phosphatidylinositol metabolic process]
GO:0046872 [metal ion binding]
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 938 aa
102.7 kDa 		No 0
PITPNM3-005
ENSP00000458901
ENST00000575201
I3L1K1 [Direct mapping]
Membrane-associated phosphatidylinositol transfer protein 3
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005622 [intracellular]
GO:0006810 [transport]
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 116 aa
13 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.