PITPNM3

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (spleen)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Selective expression in endothelial cells in splenic sinusoids and renal glomeruli.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA022432 , HPA059005
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Spleen

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (spleen)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

83394

UniProt

Q9BZ71 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BZ71

Antibodypedia

PITPNM3 antibodies


PROTEIN BROWSER

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ENST00000262483
 
ENST00000421306
 
ENST00000575201
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PITPNM3-001 ENSP00000262483
ENST00000262483
Q9BZ71
Show all »
Show » Show » 974 106.8 No 0
PITPNM3-002 ENSP00000407882
ENST00000421306
Q9BZ71
Show all »
Show » Show » 938 102.7 No 0
PITPNM3-005 ENSP00000458901
ENST00000575201
Show » 116 13 No 0