Tissue expression of PITPNM3 - Summary - The Human Protein Atlas

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PITPNM3

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Tissue enhanced (spleen)
GTEx:	Mixed
FANTOM5:	Tissue enhanced (cerebellum, spleen)

Protein evidence

Evidence at protein level

Protein expression

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

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

N/A

Caudate

N/A

N/A

Cerebellum

N/A

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

N/A

Bronchus

N/A

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

N/A

Skin

N/A

Skin

N/A

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (spleen)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum, spleen)

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 Show all	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] Show all	974 aa 106.8 kDa	No	0
PITPNM3-002 ENSP00000407882 ENST00000421306	Q9BZ71 [Direct mapping] Membrane-associated phosphatidylinositol transfer protein 3 Show all	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] Show all	938 aa 102.7 kDa	No	0
PITPNM3-005 ENSP00000458901 ENST00000575201	I3L1K1 [Direct mapping] Membrane-associated phosphatidylinositol transfer protein 3 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005622 [intracellular] GO:0006810 [transport] Show all	116 aa 13 kDa	No	0

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The Project

The Human Protein Atlas

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