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PITPNM3 - PITPNM family member 3 Gene

Also Known as NIR1; ACKR6; CORD5; RDGBA3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83394

About PITPNM3

Cytogenetic location: 17p13.2-p13.1 Genomic coordinates (GRCh38): 17:6,451,263-6,556,555 (from NCBI)

This gene has 5 transcripts (splice variants), 176 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in spleen (RPKM 27.1), ovary (RPKM 12.0) and 6 other tissues.

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]

PITPNM3 Products (2)

mRNA	Protein	Name
NM_001165966.2	NP_001159438.1	membrane-associated phosphatidylinositol transfer protein 3 isoform 2
NM_031220.4	NP_112497.2	membrane-associated phosphatidylinositol transfer protein 3 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	10022914	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10022914	GOA
enables receptor tyrosine kinase binding	IMP IMP: Inferred from mutant phenotype	10022914	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PITPNM3 Protein Structure

DDHD

LNS2

0
200
400
600
800
974 a.a.

Protein Preferred Names	Protein Names
membrane-associated phosphatidylinositol transfer protein 3	NIR-1

PITPNM3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PITPNM3	Q9BZ71	CCL18	Homo sapiens	P55774	Anti Bait CoIP	21481794

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cone-Rod Dystrophy 5	CORD5 Dystrophy, Cone-Rod, Type 5
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Arteriovenous Malformations Of The Brain	Cerebral Arteriovenous Malformation Intracranial Arteriovenous Malformation Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To Intracranial Arteriovenous Malformations Bavm Cerebral Arteriovenous Malformations Intracranial Hemorrhage In Brain Cerebrovascular Malformations Arteriovenous Malformation Of The Brain, Somatic Intracranial Avm Arteriovenous Malformations Cerebral
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinal Degeneration	Degeneration Of Retina
Cone-Rod Dystrophy 17	CORD17
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10579	PITPNM3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PITPNM3	MGD	MGI:2685726
Felis catus	PITPNM3	VGNC	VGNC:64189
Canis familiaris	PITPNM3	VGNC	VGNC:53433
Rattus norvegicus	PITPNM3	RGD	RGD:1308200
Macaca mulatta	PITPNM3	VGNC	VGNC:75842
Bos taurus	PITPNM3	VGNC	VGNC:52807