PITPNM1 - phosphatidylinositol transfer protein membrane associated 1 Gene

Homo sapiens

Also known as Rd9; NIR2; RDGB; DRES9; RDGB1; RDGBA; PITPNM; RDGBA1

Gene ID: 9600 | Gene type: protein coding

About PITPNM1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,491,768-67,506,266 (from NCBI)

This gene has 16 transcripts (splice variants), 116 orthologues and 5 paralogues. Ubiquitous expression in spleen (RPKM 10.5), lymph node (RPKM 9.7) and 24 other tissues.

Summary

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]

PITPNM1 Products(2)

mRNA	Protein	Name
NM_001130848.2	NP_001124320.1	membrane-associated phosphatidylinositol transfer protein 1 isoform b
NM_004910.3	NP_004901.2	membrane-associated phosphatidylinositol transfer protein 1 isoform a

PITPNM1 Protein Structure

IP_trans

DDHD

LNS2

0
200
400
600
800
1000
1244 a.a.

Protein Preferred Names

Protein Names

membrane-associated phosphatidylinositol transfer protein 1

NIR-2

Related Diseases

Diseases

Alias

Retinal Degeneration

Degeneration Of Retina

Retinal Cone Dystrophy 1

RCD1	Retinal Cone Dystrophy-1
Retinal Cone Degeneration	Cone Dystrophy, Autosomal Dominant
Cone Dystrophy Autosomal Dominant	Doid:0081024

Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5

Nemaline Myopathy 1

Cap Myopathy 1	NEM1
Nemaline Myopathy 1, Autosomal Dominant Or Recessive	Nemaline Myopathy, Type 1
CAPM1	Cap Disease
Cap Myopathy Tpm3-Related	Nemaline Myopathy 1 Autosomal Dominant Or Recessive
Myopathy, Nemaline, Type 1	Cap Myopathy

Retinitis Pigmentosa 22

RP22	Retinitis Pigmentosa-22

Thymus Sarcomatoid Carcinoma

Thymic Carcinosarcoma

Thymic Sarcomatoid Carcinoma

Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8	ALS8
Sclerosis, Lateral, Amyotrophic, Type Type 8

Bardet-Biedl Syndrome 1

BBS1	Bardet-Biedl Syndrome 1, Modifier Of
Bardet-Biedl Syndrome	BBS
Bardet-Biedl Syndrome, Type 1	Laurence-Moon-Bardet-Biedl Syndrome

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10577	PITPNM1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PITPNM1	VGNC	VGNC:44586
Mus musculus	PITPNM1	MGD	MGI:1197524
Macaca mulatta	PITPNM1	VGNC	VGNC:76007
Rattus norvegicus	PITPNM1	RGD	RGD:1306710
Bos taurus	PITPNM1	VGNC	VGNC:32921
Felis catus	PITPNM1	VGNC	VGNC:68869

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