PITPNM1 - phosphatidylinositol transfer protein membrane associated 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9600

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

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
10022914 GOA
enables phosphatidic acid binding IDA
IDA: Inferred from direct assay
22822086 GOA
enables phosphatidylcholine binding IDA
IDA: Inferred from direct assay
22822086 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
22822086 GOA
enables phosphatidylinositol transfer activity IDA
IDA: Inferred from direct assay
10531358 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables receptor tyrosine kinase binding IMP
IMP: Inferred from mutant phenotype
10022914 GOA
Biological Process GO Annotation Evidence References Source
involved in phospholipid transport IDA
IDA: Inferred from direct assay
22822086 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

PITPNM1 Protein Structure

IP_trans

IP_trans: Phosphatidylinositol transfer protein (1 - 252)

DDHD

DDHD: DDHD domain (686 - 879)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (1023 - 1153)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10577 PITPNM1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PITPNM1 NCBI