Format

Send to:

Choose Destination

PITPNM1 phosphatidylinositol transfer protein membrane associated 1 [ Homo sapiens (human) ]

Gene ID: 9600, updated on 4-Jun-2020

Summary

Official Symbol
PITPNM1provided by HGNC
Official Full Name
phosphatidylinositol transfer protein membrane associated 1provided by HGNC
Primary source
HGNC:HGNC:9003
See related
Ensembl:ENSG00000110697 MIM:608794
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Rd9; NIR2; RDGB; DRES9; RDGB1; RDGBA; PITPNM; RDGBA1
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]
Expression
Ubiquitous expression in spleen (RPKM 10.5), lymph node (RPKM 9.7) and 24 other tissues See more
Orthologs

Genomic context

See PITPNM1 in Genome Data Viewer
Location:
11q13.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67491760..67505372, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67259231..67272843, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene calcium binding protein 4 Neighboring gene transmembrane protein 134 Neighboring gene aryl hydrocarbon receptor interacting protein Neighboring gene microRNA 6752 Neighboring gene cyclin dependent kinase 2 associated protein 2 Neighboring gene calcium binding protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44997

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor tyrosine kinase binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
brain development TAS
Traceable Author Statement
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
phototransduction TAS
Traceable Author Statement
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
midbody IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
membrane-associated phosphatidylinositol transfer protein 1
Names
NIR-2
PITPnm 1
PYK2 N-terminal domain-interacting receptor 2
drosophila retinal degeneration B homolog
retinal degeneration B alpha 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130848.2NP_001124320.1  membrane-associated phosphatidylinositol transfer protein 1 isoform b

    See identical proteins and their annotated locations for NP_001124320.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
    Source sequence(s)
    AA465501, AK312886, BC022230, X98654
    Consensus CDS
    CCDS44659.1
    UniProtKB/Swiss-Prot
    O00562
    UniProtKB/TrEMBL
    B2R787
    Related
    ENSP00000398787.2, ENST00000436757.6
    Conserved Domains (4) summary
    cd08889
    Location:1257
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10221153
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:689878
    DDHD; DDHD domain
    cl21470
    Location:9631027
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
  2. NM_004910.3NP_004901.2  membrane-associated phosphatidylinositol transfer protein 1 isoform a

    See identical proteins and their annotated locations for NP_004901.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA465501, AF334584, AK312886, DA318858, X98654
    Consensus CDS
    CCDS31620.1
    UniProtKB/Swiss-Prot
    O00562
    UniProtKB/TrEMBL
    A0A024R5I7, B2R787
    Related
    ENSP00000348772.3, ENST00000356404.8
    Conserved Domains (4) summary
    cd08889
    Location:1257
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10231154
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:689879
    DDHD; DDHD domain
    cl21470
    Location:9641028
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67491760..67505372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545396.3XP_011543698.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

    Conserved Domains (4) summary
    cd08889
    Location:1257
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10221153
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:688878
    DDHD; DDHD domain
    cl21470
    Location:9631027
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
  2. XM_017018586.1XP_016874075.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O00562
    UniProtKB/TrEMBL
    A0A024R5I7
    Conserved Domains (4) summary
    cd08889
    Location:1257
    SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
    smart00775
    Location:10231154
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:689879
    DDHD; DDHD domain
    cl21470
    Location:9641028
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

RNA

  1. XR_002957211.1 RNA Sequence

  2. XR_002957210.1 RNA Sequence

  3. XR_001748048.2 RNA Sequence

  4. XR_950112.3 RNA Sequence

Support Center