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PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1 [ Homo sapiens (human) ]

Gene ID: 26207, updated on 21-Apr-2019

Summary

Official Symbol
PITPNC1provided by HGNC
Official Full Name
phosphatidylinositol transfer protein cytoplasmic 1provided by HGNC
Primary source
HGNC:HGNC:21045
See related
Ensembl:ENSG00000154217 MIM:605134
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RDGBB; RDGBB1; MRDGBbeta; RDGB-BETA; M-RDGB-beta
Summary
This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]
Expression
Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 5.0) and 24 other tissues See more
Orthologs

Genomic context

See PITPNC1 in Genome Data Viewer
Location:
17q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (67377281..67697263)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65373397..65693379)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 447 Neighboring gene proteasome 26S subunit, non-ATPase 12 Neighboring gene RNA, 7SL, cytoplasmic 756, pseudogene Neighboring gene microRNA 548aa-2 Neighboring gene microRNA 548d-2 Neighboring gene uncharacterized LOC101928045 Neighboring gene nucleolar protein 11 Neighboring gene small nucleolar RNA, H/ACA box 38B Neighboring gene ribosomal protein SA pseudogene 67

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of lung function phenotypes in a founder population.
NHGRI GWA Catalog
Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT phosphatidylcholine transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylglycerol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cytoplasmic phosphatidylinositol transfer protein 1
Names
M-rdgB beta
mammalian rdgB homolog beta
retinal degeneration B beta 1
retinal degeneration B homolog beta

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_012417.4NP_036549.2  cytoplasmic phosphatidylinositol transfer protein 1 isoform a

    See identical proteins and their annotated locations for NP_036549.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC079331, AF171102, AI126821, BC037261, BE906407, BG504645, BU160959
    Consensus CDS
    CCDS58588.1
    UniProtKB/Swiss-Prot
    Q9UKF7
    Related
    ENSP00000464006.1, ENST00000581322.6
    Conserved Domains (1) summary
    cd08890
    Location:2250
    SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)
  2. NM_181671.2NP_858057.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform b

    See identical proteins and their annotated locations for NP_858057.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC079331, AI126821, BC037261, BC067095, BG504645
    Consensus CDS
    CCDS58587.1
    UniProtKB/Swiss-Prot
    Q9UKF7
    UniProtKB/TrEMBL
    A0A0C4DGP0
    Related
    ENSP00000463626.1, ENST00000580974.5
    Conserved Domains (1) summary
    cd08890
    Location:2250
    SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    67377281..67697263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024444.1XP_016879933.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X4

  2. XM_005257216.2XP_005257273.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005257273.1

    Conserved Domains (1) summary
    cd08890
    Location:1227
    SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)
  3. XM_017024442.1XP_016879931.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X1

  4. XM_017024443.1XP_016879932.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X3

  5. XM_017024445.1XP_016879934.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X4

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