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

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; AllianceGenome:HGNC:21045
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: mouse all
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Genomic context

Location:: 17q24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (67377281..67697256)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (68253168..68572814)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (65373397..65693372)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PITPNC1 Suppress CD8[+] T cell immune function and promote radioresistance in rectal cancer by modulating FASN/CD155.
Title: PITPNC1 Suppress CD8(+) T cell immune function and promote radioresistance in rectal cancer by modulating FASN/CD155.
The phospholipid transporter PITPNC1 links KRAS to MYC to prevent autophagy in lung and pancreatic cancer.
Title: The phospholipid transporter PITPNC1 links KRAS to MYC to prevent autophagy in lung and pancreatic cancer.
Aberrant overexpression of HOTAIR inhibits abdominal adipogenesis through remodelling of genome-wide DNA methylation and transcription.
Title: Aberrant overexpression of HOTAIR inhibits abdominal adipogenesis through remodelling of genome-wide DNA methylation and transcription.
We propose that Pitpnc1a-expressing neurons alter behavior via modification of neuro-modulatory IGF that acts on downstream wake-promoting circuits
Title: Pitpnc1a Regulates Zebrafish Sleep and Wake Behavior through Modulation of Insulin-like Growth Factor Signaling.
Elevated expression of PITPNC1 in gastric cancer is correlated with an advanced clinical stage and a poor prognosis. PITPNC1 promotes anoikis resistance through enhanced fatty acid oxidation, which is regulated by omental adipocytes and consequently facilitates gastric cancer omental metastasis.
Title: Adipocytes fuel gastric cancer omental metastasis via PITPNC1-mediated fatty acid metabolic reprogramming.
PITPNC1-mediated vesicular release.
Title: PITPNC1 Recruits RAB1B to the Golgi Network to Drive Malignant Secretion.
Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1) binds and transfers phosphatidic acid
Title: Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1) binds and transfers phosphatidic acid.
The most significantly associated SNPs to type 2 diabetes mellitus in this study are expression SNPs to the lymphocyte antigen 75 gene, the ubiquitin-specific peptidase 36 gene, and the phosphatidylinositol transfer protein, cytoplasmic 1 gene.
Title: Integrating genetic association, genetics of gene expression, and single nucleotide polymorphism set analysis to identify susceptibility Loci for type 2 diabetes mellitus.
The phosphatidylinositol transfer protein RdgBbeta binds 14-3-3 via its unstructured C-terminus, whereas its lipid-binding domain interacts with the integral membrane protein ATRAP (angiotensin II type I receptor-associated protein).
Title: The phosphatidylinositol transfer protein RdgBβ binds 14-3-3 via its unstructured C-terminus, whereas its lipid-binding domain interacts with the integral membrane protein ATRAP (angiotensin II type I receptor-associated protein).

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1813 (e-PCR)
- UniSTS:13831

SHGC-152196 (e-PCR)
- UniSTS:177430

SHGC-31408 (e-PCR)
- UniSTS:60221

SHGC-151140 (e-PCR)
- UniSTS:173383

RH94363 (e-PCR)
- UniSTS:91983

D17S1870 (e-PCR)
- UniSTS:75878

RH12432 (e-PCR)
- UniSTS:51304

G59556 (e-PCR)
- UniSTS:136860

PITPNC1_9470 (e-PCR)
- UniSTS:471716

RH70152 (e-PCR)
- UniSTS:41660

WIAF-2541 (e-PCR)
- UniSTS:79809

SHGC-143615 (e-PCR)
- UniSTS:171981

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid transfer activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables phosphatidylcholine transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylglycerol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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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)

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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)

NM_012417.4 → NP_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

A8K473, J3QR20, Q96I07, Q9UKF7

Related

ENSP00000464006.1, ENST00000581322.6

Conserved Domains (1) summary

cd08890
Location:2 → 250

SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)
NM_181671.3 → NP_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/TrEMBL

A0A0C4DGP0

Related

ENSP00000463626.1, ENST00000580974.6

Conserved Domains (1) summary

cd08890
Location:2 → 250

SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)