Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26207
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatidylinositol transfer protein cytoplasmic 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PITPNC1
Synonyms (NCBI Gene) Gene synonyms aliases	M-RDGB-beta, MRDGBbeta, RDGB-BETA, RDGBB, RDGBB1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 m

Show/Hide all(140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006544	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006544	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006544	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT006544	hsa-miR-126-3p	ELISA, Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22170610
MIRT018806	hsa-miR-335-5p	Microarray	18185580
MIRT021552	hsa-miR-142-3p	Microarray	17612493
MIRT025935	hsa-miR-7-5p	Microarray	17612493
MIRT026883	hsa-miR-192-5p	Microarray	19074876
MIRT030173	hsa-miR-26b-5p	Microarray	19088304
MIRT521889	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT521888	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT521887	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT521886	hsa-miR-6768-5p	HITS-CLIP	21572407
MIRT521885	hsa-miR-5692b	HITS-CLIP	21572407
MIRT521884	hsa-miR-5692c	HITS-CLIP	21572407
MIRT521883	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT521882	hsa-miR-4672	HITS-CLIP	21572407
MIRT521881	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT521880	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT521878	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT521889	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT521888	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT521887	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT521886	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT521885	hsa-miR-5692b	PAR-CLIP	21572407
MIRT521884	hsa-miR-5692c	PAR-CLIP	21572407
MIRT521883	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT521882	hsa-miR-4672	PAR-CLIP	21572407
MIRT521881	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT521880	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT521878	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540415	hsa-miR-548aa	PAR-CLIP	21572407
MIRT540414	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT540413	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT540412	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT540411	hsa-miR-140-3p	PAR-CLIP	21572407
MIRT540410	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT540408	hsa-miR-4678	PAR-CLIP	21572407
MIRT540409	hsa-miR-935	PAR-CLIP	21572407
MIRT540406	hsa-miR-4635	PAR-CLIP	21572407
MIRT540407	hsa-miR-3665	PAR-CLIP	21572407
MIRT540405	hsa-miR-657	PAR-CLIP	21572407
MIRT540404	hsa-miR-488-3p	PAR-CLIP	21572407
MIRT540403	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT540402	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT540401	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT540400	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT540399	hsa-miR-507	PAR-CLIP	21572407
MIRT540398	hsa-miR-557	PAR-CLIP	21572407
MIRT540397	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT540396	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT540395	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT540394	hsa-miR-548v	PAR-CLIP	21572407
MIRT521889	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT521888	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT521887	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT521886	hsa-miR-6768-5p	PAR-CLIP	23446348
MIRT521885	hsa-miR-5692b	PAR-CLIP	23446348
MIRT521884	hsa-miR-5692c	PAR-CLIP	23446348
MIRT521883	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521882	hsa-miR-4672	PAR-CLIP	23446348
MIRT521881	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT521880	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521879	hsa-miR-6083	PAR-CLIP	23446348
MIRT521878	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT521889	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT521888	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT521887	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT521886	hsa-miR-6768-5p	HITS-CLIP	21572407
MIRT521885	hsa-miR-5692b	HITS-CLIP	21572407
MIRT521884	hsa-miR-5692c	HITS-CLIP	21572407
MIRT521883	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT521882	hsa-miR-4672	HITS-CLIP	21572407
MIRT521881	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT521880	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT521878	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT521889	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT521888	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT521887	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT521886	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT521885	hsa-miR-5692b	PAR-CLIP	21572407
MIRT521884	hsa-miR-5692c	PAR-CLIP	21572407
MIRT521883	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT521882	hsa-miR-4672	PAR-CLIP	21572407
MIRT521881	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT521880	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT521878	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540415	hsa-miR-548aa	PAR-CLIP	21572407
MIRT540414	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT540413	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT540412	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT540411	hsa-miR-140-3p	PAR-CLIP	21572407
MIRT540410	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT540408	hsa-miR-4678	PAR-CLIP	21572407
MIRT540409	hsa-miR-935	PAR-CLIP	21572407
MIRT540406	hsa-miR-4635	PAR-CLIP	21572407
MIRT540407	hsa-miR-3665	PAR-CLIP	21572407
MIRT540405	hsa-miR-657	PAR-CLIP	21572407
MIRT540404	hsa-miR-488-3p	PAR-CLIP	21572407
MIRT540403	hsa-miR-6511b-5p	PAR-CLIP	21572407
MIRT540402	hsa-miR-6811-5p	PAR-CLIP	21572407
MIRT540401	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT540400	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT540399	hsa-miR-507	PAR-CLIP	21572407
MIRT540398	hsa-miR-557	PAR-CLIP	21572407
MIRT540397	hsa-miR-3680-3p	PAR-CLIP	21572407
MIRT540396	hsa-miR-548au-3p	PAR-CLIP	21572407
MIRT540395	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT540394	hsa-miR-548v	PAR-CLIP	21572407
MIRT521889	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT521888	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT521887	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT521886	hsa-miR-6768-5p	PAR-CLIP	23446348
MIRT521885	hsa-miR-5692b	PAR-CLIP	23446348
MIRT521884	hsa-miR-5692c	PAR-CLIP	23446348
MIRT521883	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT521882	hsa-miR-4672	PAR-CLIP	23446348
MIRT521881	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT521880	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521879	hsa-miR-6083	PAR-CLIP	23446348
MIRT521878	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT1236706	hsa-miR-1252	CLIP-seq
MIRT1236707	hsa-miR-330-3p	CLIP-seq
MIRT1236708	hsa-miR-361-5p	CLIP-seq
MIRT1236709	hsa-miR-4274	CLIP-seq
MIRT1236710	hsa-miR-4658	CLIP-seq
MIRT1236711	hsa-miR-4684-5p	CLIP-seq
MIRT1236712	hsa-miR-4699-5p	CLIP-seq
MIRT1236713	hsa-miR-4758-5p	CLIP-seq
MIRT1236714	hsa-miR-4765	CLIP-seq
MIRT1236715	hsa-miR-4768-5p	CLIP-seq
MIRT1236716	hsa-miR-4324	CLIP-seq
MIRT1236717	hsa-miR-4633-5p	CLIP-seq
MIRT1236718	hsa-miR-4693-3p	CLIP-seq
MIRT1236719	hsa-miR-496	CLIP-seq
MIRT1236720	hsa-miR-532-5p	CLIP-seq
MIRT1236721	hsa-miR-567	CLIP-seq
MIRT1236708	hsa-miR-361-5p	CLIP-seq
MIRT1236711	hsa-miR-4684-5p	CLIP-seq
MIRT1236715	hsa-miR-4768-5p	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 26977884, 32296183
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10531358
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006869	Process	Lipid transport	IEA
GO:0007165	Process	Signal transduction	IMP	10531358
GO:0008289	Function	Lipid binding	IEA
GO:0008525	Function	Phosphatidylcholine transporter activity	IDA	22822086
GO:0008526	Function	Phosphatidylinositol transfer activity	IBA
GO:0008526	Function	Phosphatidylinositol transfer activity	IDA	22822086
GO:0008526	Function	Phosphatidylinositol transfer activity	IEA
GO:0008526	Function	Phosphatidylinositol transfer activity	IMP	10531358
GO:0015914	Process	Phospholipid transport	IDA	22822086
GO:0015914	Process	Phospholipid transport	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0035091	Function	Phosphatidylinositol binding	IDA	22822086
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0070300	Function	Phosphatidic acid binding	IDA	22822086
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:1901611	Function	Phosphatidylglycerol binding	IDA	22822086
GO:1990050	Function	Phosphatidic acid transfer activity	IDA	22822086

MIM	HGNC	e!Ensembl
605134	21045	ENSG00000154217

Protein

UniProt ID

Q9UKF7

Protein name

Cytoplasmic phosphatidylinositol transfer protein 1 (Mammalian rdgB homolog beta) (M-rdgB beta) (MrdgBbeta) (Retinal degeneration B homolog beta) (RdgBbeta)

Protein function

[Isoform 1]: Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidic acid (PA) between membranes (PubMed:10531358, PubMed:22822086). Binds PA derived from the phospholipase D signaling pathway and among the cellular PA species, pref

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02121	IP_trans	1 → 243	Phosphatidylinositol transfer protein	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10531358}.

Sequence

MLLKEYRICMPLTVDEYKIGQLYMISKHSHEQSDRGEGVEVVQNEPFEDPHHGNGQFTEK
RVYLNSKLPSWARAVVPKIFYVTEKAWNYYPYTITEYTCSFLPKFSIHIETKYEDNKGSN
DTIFDNEAKDVEREVCFIDIACDEIPERYYKESEDPKHFKSEKTGRGQLREGWRDSHQPI
MCSYKLVTVKFEVWGLQTRVEQFVHKVVRDILLIGHRQAFAWVDEWYDMTMDEVREFERA
TQEATNKKIGIFPPAISISSIPLLPSSVRSAPSSAPSTPLSTDAPEFLSVPKDRPRKKSA
PETLTLPDPEKKATLNLPGMHSSDKPCRPKSE

Sequence length

332

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Duodenal Ulcer	Duodenal ulcer	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anophthalmia with pulmonary hypoplasia	Stimulate	37210549
Diabetes Mellitus Type 2	Associate	22865700
Lung Neoplasms	Associate	37210549
Neoplasm Metastasis	Stimulate	37210549
Neoplasms	Associate	37210549
Obesity	Associate	35292404
Pancreatic Neoplasms	Associate	26617894
Pulmonary Arterial Hypertension	Associate	39324181

PITPNC1 (phosphatidylinositol transfer protein cytoplasmic 1)