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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9600
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatidylinositol transfer protein membrane associated 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PITPNM1
Synonyms (NCBI Gene) Gene synonyms aliases	DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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]

Show/Hide all(37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046879	hsa-miR-221-3p	CLASH	23622248
MIRT439967	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439967	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT735833	hsa-miR-490-5p	Luciferase reporter assay, Western blotting, Microarray	33240879
MIRT1236722	hsa-miR-1246	CLIP-seq
MIRT1236723	hsa-miR-1290	CLIP-seq
MIRT1236724	hsa-miR-151-5p	CLIP-seq
MIRT1236725	hsa-miR-151b	CLIP-seq
MIRT1236726	hsa-miR-3151	CLIP-seq
MIRT1236727	hsa-miR-3167	CLIP-seq
MIRT1236728	hsa-miR-329	CLIP-seq
MIRT1236729	hsa-miR-3591-3p	CLIP-seq
MIRT1236730	hsa-miR-362-3p	CLIP-seq
MIRT1236731	hsa-miR-3941	CLIP-seq
MIRT1236732	hsa-miR-4283	CLIP-seq
MIRT1236733	hsa-miR-4447	CLIP-seq
MIRT1236734	hsa-miR-4455	CLIP-seq
MIRT1236735	hsa-miR-4472	CLIP-seq
MIRT1236736	hsa-miR-4489	CLIP-seq
MIRT1236737	hsa-miR-4492	CLIP-seq
MIRT1236738	hsa-miR-4498	CLIP-seq
MIRT1236739	hsa-miR-4505	CLIP-seq
MIRT1236740	hsa-miR-4731-5p	CLIP-seq
MIRT1236741	hsa-miR-4789-5p	CLIP-seq
MIRT1236742	hsa-miR-488	CLIP-seq
MIRT1236743	hsa-miR-491-5p	CLIP-seq
MIRT1236744	hsa-miR-603	CLIP-seq
MIRT1236745	hsa-miR-637	CLIP-seq
MIRT1236746	hsa-miR-762	CLIP-seq
MIRT1236747	hsa-miR-802	CLIP-seq
MIRT1236748	hsa-miR-876-5p	CLIP-seq
MIRT2296954	hsa-miR-188-3p	CLIP-seq
MIRT2296955	hsa-miR-2355-5p	CLIP-seq
MIRT2296956	hsa-miR-532-3p	CLIP-seq
MIRT1236729	hsa-miR-3591-3p	CLIP-seq
MIRT1236742	hsa-miR-488	CLIP-seq
MIRT1236747	hsa-miR-802	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IDA	10022914
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	NAS	9680295
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007420	Process	Brain development	TAS	9245688
GO:0007602	Process	Phototransduction	TAS	9680295
GO:0008525	Function	Phosphatidylcholine transporter activity	IBA	21873635
GO:0008526	Function	Phosphatidylinositol transfer activity	IBA	21873635
GO:0008526	Function	Phosphatidylinositol transfer activity	IDA	10531358, 22822086
GO:0015031	Process	Protein transport	IEA
GO:0015914	Process	Phospholipid transport	IDA	22822086
GO:0016020	Component	Membrane	TAS	9245688
GO:0030496	Component	Midbody	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IMP	10022914
GO:0031210	Function	Phosphatidylcholine binding	IBA	21873635
GO:0031210	Function	Phosphatidylcholine binding	IDA	22822086
GO:0032154	Component	Cleavage furrow	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA	21873635
GO:0035091	Function	Phosphatidylinositol binding	IDA	22822086
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0044297	Component	Cell body	ISS
GO:0070300	Function	Phosphatidic acid binding	IDA	22822086
GO:0120009	Process	Intermembrane lipid transfer	IEA

MIM	HGNC	e!Ensembl
608794	9003	ENSG00000110697

Protein

UniProt ID

O00562

Protein name

Membrane-associated phosphatidylinositol transfer protein 1 (Drosophila retinal degeneration B homolog) (Phosphatidylinositol transfer protein, membrane-associated 1) (PITPnm 1) (Pyk2 N-terminal domain-interacting receptor 2) (NIR-2)

Protein function

Catalyzes the transfer of phosphatidylinositol (PI) between membranes (PubMed:10531358, PubMed:22822086). Binds PI, phosphatidylcholine (PC) and phosphatidic acid (PA) with the binding affinity order of PI > PA > PC (PubMed:22822086). Regulates

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02121	IP_trans	1 → 250	Phosphatidylinositol transfer protein	Family
PF02862	DDHD	686 → 824	DDHD domain	Family
PF02862	DDHD	800 → 879	DDHD domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10022914}.

Sequence

MLIKEYHILLPMSLDEYQVAQLYMIQKKSREESSGEGSGVEILANRPYTDGPGGSGQYTH
KVYHVGSHIPGWFRALLPKAALQVEEESWNAYPYTRTRYTCPFVEKFSIEIETYYLPDGG
QQPNVFNLSGAERRQRILDTIDIVRDAVAPGEYKAEEDPRLYHSVKTGRGPLSDDWARTA
AQTGPLMCAYKLCKVEFRYWGMQAKIEQFIHDVGLRRVMLRAHRQAWCWQDEWTELSMAD
IRALEEETARMLAQRMAKCNTGSEGSEAQPPGKPSTEARSAASNTGTPDGPEAPPGPDAS
PDASFGKQWSSSSRSSYSSQHGGAVSPQSLSEWRMQNIARDSENSSEEEFFDAHEGFSDS
EEVFPKEMTKWNSNDFIDAFASPVEAEGTPEPGAEAAKGIEDGAQAPRDSEGLDGAGELG
AEACAVHALFLILHSGNILDSGPGDANSKQADVQTLSSAFEAVTRIHFPEALGHVALRLV
PCPPICAAAYALVSNLSPYSHDGDSLSRSQDHIPLAALPLLATSSSRYQGAVATVIARTN
QAYSAFLRSPEGAGFCGQVALIGDGVGGILGFDALCHSANAGTGSRGSSRRGSMNNELLS
PEFGPVRDPLADGVEGLGRGSPEPSALPPQRIPSDMASPEPEGSQNSLQAAPATTSSWEP
RRASTAFCPPAASSEAPDGPSSTARLDFKVSGFFLFGSPLGLVLALRKTVMPALEAAQMR
PACEQIYNLFHAADPCASRLEPLLAPKFQAIAPLTVPRYQKFPLGDGSSLLLADTLQTHS
SLFLEELEMLVPSTPTSTSGAFWKGSELATDPPAQPAAPSTTSEVVKILERWWGTKRIDY
SLYCPEALTAFPTVTLPHLFHASYWESADVVAFILRQVIEKERPQLAECEEPSIYSPAFP
REKWQRKRTQVKIRNVTSNHRASDTVVCEGRPQVLSGRFMYGPLDVVTLTGEKVDVYIMT
QPLSGKWIHFGTEVTNSSGRLTFPVPPERALGIGVYPVRMVVRGDHTYAECCLTVVARGT
EAVVFSIDGSFTASVSIMGSDPKVRAGAVDVVRHWQDSGYLIVYVTGRPDMQKHRVVAWL
SQHNFPHGVVSFCDGLTHDPLRQKAMFLQSLVQEVELNIVAGYGSPKDVAVYAALGLSPS
QTYIVGRAVRKLQAQCQFLSDGYVAHLGQLEAGSHSHASSGPPRAALGKSSYGVAAPVDF
LRKQSQLLRSRGPSQAEREGPGTPPTTLARGKARSISLKLDSEE

Sequence length

1244

Interactions

View interactions

	Reactome
			Synthesis of PI

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	21822266

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	34572478
Carcinogenesis	Associate	34572478
Colorectal Neoplasms	Associate	27309477
Retinal Degeneration	Associate	12225667

PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)