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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9600
Gene name	Phosphatidylinositol transfer protein membrane associated 1
Gene symbol	PITPNM1
Synonyms (NCBI Gene)	DRES9NIR2PITPNMRDGBRDGB1RDGBARDGBA1Rd9
Chromosome	11
Chromosome location	11q13.2
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]

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 assayWestern blottingMicroarray	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 (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IDA	10022914
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	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
GO:0008526	Function	Phosphatidylinositol transfer activity	IBA
GO:0008526	Function	Phosphatidylinositol transfer activity	IDA	10531358, 22822086
GO:0008526	Function	Phosphatidylinositol transfer activity	IEA
GO:0008526	Function	Phosphatidylinositol transfer activity	TAS	9245688
GO:0015031	Process	Protein transport	IEA
GO:0015914	Process	Phospholipid transport	IDA	22822086
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9245688
GO:0030496	Component	Midbody	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IMP	10022914
GO:0031210	Function	Phosphatidylcholine binding	IBA
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
GO:0035091	Function	Phosphatidylinositol binding	IDA	22822086
GO:0044297	Component	Cell body	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0070300	Function	Phosphatidic acid binding	IDA	22822086
GO:0120009	Process	Intermembrane lipid transfer	IEA

MIM	HGNC	e!Ensembl
608794	9003	ENSG00000110697

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30613279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25179602, 31777862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34572478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34572478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30239208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27309477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25179602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31588269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25179602, 29631166, 30188003, 30239208, 30613279, 30640481, 30670648, 30948060, 31034202, 31125518, 31279099, 31281539, 31320053, 31523869, 31651142, 31820854 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	12225667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)