PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)

Gene

• Entrez ID: 9600
• Gene name: Phosphatidylinositol transfer protein membrane associated 1
• Gene symbol: PITPNM1
• Synonyms: DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9
• 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]

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 608794
• HGNC: 9003
• e!Ensembl: 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

• 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

Pathways

Reactome:

Synthesis of PI

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21822266