• Gene id: 9600

Gene Summary

• Gene Symbol: PITPNM1   Gene   UCSC   Ensembl
• Aliases: DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9
• Gene name: phosphatidylinositol transfer protein membrane associated 1
• Alternate names: membrane-associated phosphatidylinositol transfer protein 1, NIR-2, PITPnm 1, PYK2 N-terminal domain-interacting receptor 2, drosophila retinal degeneration B homolog, retinal degeneration B alpha 1,
• Gene location: 11q13.2 (67505371: 67491759)     Exons: 25     NC_000011.10
• Gene summary(Entrez): 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]
• OMIM: 608794

Protein Summary

• Protein general information: O00562  
  • 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)
  • Length: 1244  
  • Mass: 134848
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MLIKEYHILLPMSLDEYQVAQLYMIQKKSREESSGEGSGVEILANRPYTDGPGGSGQYTHKVYHVGSHIPGWFRA
  LLPKAALQVEEESWNAYPYTRTRYTCPFVEKFSIEIETYYLPDGGQQPNVFNLSGAERRQRILDTIDIVRDAVAP
  GEYKAEEDPRLYHSVKTGRGPLSDDWARTAAQTGPLMCAYKLCKVEFRYWGMQAKIEQFIHDVGLRRVMLRAHRQ
  AWCWQDEWTELSMADIRALEEETARMLAQRMAKCNTGSEGSEAQPPGKPSTEARSAASNTGTPDGPEAPPGPDAS
  PDASFGKQWSSSSRSSYSSQHGGAVSPQSLSEWRMQNIARDSENSSEEEFFDAHEGFSDSEEVFPKEMTKWNSND
  FIDAFASPVEAEGTPEPGAEAAKGIEDGAQAPRDSEGLDGAGELGAEACAVHALFLILHSGNILDSGPGDANSKQ
  ADVQTLSSAFEAVTRIHFPEALGHVALRLVPCPPICAAAYALVSNLSPYSHDGDSLSRSQDHIPLAALPLLATSS
  SRYQGAVATVIARTNQAYSAFLRSPEGAGFCGQVALIGDGVGGILGFDALCHSANAGTGSRGSSRRGSMNNELLS
  PEFGPVRDPLADGVEGLGRGSPEPSALPPQRIPSDMASPEPEGSQNSLQAAPATTSSWEPRRASTAFCPPAASSE
  APDGPSSTARLDFKVSGFFLFGSPLGLVLALRKTVMPALEAAQMRPACEQIYNLFHAADPCASRLEPLLAPKFQA
  IAPLTVPRYQKFPLGDGSSLLLADTLQTHSSLFLEELEMLVPSTPTSTSGAFWKGSELATDPPAQPAAPSTTSEV
  VKILERWWGTKRIDYSLYCPEALTAFPTVTLPHLFHASYWESADVVAFILRQVIEKERPQLAECEEPSIYSPAFP
  REKWQRKRTQVKIRNVTSNHRASDTVVCEGRPQVLSGRFMYGPLDVVTLTGEKVDVYIMTQPLSGKWIHFGTEVT
  NSSGRLTFPVPPERALGIGVYPVRMVVRGDHTYAECCLTVVARGTEAVVFSIDGSFTASVSIMGSDPKVRAGAVD
  VVRHWQDSGYLIVYVTGRPDMQKHRVVAWLSQHNFPHGVVSFCDGLTHDPLRQKAMFLQSLVQEVELNIVAGYGS
  PKDVAVYAALGLSPSQTYIVGRAVRKLQAQCQFLSDGYVAHLGQLEAGSHSHASSGPPRAALGKSSYGVAAPVDF
  LRKQSQLLRSRGPSQAEREGPGTPPTTLARGKARSISLKLDSEE

• Structural information:
  • Protein Domains: (686..88-)
    (/note="DDHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00378"-)
  • Interpro: IPR004177  IPR036412  IPR031315  IPR001666  IPR023393  
  • Prosite: PS51043
  • STRING: ENSP00000348772
• Other Databases: GeneCards:  PITPNM1  Malacards:  PITPNM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0008526	phosphatidylinositol transfer activity	IBA	molecular function
GO:0008525	phosphatidylcholine transporter activity	IBA	molecular function
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005548	phospholipid transporter activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0008526	phosphatidylinositol transfer activity	TAS	molecular function
GO:0006629	lipid metabolic process	NAS	biological process
GO:0007420	brain development	TAS	biological process
GO:0007602	phototransduction	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0044297	cell body	IEA	cellular component
GO:0031210	phosphatidylcholine binding	IDA	molecular function
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0015914	phospholipid transport	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0030971	receptor tyrosine kinase binding	IMP	molecular function
GO:0044297	cell body	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq