• Gene id: 83394

Gene Summary

• Gene Symbol: PITPNM3   Gene   UCSC   Ensembl
• Aliases: ACKR6, CORD5, NIR1, RDGBA3
• Gene name: PITPNM family member 3
• Alternate names: membrane-associated phosphatidylinositol transfer protein 3, NIR-1, PITPnm 3, PYK2 N-terminal domain-interacting receptor 1, atypical chemokine receptor 6, cone rod dystrophy 5, phosphatidylinositol transfer protein, membrane-associated 3, retinal degeneration B,
• Gene location: 17p13.2-p13.1 (140691443: 140699307)     Exons: 15     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also
• OMIM: 608921

Protein Summary

• Protein general information: Q9BZ71  
  • Name: Membrane associated phosphatidylinositol transfer protein 3 (Phosphatidylinositol transfer protein, membrane associated 3) (PITPnm 3) (Pyk2 N terminal domain interacting receptor 1) (NIR 1)
  • Length: 974  
  • Mass: 106781
  • Tissue specificity: Detected in brain and spleen, and at low levels in ovary. {ECO
• Sequence:

  MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSNDLVEQIETMGKLDEHQ
  GEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGCPQRSCKTHVLLLVLHGGNILDTGAGDPSCK
  AADIHTFSSVLEKVTRAHFPAALGHILIKFVPCPAICSEAFSLVSHLNPYSHDEGCLSSSQDHVPLAALPLLAIS
  SPQYQDAVATVIERANQVYREFLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSAGPSGDSPASSSRKGSISSTQ
  DTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDCEAITQHHAFLSSIHSSVLKDESETP
  AAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDGFQVRPACSQVYSFFHCADPSASRLEPLLEP
  KFHLVPPVSVPRYQRFPLGDGQSLLLADALHTHSPLFLEGSSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHS
  ESSESSDSMAPVGASRITAKWWGSKRIDYALYCPDVLTAFPTVALPHLFHASYWESTDVVAFILRQVMRYESVNI
  KESARLDPAALSPANPREKWLRKRTQVKLRNVTANHRANDVIAAEDGPQVLVGRFMYGPLDMVALTGEKVDILVM
  AEPSSGRWVHLDTEITNSSGRITYNVPRPRRLGVGVYPVKMVVRGDQTCAMSYLTVLPRGMECVVFSIDGSFAAS
  VSIMGSDPKVRPGAVDVVRHWQDLGYMILYITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLR
  NLMQECFIKISAAYGSTKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSR
  MILRKGSFGLHAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPALSWARGPPKFESVP

• Structural information:
  • Protein Domains: (390..59-)
    (/note="DDHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00378"-)
  • Interpro: IPR004177  IPR036412  IPR031315  
  • Prosite: PS51043
  • STRING: ENSP00000262483
• Other Databases: GeneCards:  PITPNM3  Malacards:  PITPNM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004620	phospholipase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	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:0042995	cell projection	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0030971	receptor tyrosine kinase binding	IMP	molecular function

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 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