• Gene id: 10908

Gene Summary

• Gene Symbol: PNPLA6   Gene   UCSC   Ensembl
• Aliases: BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws
• Gene name: patatin like phospholipase domain containing 6
• Alternate names: patatin-like phospholipase domain-containing protein 6, neuropathy target esterase,
• Gene location: 19p13.2 (7534163: 7561766)     Exons: 37     NC_000019.10
• Gene summary(Entrez): This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the c
• OMIM: 603197

Protein Summary

• Protein general information: Q8IY17  
  • Name: Patatin like phospholipase domain containing protein 6 (EC 3.1.1.5) (Neuropathy target esterase)
  • Length: 1375  
  • Mass: 150954
  • Tissue specificity: Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain. {ECO
• Sequence:

  MEAPLQTGMMGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAVVVTAVL
  ILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKILR
  IQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRP
  GQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEA
  FSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKRMVSTSA
  TDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQGGPRSDFDMAYERGRISVSLQ
  EEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLN
  SRVLLHHAKAGTIIARQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQR
  DCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLR
  SVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKI
  LGNLQQLQGPFPAGSGLGVPPHSELTNPASNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARL
  GASALDSIQEFRLSGWLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRA
  LKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLT
  GNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPV
  LDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCD
  PKDGHLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQ
  SRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTDRRSTDL
  NESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGSPEGASPSTASE
  MEEEKSILRQRRCLPQEPPGSATDA

• Structural information:
  • Protein Domains: (981..114-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR018490  IPR000595  IPR001423  IPR002641   IPR014710  
  • Prosite: PS50042 PS51635 PS01237
  • CDD: cd00038
  • STRING: ENSP00000407509
• Other Databases: GeneCards:  PNPLA6  Malacards:  PNPLA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0046470	phosphatidylcholine metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0102545	phosphatidyl phospholipase B activity	IEA	molecular function
GO:0004622	lysophospholipase activity	EXP	molecular function
GO:0004622	lysophospholipase activity	EXP	molecular function
GO:0046475	glycerophospholipid catabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0004622	lysophospholipase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
PNPLA6-related disorders	KEGG:H01898
Laurence-Moon syndrome	KEGG:H02137
Boucher-Neuhauser syndrome	KEGG:H02140
Hereditary spastic paraplegia	KEGG:H00266
PNPLA6-related disorders	KEGG:H01898
Laurence-Moon syndrome	KEGG:H02137
Boucher-Neuhauser syndrome	KEGG:H02140
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray