• Gene id: 151056

Gene Summary

• Gene Symbol: PLB1   Gene   UCSC   Ensembl
• Aliases: PLB, PLB/LIP
• Gene name: phospholipase B1
• Alternate names: phospholipase B1, membrane-associated, lysophospholipase, phospholipase A2, phospholipase B/lipase,
• Gene location: 2p23.2 (28488577: 28644141)     Exons: 69     NC_000002.12
• Gene summary(Entrez): This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activit
• OMIM: 614552

SNPs

rs13017562

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.28492063G>A
NC_000002.12   g.28492063G>C
NC_000002.11   g.28714930G>A
NC_000002.11   g.28714930G>C
NG_051297.1   g.8485G>A
NG_051297.1   g.8485G>C|SEQ=[G/A/C]|GENE=PLB1

Protein Summary

• Protein general information: Q6P1J6  
  • Name: Phospholipase B1, membrane associated (Phospholipase B) (hPLB) (Phospholipase B/lipase) (PLB/LIP) [Includes: Phospholipase A2 (EC 3.1.1.4); Lysophospholipase (EC 3.1.1.5)]
  • Length: 1458  
  • Mass: 163081
  • Tissue specificity: Expressed in the epidermis (at protein level). {ECO
• Sequence:

  MGLRPGIFLLELLLLLGQGTPQIHTSPRKSTLEGQLWPETLKNSPFPCNPNKLGVNMPSKSVHSLKPSDIKFVAA
  IGNLEIPPDPGTGDLEKQDWTERPQQVCMGVMTVLSDIIRYFSPSVPMPVCHTGKRVIPHDGAEDLWIQAQELVR
  NMKENLQLDFQFDWKLINVFFSNASQCYLCPSAQQNGLAAGGVDELMGVLDYLQQEVPRAFVNLVDLSEVAEVSR
  QYHGTWLSPAPEPCNCSEETTRLAKVVMQWSYQEAWNSLLASSRYSEQESFTVVFQPFFYETTPSLHSEDPRLQD
  STTLAWHLWNRMMEPAGEKDEPLSVKHGRPMKCPSQESPYLFSYRNSNYLTRLQKPQDKLEVREGAEIRCPDKDP
  SDTVPTSVHRLKPADINVIGALGDSLTAGNGAGSTPGNVLDVLTQYRGLSWSVGGDENIGTVTTLANILREFNPS
  LKGFSVGTGKETSPNAFLNQAVAGGRAEDLPVQARRLVDLMKNDTRIHFQEDWKIITLFIGGNDLCDFCNDLVHY
  SPQNFTDNIGKALDILHAEVPRAFVNLVTVLEIVNLRELYQEKKVYCPRMILRSLCPCVLKFDDNSTELATLIEF
  NKKFQEKTHQLIESGRYDTREDFTVVVQPFFENVDMPKTSEGLPDNSFFAPDCFHFSSKSHSRAASALWNNMLEP
  VGQKTTRHKFENKINITCPNQVQPFLRTYKNSMQGHGTWLPCRDRAPSALHPTSVHALRPADIQVVAALGDSLTA
  GNGIGSKPDDLPDVTTQYRGLSYSAGGDGSLENVTTLPNILREFNRNLTGYAVGTGDANDTNAFLNQAVPGAKAE
  DLMSQVQTLMQKMKDDHRVNFHEDWKVITVLIGGSDLCDYCTDSNLYSAANFVHHLRNALDVLHREVPRVLVNLV
  DFLNPTIMRQVFLGNPDKCPVQQASVLCNCVLTLRENSQELARLEAFSRAYRSSMRELVGSGRYDTQEDFSVVLQ
  PFFQNIQLPVLADGLPDTSFFAPDCIHPNQKFHSQLARALWTNMLEPLGSKTETLDLRAEMPITCPTQNEPFLRT
  PRNSNYTYPIKPAIENWGSDFLCTEWKASNSVPTSVHQLRPADIKVVAALGDSLTTAVGARPNNSSDLPTSWRGL
  SWSIGGDGNLETHTTLPNILKKFNPYLLGFSTSTWEGTAGLNVAAEGARARDMPAQAWDLVERMKNSPDINLEKD
  WKLVTLFIGVNDLCHYCENPEAHLATEYVQHIQQALDILSEELPRAFVNVVEVMELASLYQGQGGKCAMLAAQNN
  CTCLRHSQSSLEKQELKKVNWNLQHGISSFSYWHQYTQREDFAVVVQPFFQNTLTPLNERGDTDLTFFSEDCFHF
  SDRGHAEMAIALWNNMLEPVGRKTTSNNFTHSRAKLKCPSPESPYLYTLRNSRLLPDQAEEAPEVLYWAVPVAAG
  VGLVVGIIGTVVWRCRRGGRREDPPMSLRTVAL

• Structural information:
  • Interpro: IPR001087  IPR008265  IPR035547  IPR038885  IPR036514  
  • Prosite: PS01098
  • CDD: cd01824
  • STRING: ENSP00000330442
• Other Databases: GeneCards:  PLB1  Malacards:  PLB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050253	retinyl-palmitate esterase activity	IBA	molecular function
GO:0006644	phospholipid metabolic process	IBA	biological process
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0004620	phospholipase activity	IBA	molecular function
GO:0031526	brush border membrane	IBA	cellular component
GO:0004623	phospholipase A2 activity	IBA	molecular function
GO:0004620	phospholipase activity	IEA	molecular function
GO:0016298	lipase activity	IEA	molecular function
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016042	lipid catabolic 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:0102567	phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine)	IEA	molecular function
GO:0004623	phospholipase A2 activity	IEA	molecular function
GO:0102568	phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0036151	phosphatidylcholine acyl-chain remodeling	TAS	biological process
GO:0050253	retinyl-palmitate esterase activity	TAS	molecular function
GO:2000344	positive regulation of acrosome reaction	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism
hsa00590	Arachidonic acid metabolism
hsa00565	Ether lipid metabolism
hsa04977	Vitamin digestion and absorption
hsa00591	Linoleic acid metabolism
hsa00592	alpha-Linolenic acid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq