PLB1 phospholipase B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLB1provided by HGNC
Official Full Name: phospholipase B1provided by HGNC
Primary source: HGNC:HGNC:30041
See related: Ensembl:ENSG00000163803 MIM:610179; AllianceGenome:HGNC:30041
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PLB; PLB/LIP
Summary: 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 activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
Expression: Biased expression in small intestine (RPKM 8.9), bone marrow (RPKM 1.8) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.2

Exon count:: 58

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (28496060..28644142)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (28539741..28687841)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (28718927..28867008)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

rs117512489 in gene phospholipase B1 gene is associated with Non-Small Cell Lung Cancer.
Title: Exome-Wide Association Study Identifies Low-Frequency Coding Variants in 2p23.2 and 7p11.2 Associated with Survival of Non-Small Cell Lung Cancer Patients.
PLB1 is a candidate risk gene for rheumatoid arthritis.
Title: Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.
identification of epidermis as a site of expression
Title: Human epidermis is a novel site of phospholipase B expression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-independent phospholipase A2 activity	IEA Inferred from Electronic Annotation more info
enables lysophospholipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidyl phospholipase B activity	IEA Inferred from Electronic Annotation more info
enables phospholipase A2 activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase A2 activity	TAS Traceable Author Statement more info
enables retinyl-palmitate esterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables retinyl-palmitate esterase activity	TAS Traceable Author Statement more info
enables triglyceride lipase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in diacylglycerol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylcholine acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in phosphatidylcholine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylethanolamine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylglycerol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in phospholipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of acrosome reaction	IEA Inferred from Electronic Annotation more info
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in brush border membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: phospholipase B1, membrane-associated

Names: lysophospholipase; phospholipase A2; phospholipase B/lipase; triacylglycerol lipase

NP_001164056.1

EC 3.1.1.3

EC 3.1.1.4

EC 3.1.1.5

NP_694566.4

EC 3.1.1.3

EC 3.1.1.4

EC 3.1.1.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051297.1 RefSeqGene

Range

12482..160564

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001170585.2 → NP_001164056.1 phospholipase B1, membrane-associated isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC074011, AC093164, BC150633, BC153864, BX109719

Consensus CDS

CCDS54340.1

UniProtKB/TrEMBL

H7BYX7

Related

ENSP00000416440.2, ENST00000422425.6

Conserved Domains (1) summary

cd01824
Location:1074 → 1360

Phospholipase_B_like; Phospholipase-B_like. This subgroup of the SGNH-family of lipolytic enzymes may have both esterase and phospholipase-A/lysophospholipase activity. It's members may be involved in the conversion of phosphatidylcholine to fatty acids and ...
NM_153021.5 → NP_694566.4 phospholipase B1, membrane-associated isoform 1 precursor

See identical proteins and their annotated locations for NP_694566.4

Status: REVIEWED

Source sequence(s)

AC074011, AC093164, BC150633, BC153864, BX109719

Consensus CDS

CCDS33168.1

UniProtKB/Swiss-Prot

A8KAX2, Q53S03, Q6P1J6, Q8IUP7, Q96DP9

UniProtKB/TrEMBL

B2RWP8

Related

ENSP00000330442.5, ENST00000327757.10

Conserved Domains (1) summary

cd01824
Location:382 → 677

Phospholipase_B_like; Phospholipase-B_like. This subgroup of the SGNH-family of lipolytic enzymes may have both esterase and phospholipase-A/lysophospholipase activity. It's members may be involved in the conversion of phosphatidylcholine to fatty acids and ...