LIPF lipase F, gastric type [Homo sapiens (human)] - Gene

Summary

Official Symbol: LIPFprovided by HGNC
Official Full Name: lipase F, gastric typeprovided by HGNC
Primary source: HGNC:HGNC:6622
See related: Ensembl:ENSG00000182333 MIM:601980; AllianceGenome:HGNC:6622
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: GL; HGL; HLAL
Summary: This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Expression: Restricted expression toward stomach (RPKM 9296.8) See more
Orthologs: all
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Genomic context

Location:: 10q23.31

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (88664442..88678814)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (89548553..89562923)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (90424199..90438571)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

site-directed mutagenesis the role of three key residues (K4, E225, R229) involved in salt bridges stabilizing the lid domain that controls the access to the active site and is part of the interfacial recognition site. Their substitution has an impact on the pH-dependent activity of rHGL and its relative activities on medium and long chain triglycerides.
Title: Constitutive expression of human gastric lipase in Pichia pastoris and site-directed mutagenesis of key lid-stabilizing residues.
LIPFDGKA might serve as a potential possible biomarkers for diagnosis of gastric cancer, and their downregulation may bring new perspective into the investigation of gastric cancer prognosis
Title: Decreased LIPF expression is correlated with DGKA and predicts poor outcome of gastric cancer.
In patients with intrahepatic cholestasis of pregnancy, there was no elevation in LIPF mRNA in maternal circulation compared with controls.
Title: Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4 Genes Are Not Detectable in Circulating Maternal Plasma.
Recombinant human gastric lipase (hGL) was transiently expressed in Nicotiana benthamiana leaves using the CPMV-HT expression system.
Title: Expression of active recombinant human gastric lipase in Nicotiana benthamiana using the CPMV-HT transient expression system.
insights into the domain movements
Title: Molecular dynamics simulations of human and dog gastric lipases: insights into domain movements.
down-regulated KLF4, CHGA, GPX3, SST and LIPF, together with up-regulated SERPINH1, THY1 and INHBA is an 8-gene signature for gastric cancer
Title: An 8-gene signature, including methylated and down-regulated glutathione peroxidase 3, of gastric cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: A common haplotype in NAPEPLD is associated with severe obesity in a Norwegian population-based cohort (the HUNT study).
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genetic correlates of olanzapine-induced weight gain in schizophrenia subjects from north India: role of metabolic pathway genes.
identidfied the cap and the lid residues involved in the binding with the lipidic substrate
Title: Importance of the lid and cap domains for the catalytic activity of gastric lipases.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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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Markers

NoName (e-PCR)
- UniSTS:481589

NoName (e-PCR)
- UniSTS:486968

WI-16578 (e-PCR)
- UniSTS:1664

STS-X05997 (e-PCR)
- UniSTS:23168

D10S1411 (e-PCR)
- UniSTS:22972

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	NAS Non-traceable Author Statement more info	PubMed
enables malate dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triglyceride lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride lipase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in malate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gastric triacylglycerol lipase

Names: gastric lipase; lipase, gastric

NP_001185757.1

EC 3.1.1.3

NP_001185758.1

EC 3.1.1.3

NP_001185759.1

EC 3.1.1.3

NP_004181.1

EC 3.1.1.3

XP_011538613.1

EC 3.1.1.3

XP_054223025.1

EC 3.1.1.3

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.

mRNA and Protein(s)

NM_001198828.2 → NP_001185757.1 gastric triacylglycerol lipase isoform 3 precursor

See identical proteins and their annotated locations for NP_001185757.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.

Source sequence(s)

AK301310, BM797485

Consensus CDS

CCDS55719.1

UniProtKB/TrEMBL

Q53F21

Related

ENSP00000477140.1, ENST00000608620.5

Conserved Domains (2) summary

PLN02872
Location:4 → 357

PLN02872; triacylglycerol lipase

pfam04083
Location:35 → 82

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
NM_001198829.2 → NP_001185758.1 gastric triacylglycerol lipase isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK301320, BM797485, X05997

Consensus CDS

CCDS55718.1

UniProtKB/TrEMBL

Q53F21

Related

ENSP00000377900.3, ENST00000394375.7

Conserved Domains (3) summary

PLN02872
Location:14 → 400

PLN02872; triacylglycerol lipase

pfam04083
Location:45 → 107

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:88 → 211

Abhydrolase_5; Alpha/beta hydrolase family
NM_001198830.2 → NP_001185759.1 gastric triacylglycerol lipase isoform 4 precursor

See identical proteins and their annotated locations for NP_001185759.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (4) lacks an internal segment compared to isoform 1.

Source sequence(s)

AL833751, BP341513

Consensus CDS

CCDS65896.1

UniProtKB/TrEMBL

Q53F21

Related

ENSP00000348101.3, ENST00000355843.2

Conserved Domains (2) summary

PLN02872
Location:14 → 367

PLN02872; triacylglycerol lipase

pfam04083
Location:45 → 92

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
NM_004190.4 → NP_004181.1 gastric triacylglycerol lipase isoform 2 precursor

See identical proteins and their annotated locations for NP_004181.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

BM797485, BP341513, X05997

Consensus CDS

CCDS7389.1

UniProtKB/Swiss-Prot

B7Z723, F5H1P4, P07098, Q2M1P6, Q5VXI7, Q5VXI8, Q658L8

UniProtKB/TrEMBL

Q53F21

Related

ENSP00000238983.5, ENST00000238983.9

Conserved Domains (3) summary

PLN02872
Location:4 → 390

PLN02872; triacylglycerol lipase

pfam04083
Location:35 → 97

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:78 → 201

Abhydrolase_5; Alpha/beta hydrolase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

88664442..88678814

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540311.2 → XP_011538613.1 gastric triacylglycerol lipase isoform X1

See identical proteins and their annotated locations for XP_011538613.1

UniProtKB/Swiss-Prot

B7Z723, F5H1P4, P07098, Q2M1P6, Q5VXI7, Q5VXI8, Q658L8

UniProtKB/TrEMBL

Q53F21

Conserved Domains (3) summary

PLN02872
Location:4 → 390

PLN02872; triacylglycerol lipase

pfam04083
Location:35 → 97

Abhydro_lipase; Partial alpha/beta-hydrolase lipase region

pfam12695
Location:78 → 201

Abhydrolase_5; Alpha/beta hydrolase family