CLPS colipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLPSprovided by HGNC
Official Full Name: colipaseprovided by HGNC
Primary source: HGNC:HGNC:2085
See related: Ensembl:ENSG00000137392 MIM:120105; AllianceGenome:HGNC:2085
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
Summary: The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Restricted expression toward pancreas (RPKM 17741.6) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (35794982..35797323, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (35615336..35617677, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (35762759..35765100, complement)

Chromosome 6 - NC_000006.12 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 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?

Low CLPS expression is associated with pancreatic cancer.
Title: Integration of metabolomics and transcriptomics revealed a fatty acid network exerting growth inhibitory effects in human pancreatic cancer.
humans with the Arg92Cys substitution will secrete less functional colipase
Title: The Arg92Cys colipase polymorphism impairs function and secretion by increasing protein misfolding.
found no evidence for an association of pancreatic colipase(CLPS) single nucleotide polymorphisms rs2766597, rs41270082, rs3748050, and rs3748051 with obesity or percentage of dietary fat intake
Title: Procolipase gene: no association with early-onset obesity or fat intake.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Procolipase gene: no association with early-onset obesity or fat intake.
CLPS genetic variability associates with insulin secretory function in non-diabetic humans and may represent a novel candidate gene for development of type 2 diabetes
Title: Genetic variability of procolipase associates with altered insulin secretion in non-diabetic Caucasians.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variability of procolipase associates with altered insulin secretion in non-diabetic Caucasians.
Our findings demonstrate that the Arg92Cys polymorphism decreases the function of Cys92 colipase. This change may contribute to the development of type 2 diabetes.
Title: A polymorphism in the gene encoding procolipase produces a colipase, Arg92Cys, with decreased function against long-chain triglycerides.
evidence in two German Caucasian study populations that the variant of the rare colipase Arg109Cys polymorphism might contribute to increased susceptibility of type 2 diabetes
Title: Putative association between a new polymorphism in exon 3 (Arg109Cys) of the pancreatic colipase gene and type 2 diabetes mellitus in two independent Caucasian study populations.

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Phenotypes

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
nucleocapsid	gag	HIV-1 NC upregulates pancreatic colipase in HEK 293T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S2128 (e-PCR)
- UniSTS:41237

D6S2063 (e-PCR)
- UniSTS:9000

RH46790 (e-PCR)
- UniSTS:38953

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme activator activity	IEA Inferred from Electronic Annotation more info
enables lipase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in digestion	IEA Inferred from Electronic Annotation more info
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in response to food	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: colipase

Names: colipase, pancreatic; pancreatic colipase preproprotein

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_001252597.2 → NP_001239526.1 colipase isoform 2

See identical proteins and their annotated locations for NP_001239526.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. Translation of variant 2 begins in the alternate exon, and the resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

BI439786, BP322637, BP324927, BQ271978

Consensus CDS

CCDS75437.1

UniProtKB/TrEMBL

A0A087WZW1

Related

ENSP00000482919.1, ENST00000622413.2

Conserved Domains (1) summary

smart00023
Location:15 → 98

COLIPASE; Colipase
NM_001252598.2 → NP_001239527.1 colipase isoform 3 preproprotein

See identical proteins and their annotated locations for NP_001239527.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BP321569, BP324927

Consensus CDS

CCDS75438.1

UniProtKB/TrEMBL

A0A087X0Q7, Q5U808

Related

ENSP00000483589.1, ENST00000616014.3

Conserved Domains (1) summary

smart00023
Location:18 → 71

COLIPASE; Colipase
NM_001832.4 → NP_001823.1 colipase isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001823.1

Status: REVIEWED

Description

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

Source sequence(s)

BP324927

Consensus CDS

CCDS4811.1

UniProtKB/Swiss-Prot

P04118, Q5T9G7, Q5U809

Related

ENSP00000259938.2, ENST00000259938.7

Conserved Domains (1) summary

smart00023
Location:18 → 112

COLIPASE; Colipase