CLPSL1: Colipase-Like 1 – A Pseudogene with Potential Regulatory Roles

Explore the genomic context, expression patterns, and clinical significance of CLPSL1, a colipase-like pseudogene on chromosome 6.

Gene Information Card

Symbol CLPSL1
Full Name colipase-like 1
Gene Type pseudogene
Chromosomal Location 6p21.1
NCBI Gene ID 340596 ncbi.nlm.nih.gov/gene/340596
Ensembl ID ENSG00000204356
UniProt ID None (pseudogene)
OMIM ID None
HGNC ID 28035
Aliases CLPSL, dJ402H5.2

Description

CLPSL1 (colipase-like 1) is a pseudogene located on chromosome 6 at position p21.1. It is part of the colipase gene family, which includes the functional CLPS gene. As a pseudogene, CLPSL1 has lost its protein-coding capacity due to the presence of premature stop codons or frameshift mutations. However, it may still be transcribed into RNA and could play regulatory roles, such as acting as a microRNA sponge or a source of small interfering RNAs. The genomic region of CLPSL1 is within the major histocompatibility complex (MHC) class III region, which is associated with immune function and various diseases. Despite being a pseudogene, CLPSL1 expression has been detected in certain tissues, suggesting potential functional relevance.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No direct disease association As a pseudogene, CLPSL1 is not known to encode a functional protein. However, its genomic location in the MHC region may link it to immune-related disorders, but no direct evidence exists. No direct evidence from ClinVar or OMIM.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 0.0 Not expressed
Kidney 0.0 Not expressed
Liver 0.0 Not expressed
Brain 0.0 Not expressed
Cell Line Expression
Cell Line nTPM Notes
HeLa 0.0 No expression detected
A549 0.0 No expression detected
MCF7 0.0 No expression detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No reported variants N/A N/A N/A
Mutation functional classification

Loss of Function (LOF)

Not applicable – pseudogene with no protein product.

Gain of Function (GOF)

Not applicable – pseudogene with no protein product.

Dominant Negative (DN)

Not applicable – pseudogene with no protein product.

Protein Summary

CLPSL1 is a pseudogene and does not produce a functional protein. It is a non-coding RNA locus that may have regulatory functions, but no protein product has been identified. The gene is located in a gene-dense region on chromosome 6, and its transcription may be incidental or regulatory.

Related Products

Product name Cat.No. Species Gene ID
CLPSL1 Knockout HEK293 Cell Line EDJ-KQ12950 Human 340204 Details Get a Quote
CLPSL1 Knockout HeLa Cell Line EDJ-KQ59670 Human 340204 Details Get a Quote
CLPSL1 Knockout A-549 Cell Line EDJ-KQ68142 Human 340204 Details Get a Quote
CLPSL1 Knockout HCT 116 Cell Line EDJ-KQ76519 Human 340204 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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