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CLPSL2 colipase like 2 [ Homo sapiens (human) ]

Gene ID: 389383, updated on 5-Mar-2024

Summary

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Official Symbol
CLPSL2provided by HGNC
Official Full Name
colipase like 2provided by HGNC
Primary source
HGNC:HGNC:21250
See related
Ensembl:ENSG00000196748 AllianceGenome:HGNC:21250
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UNQ3045; AAAL3045; C6orf126; dJ510O8.5
Summary
Predicted to enable enzyme activator activity. Predicted to be involved in response to food. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
6p21.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35776598..35779552)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35596952..35599906)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35744375..35747329)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC285847 Neighboring gene Sharpr-MPRA regulatory region 7900 Neighboring gene armadillo repeat containing 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35705089-35705697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35705698-35706306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35706915-35707523 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35707524-35708131 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35715250-35715449 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:35723005-35723594 Neighboring gene MPRA-validated peak5777 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24413 Neighboring gene CMPK1 pseudogene 1 Neighboring gene MPRA-validated peak5778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35749907-35750408 Neighboring gene colipase like 1 Neighboring gene colipase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation. Kim SO, et al. Int J Mol Sci, 2021 Jul 15. PMID 34299191, Free PMC Article
  2. Signal peptide prediction based on analysis of experimentally verified cleavage sites. Zhang Z, et al. Protein Sci, 2004 Oct. PMID 15340161, Free PMC Article
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme activator activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 response to food IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
colipase-like protein 2
Names
colipase-like protein C6orf126

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)

  1. NM_001286550.2 → NP_001273479.1  colipase-like protein 2 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AL157823, AY358823, CD513822
    Consensus CDS
    CCDS69095.1
    UniProtKB/Swiss-Prot
    Q6UWE3
    Related
    ENSP00000353639.2, ENST00000360454.6
    Conserved Domains (1) summary
    cl24053
    Location:33 → 69
    COLIPASE; Colipase; a stoichiometric cofactor for pancreatic lipase, allowing the enzyme to anchor itself to the water-lipid interface and stabilizing the active enzyme conformation

  2. NM_207409.4 → NP_997292.2  colipase-like protein 2 isoform b precursor

    See identical proteins and their annotated locations for NP_997292.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AL157823, AW665167, CD513822
    Consensus CDS
    CCDS4810.2
    UniProtKB/Swiss-Prot
    B0QZ45, Q5T9G3, Q6UWE3
    Related
    ENSP00000385898.3, ENST00000403376.4
    Conserved Domains (1) summary
    cl29842
    Location:33 → 100
    COLIPASE; Colipase; a stoichiometric cofactor for pancreatic lipase, allowing the enzyme to anchor itself to the water-lipid interface and stabilizing the active enzyme conformation

RNA

  1. NR_104467.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL157823, CD513822
    Related
    ENST00000481904.5

  2. NR_104469.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' terminal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AA861820, AL157823, CD513822

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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    35776598..35779552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    35596952..35599906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UWE3.3 GenPept UniProtKB/Swiss-Prot:Q6UWE3

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