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CLPSL1 colipase like 1 [ Homo sapiens (human) ]

Gene ID: 340204, updated on 5-Mar-2024

Summary

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Official Symbol
CLPSL1provided by HGNC
Official Full Name
colipase like 1provided by HGNC
Primary source
HGNC:HGNC:21251
See related
Ensembl:ENSG00000204140 AllianceGenome:HGNC:21251
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
ESP32; C6orf127; dJ510O8.6
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
Restricted expression toward pancreas (RPKM 4.4) See more
Orthologs
all
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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 (35781019..35794039)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35601370..35614393)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35748796..35761763)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5777 silencer Neighboring gene CMPK1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24413 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 colipase like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35749907-35750408 Neighboring gene colipase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17101 Neighboring gene LHFPL tetraspan subfamily member 5

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. Transcriptome analysis of a cDNA library from adult human epididymis. Li JY, et al. DNA Res, 2008 Jun 30. PMID 18390568, Free PMC Article
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

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
  
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 1
Names
colipase-like protein C6orf127

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_001010886.5 → NP_001010886.1  colipase-like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001010886.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BX106742, DQ823638, DV643925
    Consensus CDS
    CCDS43456.1
    UniProtKB/Swiss-Prot
    A2RUU4, A7E2T6, B2RPE2, B5G4V2, B6ZDM9, Q5T9G1
    Related
    ENSP00000362968.5, ENST00000373861.6
    Conserved Domains (1) summary
    cl24053
    Location:23 → 110
    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_001348773.2 → NP_001335702.1  colipase-like protein 1 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL157823
    Conserved Domains (1) summary
    cl24053
    Location:23 → 74
    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

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
    35781019..35794039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010821.2 → XP_016866310.1  colipase-like protein 1 isoform X2

  2. XM_017010820.2 → XP_016866309.1  colipase-like protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    35601370..35614393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355319.1 → XP_054211294.1  colipase-like protein 1 isoform X2

  2. XM_054355318.1 → XP_054211293.1  colipase-like protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2RUU4.1 GenPept UniProtKB/Swiss-Prot:A2RUU4

Gene LinkOut

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