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LRCOL1 leucine rich colipase like 1 [ Homo sapiens (human) ]

Gene ID: 100507055, updated on 8-Mar-2024

Summary

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Official Symbol
LRCOL1provided by HGNC
Official Full Name
leucine rich colipase like 1provided by HGNC
Primary source
HGNC:HGNC:44160
See related
Ensembl:ENSG00000204583 AllianceGenome:HGNC:44160
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
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
Biased expression in liver (RPKM 1.8), lung (RPKM 0.7) and 10 other tissues See more
Orthologs
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Genomic context

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Location:
12q24.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132603151..132610582, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132653401..132660802, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133179737..133187168, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7385 Neighboring gene uncharacterized LOC105370094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133177517-133178052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133178053-133178587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:133180217-133180843 Neighboring gene purinergic receptor P2X 2 Neighboring gene DNA polymerase epsilon, catalytic subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5123

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. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
  2. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
  3. 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
  4. 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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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

General gene information

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Markers

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
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leucine-rich colipase-like protein 1

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_001195520.2 → NP_001182449.1  leucine-rich colipase-like protein 1 precursor

    See identical proteins and their annotated locations for NP_001182449.1

    Status: VALIDATED

    Source sequence(s)
    AC131212, AV653338, BX282338, DB344052
    Consensus CDS
    CCDS73547.1
    UniProtKB/Swiss-Prot
    A6NCL2, H9BFB1
    Related
    ENSP00000479730.1, ENST00000376608.9
    Conserved Domains (1) summary
    pfam15083
    Location:66 → 153
    Colipase-like; Colipase-like

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    132603151..132610582 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534780.3 → XP_011533082.1  leucine-rich colipase-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011533082.1

    Conserved Domains (1) summary
    pfam15083
    Location:66 → 153
    Colipase-like; Colipase-like

  2. XM_047428045.1 → XP_047284001.1  leucine-rich colipase-like protein 1 isoform X2

  3. XM_011534784.2 → XP_011533086.1  leucine-rich colipase-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011533086.1

    Conserved Domains (1) summary
    pfam15083
    Location:25 → 101
    Colipase-like

  4. XM_011534785.2 → XP_011533087.1  leucine-rich colipase-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011533087.1

    Conserved Domains (1) summary
    pfam15083
    Location:25 → 101
    Colipase-like

  5. XM_047428046.1 → XP_047284002.1  leucine-rich colipase-like protein 1 isoform X3

  6. XM_047428044.1 → XP_047284000.1  leucine-rich colipase-like protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    132653401..132660802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370709.1 → XP_054226684.1  leucine-rich colipase-like protein 1 isoform X1

  2. XM_054370711.1 → XP_054226686.1  leucine-rich colipase-like protein 1 isoform X2

  3. XM_054370713.1 → XP_054226688.1  leucine-rich colipase-like protein 1 isoform X2

  4. XM_054370712.1 → XP_054226687.1  leucine-rich colipase-like protein 1 isoform X2

  5. XM_054370714.1 → XP_054226689.1  leucine-rich colipase-like protein 1 isoform X3

  6. XM_054370710.1 → XP_054226685.1  leucine-rich colipase-like protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NCL2.3 GenPept UniProtKB/Swiss-Prot:A6NCL2

Gene LinkOut

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