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

    Gene ID: 100507055, updated on 10-Dec-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 digestion and lipid catabolic process. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver (RPKM 1.8), lung (RPKM 0.7) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRCOL1 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132603151..132610582, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132653401..132660802, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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_2024_08

    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

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