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    LARP6 La ribonucleoprotein 6, translational regulator [ Homo sapiens (human) ]

    Gene ID: 55323, updated on 28-Oct-2024

    Summary

    Official Symbol
    LARP6provided by HGNC
    Official Full Name
    La ribonucleoprotein 6, translational regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:24012
    See related
    Ensembl:ENSG00000166173 MIM:611300; AllianceGenome:HGNC:24012
    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
    ACHN
    Summary
    Enables RNA binding activity and myosin binding activity. Involved in positive regulation of collagen biosynthetic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 22.8), thyroid (RPKM 15.1) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LARP6 in Genome Data Viewer
    Location:
    15q23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (70829130..70854157, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (68652085..68677121, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (71121469..71146496, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uveal autoantigen with coiled-coil domains and ankyrin repeats Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71002570-71003070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:71005595-71006134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71010983-71011484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6609 Neighboring gene ribosomal protein L29 pseudogene 30 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71145885-71146386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71163033-71163588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71163589-71164146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9701 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:71170236-71170412 Neighboring gene leucine rich repeat containing 49 Neighboring gene keratin 8 pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71184427-71185125 Neighboring gene THAP domain containing 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11196

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA stem-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA stem-loop binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables mRNA 5'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 5'-UTR binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables myosin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    la-related protein 6
    Names
    La ribonucleoprotein domain family member 6
    acheron
    death-associated LA motif protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001286679.2NP_001273608.1  la-related protein 6 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks part of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009269, AC090868, AI376944, AL833876, DA715263
      UniProtKB/Swiss-Prot
      Q9BRS8
      Conserved Domains (2) summary
      cd12289
      Location:1108
      RRM_LARP6; RNA recognition motif in La-related protein 6 (LARP6) and similar proteins
      pfam12901
      Location:284298
      SUZ-C; SUZ-C motif
    2. NM_018357.4NP_060827.2  la-related protein 6 isoform 1

      See identical proteins and their annotated locations for NP_060827.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC009269, AI376944, AL833876, DN992782
      Consensus CDS
      CCDS32281.1
      UniProtKB/Swiss-Prot
      Q5XKE4, Q8N3N2, Q9BRS8, Q9NUR0
      Related
      ENSP00000299213.7, ENST00000299213.10
      Conserved Domains (3) summary
      cd08033
      Location:93169
      LARP_6; La RNA-binding domain of La-related protein 6
      pfam12901
      Location:452484
      SUZ-C; SUZ-C motif
      cd12289
      Location:184292
      RRM_LARP6; RNA recognition motif (RRM) found in La-related protein 6 (LARP6) and similar proteins
    3. NM_197958.3NP_932062.1  la-related protein 6 isoform 2

      See identical proteins and their annotated locations for NP_932062.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC039153, DN992782
      Consensus CDS
      CCDS10236.1
      UniProtKB/Swiss-Prot
      Q9BRS8
      Related
      ENSP00000343869.3, ENST00000344870.4

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      70829130..70854157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      68652085..68677121 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)