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

Gene ID: 55323, updated on 11-Apr-2024

Summary

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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; positive regulation of mRNA binding activity; and positive regulation of translation. Located in nucleus. Part of polysome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 22.8), thyroid (RPKM 15.1) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
15q23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (70829130..70854157, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (68652085..68677121, complement)
105.20220307 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

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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. LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen. Chen L, et al. J Invest Dermatol, 2022 Sep. PMID 35176288
  2. Characterization of Sequence-Specific Binding of LARP6 to the 5' Stem-Loop of Type I Collagen mRNAs and Implications for Rational Design of Antifibrotic Drugs. Stefanovic L, et al. J Mol Biol, 2022 Jan 30. PMID 34896113, Free PMC Article
  3. mTORC1 phosphorylates LARP6 to stimulate type I collagen expression. Zhang Y, et al. Sci Rep, 2017 Jan 23. PMID 28112218, Free PMC Article
  4. Akt mediated phosphorylation of LARP6; critical step in biosynthesis of type I collagen. Zhang Y, et al. Sci Rep, 2016 Mar 2. PMID 26932461, Free PMC Article
  5. Synergic interplay of the La motif, RRM1 and the interdomain linker of LARP6 in the recognition of collagen mRNA expands the RNA binding repertoire of the La module. Martino L, et al. Nucleic Acids Res, 2015 Jan. PMID 25488812, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LARP6 suppresses colorectal cancer progression through ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis.
    Title: LARP6 suppresses colorectal cancer progression through ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis.
  2. LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen.
    Title: LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen.
  3. Characterization of Sequence-Specific Binding of LARP6 to the 5' Stem-Loop of Type I Collagen mRNAs and Implications for Rational Design of Antifibrotic Drugs.
    Title: Characterization of Sequence-Specific Binding of LARP6 to the 5' Stem-Loop of Type I Collagen mRNAs and Implications for Rational Design of Antifibrotic Drugs.
  4. Study shows that mTORC1 phosphorylates La ribonucleoprotein domain family, member 6 to stimulate type I collagen expression.
    Title: mTORC1 phosphorylates LARP6 to stimulate type I collagen expression.
  5. A cytoplasmic isoform of La protein as well as LARPs 6, 4, and 1 function in mRNA metabolism and translation in distinct but similar ways, sometimes with the poly(A)-binding protein, and in some cases by direct binding to poly(A)-RNA.
    Title: The La and related RNA-binding proteins (LARPs): structures, functions, and evolving perspectives.
  6. Akt mediated phosphorylation of LARP6; critical step in biosynthesis of type I collagen
    Title: Akt mediated phosphorylation of LARP6; critical step in biosynthesis of type I collagen.
  7. We postulate that collagen mRNAs directly partition to the endoplasmic reticulum membrane prior to synthesis of the signal peptide and that LARP6 and nonmuscle myosin filaments mediate this process.
    Title: Role of LARP6 and nonmuscle myosin in partitioning of collagen mRNAs to the ER membrane.
  8. Data indicate that LA motif protein LARP6 binding to spliced leader RNA (5'SL) of collagen alpha2(I) mRNA is more stable than the binding to 5'SL of alpha1(I) mRNA.
    Title: Characterization of binding of LARP6 to the 5' stem-loop of collagen mRNAs: implications for synthesis of type I collagen.
  9. The study presents the structure of the La motif and RRM1 of human LARP6 uncovering in both cases considerable structural variation in comparison to the equivalent domains in La and revealing an unprecedented fold for the RRM1.
    Title: Synergic interplay of the La motif, RRM1 and the interdomain linker of LARP6 in the recognition of collagen mRNA expands the RNA binding repertoire of the La module.
  10. LARP6 is a critical mediator by which IGF-1 augments synthesis of collagen type I in vascular smooth muscle
    Title: Insulin-like growth factor-1 increases synthesis of collagen type I via induction of the mRNA-binding protein LARP6 expression and binding to the 5' stem-loop of COL1a1 and COL1a2 mRNA.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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

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

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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Markers

Homology

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

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

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_001286679.2 → NP_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:1 → 108
    RRM_LARP6; RNA recognition motif in La-related protein 6 (LARP6) and similar proteins
    pfam12901
    Location:284 → 298
    SUZ-C; SUZ-C motif

  2. NM_018357.4 → NP_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:93 → 169
    LARP_6; La RNA-binding domain of La-related protein 6
    pfam12901
    Location:452 → 484
    SUZ-C; SUZ-C motif
    cd12289
    Location:184 → 292
    RRM_LARP6; RNA recognition motif (RRM) found in La-related protein 6 (LARP6) and similar proteins

  3. NM_197958.3 → NP_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_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRS8.1 GenPept UniProtKB/Swiss-Prot:Q9BRS8

Gene LinkOut

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