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

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, Nov 2024]
Expression: Broad expression in brain (RPKM 22.8), thyroid (RPKM 15.1) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen.
Title: LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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
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