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RPL7L1 ribosomal protein L7 like 1 [ Homo sapiens (human) ]

Gene ID: 285855, updated on 7-Apr-2024

Summary

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Official Symbol
RPL7L1provided by HGNC
Official Full Name
ribosomal protein L7 like 1provided by HGNC
Primary source
HGNC:HGNC:21370
See related
Ensembl:ENSG00000146223 MIM:617417; AllianceGenome:HGNC:21370
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
dJ475N16.4
Summary
Enables RNA binding activity. Predicted to be involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within blastocyst formation. Predicted to be located in nucleolus. Predicted to be part of cytosolic large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 20.6), brain (RPKM 19.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42879616..42889900)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42708334..42718617)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42847354..42857638)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene putative uncharacterized protein encoded by LINC00269 Neighboring gene BICRA like chromatin remodeling complex associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24570 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42750599-42751288 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42751289-42751978 Neighboring gene uncharacterized LOC401261 Neighboring gene MPRA-validated peak5810 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr6:42846366-42847323 and GRCh37_chr6:42847324-42848280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24576 Neighboring gene chromosome 6 open reading frame 226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17209 Neighboring gene pre T cell antigen receptor alpha

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. DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. Kellner M, et al. Exp Cell Res, 2015 May 15. PMID 25825154
  2. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. Guan W, et al. Circ Cardiovasc Genet, 2014 Jun. PMID 24823311, Free PMC Article
  3. Human Regulatory Protein Ki-1/57 Is a Target of SUMOylation and Affects PML Nuclear Body Formation. Saito Â, et al. J Proteome Res, 2017 Sep 1. PMID 28695742, Free PMC Article
  4. SHLD2/FAM35A co-operates with REV7 to coordinate DNA double-strand break repair pathway choice. Findlay S, et al. EMBO J, 2018 Sep 14. PMID 30154076, Free PMC Article
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article

See all (75) citations in PubMed

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

EBI GWAS Catalog

Description
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
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

  • MGC62004

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in blastocyst formation IEA
Inferred from Electronic Annotation
more info
  
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of cytosolic large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ribosomal protein uL30-like
Names
60S ribosomal protein L7-like 1
large ribosomal subunit protein uL30-like 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_001366481.3 → NP_001353410.1  ribosomal protein uL30-like

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript. Variants 1 and 4 both encode the same protein.
    Source sequence(s)
    AL035587
    Consensus CDS
    CCDS4873.2
    UniProtKB/Swiss-Prot
    A8K7D4, B7Z652, Q5TFZ5, Q6DKI1, Q6PEK3
    Related
    ENSP00000418221.3, ENST00000493763.7
    Conserved Domains (1) summary
    TIGR01310
    Location:23 → 255
    uL30_euk; 60S ribosomal protein uL30, eukaryotic form

  2. NM_198486.5 → NP_940888.3  ribosomal protein uL30-like

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variant 4 encode the same protein.
    Source sequence(s)
    AL035587
    Consensus CDS
    CCDS4873.2
    UniProtKB/Swiss-Prot
    A8K7D4, B7Z652, Q5TFZ5, Q6DKI1, Q6PEK3
    Related
    ENSP00000346063.4, ENST00000304734.9
    Conserved Domains (1) summary
    TIGR01310
    Location:23 → 255
    uL30_euk; 60S ribosomal protein uL30, eukaryotic form

RNA

  1. NR_134562.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal 5' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL035587

  2. NR_134563.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate 5' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL035587

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    42879616..42889900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    42708334..42718617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6DKI1.2 GenPept UniProtKB/Swiss-Prot:Q6DKI1

Gene LinkOut

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