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

    Gene ID: 285855, updated on 10-Dec-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. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    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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    See RPL7L1 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42879616..42889900)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42708334..42718617)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 17209 Neighboring gene peroxisomal biogenesis factor 39 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: 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. 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 (90) 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)

    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 mitochondrion HTP PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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