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    RBIS ribosomal biogenesis factor [ Homo sapiens (human) ]

    Gene ID: 401466, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RBISprovided by HGNC
    Official Full Name
    ribosomal biogenesis factorprovided by HGNC
    Primary source
    HGNC:HGNC:32235
    See related
    Ensembl:ENSG00000176731 AllianceGenome:HGNC:32235
    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
    C8orf59
    Summary
    Involved in ribosome biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 16.9), fat (RPKM 15.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (85214048..85220374, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (85652647..85658974, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86126283..86132603, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27589 Neighboring gene leucine rich repeat and coiled-coil centrosomal protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19334 Neighboring gene E2F5 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27591 Neighboring gene E2F transcription factor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:86132079-86132850 Neighboring gene uncharacterized LOC124901969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27593 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:86133623-86134392 Neighboring gene uncharacterized LOC105375936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86138147-86138646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27594 Neighboring gene carbonic anhydrase 13

    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. The complexity of human ribosome biogenesis revealed by systematic nucleolar screening of Pre-rRNA processing factors. Tafforeau L, et al. Mol Cell, 2013 Aug 22. PMID 23973377
    2. Genome-wide RNAi Screening Identifies Protein Modules Required for 40S Subunit Synthesis in Human Cells. Badertscher L, et al. Cell Rep, 2015 Dec 29. PMID 26711351
    3. Identification and initial characterization of 5000 expressed sequenced tags (ESTs) each from adult human normal and osteoarthritic cartilage cDNA libraries. Kumar S, et al. Osteoarthritis Cartilage, 2001 Oct. PMID 11597177
    4. Rapid identification of 14-3-3-binding proteins by protein microarray analysis. Satoh J, et al. J Neurosci Methods, 2006 Apr 15. PMID 16260042
    5. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Beilina A, et al. Proc Natl Acad Sci U S A, 2014 Feb 18. PMID 24510904, Free PMC Article

    See all (23) 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

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ribosome biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosome biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ribosomal biogenesis factor
    Names
    ribosome biogenesis factor identified in screen
    uncharacterized protein C8orf59

    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_001099670.3 → NP_001093140.1  ribosomal biogenesis factor isoform 1

      See identical proteins and their annotated locations for NP_001093140.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1-4 encode the same isoform.
      Source sequence(s)
      AC011773, BC055092, BM785759
      Consensus CDS
      CCDS55255.1
      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1
      Related
      ENSP00000484101.1, ENST00000612977.4
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 100
      DUF4665; Domain of unknown function (DUF4665)

    2. NM_001099671.3 → NP_001093141.1  ribosomal biogenesis factor isoform 1

      See identical proteins and their annotated locations for NP_001093141.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AC011773, BC055092, CD103186
      Consensus CDS
      CCDS55255.1
      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1
      Related
      ENSP00000482944.1, ENST00000615697.4
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 100
      DUF4665; Domain of unknown function (DUF4665)

    3. NM_001099672.3 → NP_001093142.1  ribosomal biogenesis factor isoform 1

      See identical proteins and their annotated locations for NP_001093142.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AC011773, BC055092, BC062221
      Consensus CDS
      CCDS55255.1
      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1
      Related
      ENSP00000481745.1, ENST00000612809.4
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 100
      DUF4665; Domain of unknown function (DUF4665)

    4. NM_001099673.3 → NP_001093143.1  ribosomal biogenesis factor isoform 1

      See identical proteins and their annotated locations for NP_001093143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AC011773, BC055092
      Consensus CDS
      CCDS55255.1
      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1
      Related
      ENSP00000484492.1, ENST00000619594.5
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 100
      DUF4665; Domain of unknown function (DUF4665)

    5. NM_001293320.2 → NP_001280249.1  ribosomal biogenesis factor isoform 2

      See identical proteins and their annotated locations for NP_001280249.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to variant 1.
      Source sequence(s)
      AC011773, BC055092, CB119146, CN481353
      Consensus CDS
      CCDS78351.1
      UniProtKB/TrEMBL
      A0A087WWE7
      Related
      ENSP00000480167.1, ENST00000614462.4
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 54
      DUF4665; Domain of unknown function (DUF4665)

    RNA

    1. NR_120681.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two exons and contains an alternate 3'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC032347, CN481353
      Related
      ENST00000321777.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      85214048..85220374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517528.4 → XP_011515830.1  ribosomal biogenesis factor isoform X1

      See identical proteins and their annotated locations for XP_011515830.1

      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 100
      DUF4665; Domain of unknown function (DUF4665)

    2. XM_047421777.1 → XP_047277733.1  ribosomal biogenesis factor isoform X2

      UniProtKB/TrEMBL
      A0A087WWE7
      Related
      ENSP00000444092.2, ENST00000545322.5
      Conserved Domains (1) summary
      pfam15679
      Location:1 → 54
      DUF4665; Domain of unknown function (DUF4665)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      85652647..85658974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360470.1 → XP_054216445.1  ribosomal biogenesis factor isoform X1

      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1

    2. XM_054360471.1 → XP_054216446.1  ribosomal biogenesis factor isoform X2

      UniProtKB/TrEMBL
      A0A087WWE7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0T1.4 GenPept UniProtKB/Swiss-Prot:Q8N0T1

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

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