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    RBIS ribosomal biogenesis factor [ Homo sapiens (human) ]

    Gene ID: 401466, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in colon (RPKM 16.9), fat (RPKM 15.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RBIS in Genome Data Viewer
    Location:
    8q21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (85214048..85220374, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (85652647..85658974, complement)
    RS_2024_09 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001099670.3NP_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:1100
      DUF4665; Domain of unknown function (DUF4665)
    2. NM_001099671.3NP_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:1100
      DUF4665; Domain of unknown function (DUF4665)
    3. NM_001099672.3NP_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:1100
      DUF4665; Domain of unknown function (DUF4665)
    4. NM_001099673.3NP_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:1100
      DUF4665; Domain of unknown function (DUF4665)
    5. NM_001293320.2NP_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:154
      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_2024_08

    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_011517528.4XP_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:1100
      DUF4665; Domain of unknown function (DUF4665)
    2. XM_047421777.1XP_047277733.1  ribosomal biogenesis factor isoform X2

      UniProtKB/TrEMBL
      A0A087WWE7
      Related
      ENSP00000444092.2, ENST00000545322.5
      Conserved Domains (1) summary
      pfam15679
      Location:154
      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_054360470.1XP_054216445.1  ribosomal biogenesis factor isoform X1

      UniProtKB/Swiss-Prot
      B2RXE7, E5RFW5, Q8N0T1
    2. XM_054360471.1XP_054216446.1  ribosomal biogenesis factor isoform X2

      UniProtKB/TrEMBL
      A0A087WWE7