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RBIS ribosomal biogenesis factor [ Homo sapiens (human) ]

Gene ID: 401466, updated on 5-Sep-2021

Summary

Official Symbol
RBISprovided by HGNC
Official Full Name
ribosomal biogenesis factorprovided by HGNC
Primary source
HGNC:HGNC:32235
See related
Ensembl:ENSG00000176731
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
Expression
Ubiquitous expression in colon (RPKM 16.9), fat (RPKM 15.7) and 25 other tissues See more
Orthologs
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Genomic context

See RBIS in Genome Data Viewer
Location:
8q21.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (85214048..85221079, complement)
105.20201022 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 leucine rich repeat and coiled-coil centrosomal protein 1 Neighboring gene E2F5 divergent transcript Neighboring gene E2F transcription factor 5 Neighboring gene uncharacterized LOC105375936 Neighboring gene uncharacterized LOC105375935 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in ribosome biogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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_001099670.3NP_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
    Q8N0T1
    UniProtKB/TrEMBL
    A0A024R838
    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
    Q8N0T1
    UniProtKB/TrEMBL
    A0A024R838
    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
    Q8N0T1
    UniProtKB/TrEMBL
    A0A024R838
    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
    Q8N0T1
    UniProtKB/TrEMBL
    A0A024R838
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    85214048..85221079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517528.3XP_011515830.1  ribosomal biogenesis factor isoform X1

    See identical proteins and their annotated locations for XP_011515830.1

    UniProtKB/Swiss-Prot
    Q8N0T1
    UniProtKB/TrEMBL
    A0A024R838
    Conserved Domains (1) summary
    pfam15679
    Location:1100
    DUF4665; Domain of unknown function (DUF4665)
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