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RPF2 ribosome production factor 2 homolog [ Homo sapiens (human) ]

Gene ID: 84154, updated on 10-Oct-2019

Summary

Official Symbol
RPF2provided by HGNC
Official Full Name
ribosome production factor 2 homologprovided by HGNC
Primary source
HGNC:HGNC:20870
See related
Ensembl:ENSG00000197498 MIM:618471
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
BXDC1; bA397G5.4
Expression
Ubiquitous expression in thyroid (RPKM 6.1), testis (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See RPF2 in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (110982017..111028263)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (111303274..111347299)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene general transcription factor IIIC subunit 6 Neighboring gene RNA, U6 small nuclear 906, pseudogene Neighboring gene glutathione S-transferase mu 2 pseudogene 1 Neighboring gene solute carrier family 16 member 10 Neighboring gene RNA, U6 small nuclear 960, pseudogene

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

Clone Names

  • FLJ21087

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5S rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to nucleolus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
ribosomal large subunit assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribosomal large subunit biogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ribosome production factor 2 homolog
Names
brix domain containing 1
brix domain-containing protein 1
homolog of Rpf2
ribosomal processing factor 2 homolog
ribosome biogenesis protein RPF2 homolog

NCBI Reference Sequences (RefSeq)

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_001289111.1NP_001276040.1  ribosome production factor 2 homolog isoform 2

    See identical proteins and their annotated locations for NP_001276040.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate 5' exon and initiates translation at an alternate start codon, compared to variant 1. This results in a protein (isoform 2) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL357515, AL833613, BG529605
    Conserved Domains (1) summary
    cl00935
    Location:3234
    Brix; Brix domain
  2. NM_032194.3NP_115570.1  ribosome production factor 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_115570.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL357515, AL833613, BC035314, BG529605
    Consensus CDS
    CCDS5088.1
    UniProtKB/Swiss-Prot
    Q9H7B2
    Related
    ENSP00000402338.2, ENST00000441448.7
    Conserved Domains (1) summary
    cl00935
    Location:6297
    Brix; Brix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    110982017..111028263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011354.1XP_016866843.1  ribosome production factor 2 homolog isoform X1

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