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RBFA ribosome binding factor A [ Homo sapiens (human) ]

Gene ID: 79863, updated on 18-Oct-2022

Summary

Official Symbol
RBFAprovided by HGNC
Official Full Name
ribosome binding factor Aprovided by HGNC
Primary source
HGNC:HGNC:26120
See related
Ensembl:ENSG00000101546 AllianceGenome:HGNC:26120
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
HsT169; C18orf22
Summary
Predicted to be involved in rRNA processing. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 3.2), skin (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

See RBFA in Genome Data Viewer
Location:
18q23
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (80034434..80050651)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (80310952..80327167)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (77794434..77810651)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene heat shock factor binding protein 1 like 1 Neighboring gene thioredoxin like 4A Neighboring gene Sharpr-MPRA regulatory region 15651 Neighboring gene RBFA downstream neighbor Neighboring gene solute carrier family 25 member 6 pseudogene 4 Neighboring gene ADNP homeobox 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ18281, FLJ18505, FLJ21172, FLJ42604, FLJ97160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
putative ribosome-binding factor A, mitochondrial
Names
ribosome binding factor A (putative)

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_001171967.2NP_001165438.1  putative ribosome-binding factor A, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001165438.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC090360, AF439745, AK307212
    Consensus CDS
    CCDS54194.1
    UniProtKB/Swiss-Prot
    Q8N0V3
    Related
    ENSP00000262197.6, ENST00000262197.7
    Conserved Domains (1) summary
    pfam02033
    Location:92160
    RBFA; Ribosome-binding factor A
  2. NM_024805.3NP_079081.2  putative ribosome-binding factor A, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_079081.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090360, AK307212, BC057772
    Consensus CDS
    CCDS12021.1
    UniProtKB/Swiss-Prot
    Q8N0V3, Q9H776
    Related
    ENSP00000305696.4, ENST00000306735.10
    Conserved Domains (2) summary
    pfam02033
    Location:92185
    RBFA; Ribosome-binding factor A
    cl21572
    Location:242286
    GatB_Yqey; GatB domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    80034434..80050651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    80310952..80327167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)