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RPS19 ribosomal protein S19 [ Homo sapiens (human) ]

Gene ID: 6223, updated on 13-Mar-2020

Summary

Official Symbol
RPS19provided by HGNC
Official Full Name
ribosomal protein S19provided by HGNC
Primary source
HGNC:HGNC:10402
See related
Ensembl:ENSG00000105372 MIM:603474
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DBA; S19; DBA1; eS19; LOH19CR1
Summary
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 359.5), lymph node (RPKM 249.2) and 25 other tissues See more
Orthologs

Genomic context

See RPS19 in Genome Data Viewer
Location:
19q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (41860255..41872925)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42363988..42375484)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 Neighboring gene LY6/PLAUR domain containing 4 Neighboring gene DMRT like family C2 Neighboring gene microRNA 6797 Neighboring gene CD79a molecule Neighboring gene Rho guanine nucleotide exchange factor 1

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?

Phenotypes

Associated conditions

Description Tests
Diamond-Blackfan anemia 1
MedGen: C2676137 OMIM: 105650 GeneReviews: Diamond-Blackfan Anemia
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human ribosomal protein S19 (RPS19) at amino acid residues 105-106 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of ribosome HDA PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
SRP-dependent cotranslational protein targeting to membrane TAS
Traceable Author Statement
more info
 
antimicrobial humoral immune response mediated by antimicrobial peptide IDA
Inferred from Direct Assay
more info
PubMed 
defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
killing of cells of other organism IDA
Inferred from Direct Assay
more info
PubMed 
maturation of SSU-rRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
Inferred from Mutant Phenotype
more info
PubMed 
monocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of respiratory burst involved in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 
nucleolus organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cellular component movement TAS
Traceable Author Statement
more info
PubMed 
positive regulation of respiratory burst involved in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
rRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to extracellular stimulus TAS
Traceable Author Statement
more info
PubMed 
ribosomal small subunit assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribosomal small subunit assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
ribosomal small subunit biogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
translation IC
Inferred by Curator
more info
PubMed 
translational initiation TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
cytosolic small ribosomal subunit HDA PubMed 
cytosolic small ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosolic small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
focal adhesion HDA PubMed 
membrane HDA PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
postsynaptic density EXP
Inferred from Experiment
more info
PubMed 
postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
ribosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
40S ribosomal protein S19
Names
loss of heterozygosity on chromosome 19, region 1
loss of heterozygosity, 19, chromosomal region 1
small ribosomal subunit protein eS19

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.

Genomic

  1. NG_007080.3 RefSeqGene

    Range
    5338..18008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001022.4NP_001013.1  40S ribosomal protein S19 isoform 1

    See identical proteins and their annotated locations for NP_001013.1

    Status: REVIEWED

    Source sequence(s)
    AC243967, BC018616
    Consensus CDS
    CCDS12588.1
    UniProtKB/Swiss-Prot
    P39019
    UniProtKB/TrEMBL
    B0ZBD0
    Related
    ENSP00000470972.1, ENST00000598742.6
    Conserved Domains (1) summary
    pfam01090
    Location:5141
    Ribosomal_S19e; Ribosomal protein S19e
  2. NM_001321483.2NP_001308412.1  40S ribosomal protein S19 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC243967, CB125125
    Consensus CDS
    CCDS12588.1
    UniProtKB/Swiss-Prot
    P39019
    UniProtKB/TrEMBL
    B0ZBD0
    Related
    ENSP00000470004.1, ENST00000593863.5
    Conserved Domains (1) summary
    pfam01090
    Location:5141
    Ribosomal_S19e; Ribosomal protein S19e
  3. NM_001321484.2NP_001308413.1  40S ribosomal protein S19 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AA165492, AC243967, BG398397, BM468237
    Consensus CDS
    CCDS12588.1
    UniProtKB/Swiss-Prot
    P39019
    UniProtKB/TrEMBL
    B0ZBD0
    Related
    ENSP00000469228.2, ENST00000600467.6
    Conserved Domains (1) summary
    pfam01090
    Location:5141
    Ribosomal_S19e; Ribosomal protein S19e
  4. NM_001321485.2NP_001308414.1  40S ribosomal protein S19 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC243967, BP270469, BU603942, CB124389
    Conserved Domains (1) summary
    cl00969
    Location:557
    Ribosomal_S19e; Ribosomal protein S19e

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    41860255..41872925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027113.2XP_016882602.1  40S ribosomal protein S19 isoform X1

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