U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

RPL35A ribosomal protein L35a [ Homo sapiens (human) ]

Gene ID: 6165, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
RPL35Aprovided by HGNC
Official Full Name
ribosomal protein L35aprovided by HGNC
Primary source
HGNC:HGNC:10345
See related
Ensembl:ENSG00000182899 MIM:180468; AllianceGenome:HGNC:10345
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
DBA5; L35A; eL33
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 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]
Expression
Ubiquitous expression in ovary (RPKM 893.9), bone marrow (RPKM 452.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
3q29
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (197950190..197956610)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (200681894..200689065)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (197677061..197683481)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NUP98-IQCG recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197626412-197627184 Neighboring gene RNA, U6 small nuclear 858, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:197628168-197628668 Neighboring gene uncharacterized LOC124906330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15094 Neighboring gene IQ motif containing G Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:197639502-197640701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197676763-197677545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197678329-197679110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:197685865-197686365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15095 Neighboring gene MPRA-validated peak4998 silencer Neighboring gene leishmanolysin like peptidase Neighboring gene MPRA-validated peak4999 silencer Neighboring gene RNA, U6 small nuclear 621, pseudogene Neighboring gene LMLN antisense RNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Gianferante MD, et al. Haematologica, 2021 May 1. PMID 32241839, Free PMC Article
  2. Inhibition of cell death by ribosomal protein L35a. Lopez CD, et al. Cancer Lett, 2002 Jun 28. PMID 12175552
  3. The human L35a ribosomal protein (RPL35A) gene is located at chromosome band 3q29-qter. Colombo P, et al. Genomics, 1996 Feb 15. PMID 8786106
  4. cDNA encoding the human homologue of rat ribosomal protein L35a. Herzog H, et al. Nucleic Acids Res, 1990 Aug 11. PMID 2388839, Free PMC Article
  5. Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. Alkhunaizi E, et al. Am J Med Genet A, 2017 Jun. PMID 28432740

See all (160) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RPL35A drives ovarian cancer progression by promoting the binding of YY1 to CTCF promoter.
    Title: RPL35A drives ovarian cancer progression by promoting the binding of YY1 to CTCF promoter.
  2. RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination.
    Title: RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination.
  3. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
    Title: Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
  4. We identified 85 overlapping deletions, of which six included the RPL35A gene and all should be had Diamond-Blackfan anemia (DBA).we sequenced the remaining RNF168 gene and examined her fibroblast culture for a DNA double strand break repair deficiency. These results were normal, indicating that the immunodeficiency is unlikely to result from a RNF168 deficiency.
    Title: Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature.
  5. Data show 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion.
    Title: Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
  6. Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A.
    Title: Ribosomal protein gene deletions in Diamond-Blackfan anemia.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. analysis of 2 Diamond-Blackfan anemia (DBA) patients with chromosome 3q deletions identified RPL35A as a potential DBA gene
    Title: Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
  9. Inhibition of cell death by ribosomal protein L35a.
    Title: Inhibition of cell death by ribosomal protein L35a.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Diamond-Blackfan anemia 5
MedGen: C2675859 OMIM: 612528 GeneReviews: Diamond-Blackfan Anemia
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, ribosomal protein L35a (RPL35A), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
Tat tat Expression of HIV-1 Tat downregulates the abundance of ribosomal protein L35a (RPL35A) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
enables structural constituent of ribosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables structural constituent of ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
enables tRNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cytoplasmic translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytoplasmic translation IC
Inferred by Curator
more info
 PubMed 
involved_in cytoplasmic translation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in rRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ribosomal large subunit biogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ribosomal large subunit biogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of cytosolic large ribosomal subunit HDA PubMed 
part_of cytosolic large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of cytosolic large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of cytosolic large ribosomal subunit IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytosolic ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
large ribosomal subunit protein eL33
Names
60S ribosomal protein L35a
cell growth-inhibiting gene 33 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

  1. NG_011743.1 RefSeqGene

    Range
    5010..11430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1129

mRNA and Protein(s)

  1. NM_000996.4 → NP_000987.2  large ribosomal subunit protein eL33

    See identical proteins and their annotated locations for NP_000987.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AW575227, BC010949, BM972808
    Consensus CDS
    CCDS33930.1
    UniProtKB/Swiss-Prot
    P18077, Q08ES9, Q9BVN7
    UniProtKB/TrEMBL
    C9K025
    Related
    ENSP00000495672.1, ENST00000647248.2
    Conserved Domains (1) summary
    pfam01247
    Location:5 → 103
    Ribosomal_L35Ae; Ribosomal protein L35Ae

  2. NM_001316311.2 → NP_001303240.1  large ribosomal subunit protein eL33

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC135893, BC017093
    Consensus CDS
    CCDS33930.1
    UniProtKB/Swiss-Prot
    P18077, Q08ES9, Q9BVN7
    UniProtKB/TrEMBL
    C9K025
    Related
    ENSP00000393393.1, ENST00000448864.6
    Conserved Domains (1) summary
    pfam01247
    Location:5 → 103
    Ribosomal_L35Ae; Ribosomal protein L35Ae

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    197950190..197956610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    200681894..200689065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347474.1 → XP_054203449.1  large ribosomal subunit protein eL33 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P18077.2 GenPept UniProtKB/Swiss-Prot:P18077

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous