RPL35A ribosomal protein L35a [Homo sapiens (human)] - Gene

Summary

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
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Genomic context

Location:: 3q29

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (197950190..197956610)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (200681894..200689065)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (197677061..197683481)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination.
Title: RPL35A promotes the progression of cholangiocarcinoma by mediating HSPA8 ubiquitination.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
Inhibition of cell death by ribosomal protein L35a.
Title: Inhibition of cell death by ribosomal protein L35a.

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Phenotypes

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3481E (e-PCR)
- UniSTS:154064

D3S3954 (e-PCR)
- UniSTS:5103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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 more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: large ribosomal subunit protein eL33

Names: 60S ribosomal protein L35a; cell growth-inhibiting gene 33 protein

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.

Genomic

NG_011743.1 RefSeqGene

Range

5010..11430

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1129

mRNA and Protein(s)

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
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