Human Gene RPL35A (ENST00000647248.2_5) from GENCODE V47lift37
  Description: ribosomal protein L35a, transcript variant 1 (from RefSeq NM_001316311.2)
Gencode Transcript: ENST00000647248.2_5
Gencode Gene: ENSG00000182899.17_13
Transcript (Including UTRs)
   Position: hg19 chr3:197,677,061-197,683,481 Size: 6,421 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr3:197,677,839-197,682,644 Size: 4,806 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:197,677,061-197,683,481)mRNA (may differ from genome)Protein (110 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RL35A_HUMAN
DESCRIPTION: RecName: Full=60S ribosomal protein L35a; AltName: Full=Cell growth-inhibiting gene 33 protein;
FUNCTION: Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site.
INTERACTION: P62633:CNBP; NbExp=1; IntAct=EBI-353383, EBI-1047529; O43586:PSTPIP1; NbExp=1; IntAct=EBI-353383, EBI-1050964;
DISEASE: Defects in RPL35A are the cause of Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528]. DBA5 is a form of Diamond- Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
MISCELLANEOUS: Knockdown of RPL35A in hematopoietic cell lines results in decreased cell proliferation, increased apoptosis, decreased biogenesis of mature 60S ribosomal subunit, and abnormal processing of large ribosomal subunit rRNA.
SIMILARITY: Belongs to the ribosomal protein L35Ae family.
WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database; URL="http://www.dbagenes.unito.it/home.php?select_db=RPL35A";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RPL35A
Diseases sorted by gene-association score: diamond-blackfan anemia 5* (1229), rpl35a-related diamond-blackfan anemia* (500), diamond-blackfan anemia* (133), macrocytic anemia (8), pierre robin syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • D015084 2,4-Dichlorophenoxyacetic Acid
  • C023514 2,6-dinitrotoluene
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • C028451 3,4,3',4'-tetrachlorobiphenyl
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000643 Ammonium Chloride
  • D001554 Benzene
  • D002251 Carbon Tetrachloride
  • D004052 Diethylnitrosamine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.7064-0.308 Picture PostScript Text
3' UTR -226.70837-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001780 - Ribosomal_L35A
IPR018266 - Ribosomal_L35Ae_CS
IPR009000 - Transl_elong_init/rib_B-barrel

Pfam Domains:
PF01247 - Ribosomal protein L35Ae

SCOP Domains:
50447 - Translation proteins

ModBase Predicted Comparative 3D Structure on P18077
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene Details  Gene Details Gene Details
Gene Sorter  Gene Sorter Gene Sorter
  Ensembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0003723 RNA binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0002181 cytoplasmic translation
GO:0006364 rRNA processing
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0042273 ribosomal large subunit biogenesis

Cellular Component:
GO:0005622 intracellular
GO:0005829 cytosol
GO:0005840 ribosome
GO:0016020 membrane
GO:0022625 cytosolic large ribosomal subunit
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC010949 - Homo sapiens ribosomal protein L35a, mRNA (cDNA clone MGC:13603 IMAGE:4107948), complete cds.
AY871273 - Homo sapiens cell growth-inhibiting protein 33 mRNA, complete cds.
AB055768 - Homo sapiens mRNA for ribosomal protein L35a, partial cds.
X52966 - Human mRNA for ribosomal protein L35a.
AK026542 - Homo sapiens cDNA: FLJ22889 fis, clone KAT04570.
BC001037 - Homo sapiens ribosomal protein L35a, mRNA (cDNA clone MGC:1639 IMAGE:3140124), complete cds.
BC061890 - Homo sapiens ribosomal protein L35a, mRNA (cDNA clone MGC:74787 IMAGE:5185135), complete cds.
BC017093 - Homo sapiens ribosomal protein L35a, mRNA (cDNA clone MGC:9770 IMAGE:3856562), complete cds.
KJ892042 - Synthetic construct Homo sapiens clone ccsbBroadEn_01436 RPL35A gene, encodes complete protein.
JD428408 - Sequence 409432 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P18077 (Reactome details) participates in the following event(s):

R-HSA-72672 The 60S subunit joins the translation initiation complex
R-HSA-156826 Dissociation of L13a from the 60s ribosomal subunit
R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome
R-HSA-72671 eIF5B:GTP is hydrolyzed and released
R-HSA-156907 Aminoacyl-tRNA binds to the ribosome at the A-site
R-HSA-2408529 Sec-tRNA(Sec):EEFSEC:GTP binds to 80S Ribosome
R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex
R-HSA-156915 Translocation of ribosome by 3 bases in the 3' direction
R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex
R-HSA-156912 Peptide transfer from P-site tRNA to the A-site tRNA
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex
R-HSA-1799332 Nascent polypeptide:mRNA:ribosome complex binds signal recognition particle (SRP)
R-HSA-156923 Hydrolysis of eEF1A:GTP
R-HSA-5333615 80S:Met-tRNAi:mRNA:SECISBP2:Sec-tRNA(Sec):EEFSEC:GTP is hydrolysed to 80S:Met-tRNAi:mRNA:SECISBP2:Sec and EEFSEC:GDP by EEFSEC
R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein
R-HSA-1799330 The SRP receptor binds the SRP:nascent peptide:ribosome complex
R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-156827 L13a-mediated translation
R-HSA-72689 Formation of a pool of free 40S subunits
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72737 Cap-dependent Translation Initiation
R-HSA-72613 Eukaryotic Translation Initiation
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-156902 Peptide chain elongation
R-HSA-2408557 Selenocysteine synthesis
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-72766 Translation
R-HSA-376176 Signaling by ROBO receptors
R-HSA-192823 Viral mRNA Translation
R-HSA-72312 rRNA processing
R-HSA-156842 Eukaryotic Translation Elongation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-392499 Metabolism of proteins
R-HSA-422475 Axon guidance
R-HSA-168273 Influenza Viral RNA Transcription and Replication
R-HSA-8953854 Metabolism of RNA
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1266738 Developmental Biology
R-HSA-168255 Influenza Life Cycle
R-HSA-1430728 Metabolism
R-HSA-168254 Influenza Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000647248.1, GIG33, NM_001316311, P18077, Q08ES9, Q9BVN7, RL35A_HUMAN, uc328nht.1, uc328nht.2
UCSC ID: ENST00000647248.2_5
RefSeq Accession: NM_000996.4
Protein: P18077 (aka RL35A_HUMAN or R35A_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RPL35A:
diamond-b (Diamond-Blackfan Anemia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.