Human Gene ELP6 (ENST00000296149.9_7) from GENCODE V47lift37
  Description: Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:22854966, PubMed:29332244). Involved in cell migration (By similarity). (from UniProt Q0PNE2)
Gencode Transcript: ENST00000296149.9_7
Gencode Gene: ENSG00000163832.16_14
Transcript (Including UTRs)
   Position: hg19 chr3:47,537,130-47,555,202 Size: 18,073 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr3:47,537,559-47,555,080 Size: 17,522 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:47,537,130-47,555,202)mRNA (may differ from genome)Protein (266 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MGIPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ELP6_HUMAN
DESCRIPTION: RecName: Full=Elongator complex protein 6; AltName: Full=Angiotonin-transactivated protein 1; AltName: Full=Protein TMEM103;
FUNCTION: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration.
SUBUNIT: Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6.
SIMILARITY: Belongs to the ELP6 family.
SEQUENCE CAUTION: Sequence=AAH00623.1; Type=Frameshift; Positions=256; Sequence=AAH14204.1; Type=Frameshift; Positions=256;

-  Primer design for this transcript
 

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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.53 RPKM in Testis
Total median expression: 334.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.70122-0.375 Picture PostScript Text
3' UTR -138.10429-0.322 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
IPR018627 - UPF0405

Pfam Domains:
PF09807 - Elongation complex protein 6

ModBase Predicted Comparative 3D Structure on Q0PNE2
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-  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 orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0002098 tRNA wobble uridine modification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008150 biological_process
GO:0030335 positive regulation of cell migration

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0033588 Elongator holoenzyme complex


-  Descriptions from all associated GenBank mRNAs
  KJ902704 - Synthetic construct Homo sapiens clone ccsbBroadEn_12098 C3orf75 gene, encodes complete protein.
BC000623 - Homo sapiens chromosome 3 open reading frame 75, mRNA (cDNA clone MGC:1068 IMAGE:3346325), complete cds.
BC014204 - Homo sapiens chromosome 3 open reading frame 75, mRNA (cDNA clone MGC:20645 IMAGE:4620013), complete cds.
AK225721 - Homo sapiens mRNA for hypothetical protein LOC54859 isoform 2 variant, clone: TMS09262.
AK298202 - Homo sapiens cDNA FLJ54324 complete cds.
DQ787088 - Homo sapiens angiotonin transactivated protein 1 (ATP1) mRNA, complete cds.
AK000218 - Homo sapiens cDNA FLJ20211 fis, clone COLF1807.
JD461961 - Sequence 442985 from Patent EP1572962.

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

Protein Q0PNE2 (Reactome details) participates in the following event(s):

R-HSA-3301345 Elongator complex acetylates replicative histone H3, H4
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: ATP1, C3orf75, ELP6 , ELP6_HUMAN, ENST00000296149.1, ENST00000296149.2, ENST00000296149.3, ENST00000296149.4, ENST00000296149.5, ENST00000296149.6, ENST00000296149.7, ENST00000296149.8, NR_188162, Q0PNE2, Q9BW57, Q9NXJ3, TMEM103, uc317lrr.1, uc317lrr.2
UCSC ID: ENST00000296149.9_7
RefSeq Accession: NM_001031703.3
Protein: Q0PNE2 (aka ELP6_HUMAN)

-  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.