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Aliases for ELP6 Gene

Aliases for ELP6 Gene

  • Elongator Acetyltransferase Complex Subunit 6 2 3 5
  • Angiotonin-Transactivated Protein 1 3 4
  • Transmembrane Protein 103 2 3
  • C3orf75 3 4
  • TMEM103 3 4
  • Elongator Complex Protein 6 Homolog 3
  • Chromosome 3 Open Reading Frame 75 2
  • Elongator Complex Protein 6 3
  • UPF0405 Protein C3orf75 3
  • Protein TMEM103 4
  • ATP1 4

External Ids for ELP6 Gene

Previous HGNC Symbols for ELP6 Gene

  • TMEM103
  • C3orf75

Previous GeneCards Identifiers for ELP6 Gene

  • GC03M047537

Summaries for ELP6 Gene

GeneCards Summary for ELP6 Gene

ELP6 (Elongator Acetyltransferase Complex Subunit 6) is a Protein Coding gene. Among its related pathways are Chromatin organization.

UniProtKB/Swiss-Prot for ELP6 Gene

  • 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.

Additional gene information for ELP6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELP6 Gene

Genomics for ELP6 Gene

Regulatory Elements for ELP6 Gene

Enhancers for ELP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H048085 1.8 FANTOM5 ENCODE dbSUPER 12.3 -574.1 -574140 5 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC MEF2D SSRP1 ATRIP DHX30 ENSG00000235236 SETD2 ZNF589 PTPN23 TMEM89 KLHL18 ENSG00000260236 BOLA2P2
GH03H047441 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +70.7 70663 3 FOXA2 ATF1 ARID4B SIN3A YY1 FOS KLF7 ATF7 SP5 REST NME6 SETD2 PTPN23 NBEAL2 SCAP ZNF589 MRPS18AP1 CCDC12 ELP6 BOLA2P2
GH03H047824 1.1 ENCODE 11.8 -311.5 -311519 2 HDGF ARNT ARID4B SIN3A DMAP1 YY1 CBX5 ZNF207 ZNF143 DEK DHX30 FCF1P2 ZNF589 SETD2 PTPN23 MIR1226 MAP4 BOLA2P2 ELP6 ENSG00000260236
GH03H047481 0.9 ENCODE 12.1 +31.7 31663 1 HDAC1 TBL1XR1 TCF12 ZNF766 GATA2 EGR1 CREM SMARCA5 ZBTB2 CEBPB ELP6 CDC25A SCAP GC03P047477 GC03P047492
GH03H047404 0.9 ENCODE dbSUPER 11.4 +108.3 108314 1 HDAC1 L3MBTL2 NR4A1 ZBTB11 MNT REST ZEB2 RELA ZNF592 MLLT1 PTPN23 SCAP ELP6 PTH1R GC03M047419 PIR43961 ENSG00000260236
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELP6 on UCSC Golden Path with GeneCards custom track

Promoters for ELP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152019 461 1801 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143

Genomic Location for ELP6 Gene

Chromosome:
3
Start:
47,495,640 bp from pter
End:
47,513,761 bp from pter
Size:
18,122 bases
Orientation:
Minus strand

Genomic View for ELP6 Gene

Genes around ELP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELP6 Gene

Proteins for ELP6 Gene

  • Protein details for ELP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0PNE2-ELP6_HUMAN
    Recommended name:
    Elongator complex protein 6
    Protein Accession:
    Q0PNE2
    Secondary Accessions:
    • Q9BW57
    • Q9NXJ3

    Protein attributes for ELP6 Gene

    Size:
    266 amino acids
    Molecular mass:
    29793 Da
    Quaternary structure:
    • Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6.
    SequenceCaution:
    • Sequence=AAH00623.1; Type=Frameshift; Positions=256; Evidence={ECO:0000305}; Sequence=AAH14204.1; Type=Frameshift; Positions=256; Evidence={ECO:0000305};

    Alternative splice isoforms for ELP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELP6 Gene

Post-translational modifications for ELP6 Gene

  • Ubiquitination at isoforms=299, isoforms=2116, posLast=248248, and posLast=259259
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ELP6 Gene

Domains & Families for ELP6 Gene

Gene Families for ELP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ELP6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q0PNE2

UniProtKB/Swiss-Prot:

ELP6_HUMAN :
  • Belongs to the ELP6 family.
Family:
  • Belongs to the ELP6 family.
genes like me logo Genes that share domains with ELP6: view

Function for ELP6 Gene

Molecular function for ELP6 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ELP6 Gene

Gene Ontology (GO) - Molecular Function for ELP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with ELP6: view
genes like me logo Genes that share phenotypes with ELP6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELP6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELP6 Gene

Localization for ELP6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELP6 gene
Compartment Confidence
plasma membrane 2
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0033588 Elongator holoenzyme complex IEA,IDA 22854966
genes like me logo Genes that share ontologies with ELP6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ELP6 Gene

Pathways & Interactions for ELP6 Gene

genes like me logo Genes that share pathways with ELP6: view

Pathways by source for ELP6 Gene

Gene Ontology (GO) - Biological Process for ELP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008150 biological_process ND --
GO:0030335 positive regulation of cell migration IEA,ISS --
genes like me logo Genes that share ontologies with ELP6: view

No data available for SIGNOR curated interactions for ELP6 Gene

Drugs & Compounds for ELP6 Gene

No Compound Related Data Available

Transcripts for ELP6 Gene

Unigene Clusters for ELP6 Gene

Elongator acetyltransferase complex subunit 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELP6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ELP6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a ·
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - -
SP11: - - - -
SP12: - - - - - - - - -
SP13: - -
SP14: - - - - - - - - - - - - - -
SP15: - - -

ExUns: 11b ^ 12a · 12b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ELP6 Gene

GeneLoc Exon Structure for
ELP6
ECgene alternative splicing isoforms for
ELP6

Expression for ELP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELP6 Gene

Protein differential expression in normal tissues from HIPED for ELP6 Gene

This gene is overexpressed in Breast (50.5) and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ELP6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ELP6 Gene:

ELP6

SOURCE GeneReport for Unigene cluster for ELP6 Gene:

Hs.311100

Evidence on tissue expression from TISSUES for ELP6 Gene

  • Intestine(4.2)
  • Liver(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with ELP6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELP6 Gene

Orthologs for ELP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELP6 33
  • 99.5 (n)
TMEM103 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELP6 34 33
  • 88.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C22H3orf75 33 34
  • 85.34 (n)
mouse
(Mus musculus)
Mammalia Elp6 16 34 33
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Elp6 33
  • 82.96 (n)
oppossum
(Monodelphis domestica)
Mammalia ELP6 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELP6 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H3ORF75 34 33
  • 67.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia elp6 33
  • 64.24 (n)
Str.11120 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15185 33
zebrafish
(Danio rerio)
Actinopterygii elp6 33 34
  • 58.53 (n)
Species where no ortholog for ELP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELP6 Gene

ENSEMBL:
Gene Tree for ELP6 (if available)
TreeFam:
Gene Tree for ELP6 (if available)

Paralogs for ELP6 Gene

(1) SIMAP similar genes for ELP6 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ELP6: view

No data available for Paralogs for ELP6 Gene

Variants for ELP6 Gene

Sequence variations from dbSNP and Humsavar for ELP6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000006934 -- 47,502,207(+) AGTTC(A/G)AGACC intron-variant
rs1000370582 -- 47,509,934(+) TTTTT(G/T)TATTT intron-variant
rs1000510501 -- 47,496,947(+) GTCTG(C/G)CTGAA intron-variant
rs1001030655 -- 47,514,436(+) GGATT(A/G)GAGAG upstream-variant-2KB
rs1001145011 -- 47,514,673(+) GGGCG(C/T)CTGTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ELP6 Gene

Variant ID Type Subtype PubMed ID
esv3596083 CNV gain 21293372
esv3596084 CNV loss 21293372
nsv428417 CNV loss 18775914

Variation tolerance for ELP6 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP6 Gene

Disorders for ELP6 Gene

Relevant External Links for ELP6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELP6

No disorders were found for ELP6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELP6 Gene

Publications for ELP6 Gene

  1. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PMID: 22854966) Close P … Chariot A (The Journal of biological chemistry 2012) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 60

Products for ELP6 Gene

Sources for ELP6 Gene

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