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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

GeneHancer (GH) Regulatory Elements for ELP6 Gene

Promoters and enhancers for ELP6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I047511 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.9 907 2.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ELP6 SETD2 NME6 MRPS18AP1 ZNF589 PTPN23 ATRIP CCDC12 FCF1P2 BOLA2P2
GH03I048085 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 -574.1 -574140 5.3 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 MAP4 ATRIP DHX30 ZNF589 ENSG00000235236 SETD2 PTPN23 TMEM89 KLHL18 ENSG00000260236
GH03I047824 Promoter/Enhancer 1.5 Ensembl ENCODE 11.8 -311.5 -311518 2.3 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B CBX5 ZNF207 ZNF143 DHX30 ZNF589 MIR1226 MAP4 FCF1P2 ELP6 ENSG00000260236 CDC25A ENSG00000274420 GC03P047843
GH03I047441 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +70.7 70663 4 FOXA2 ARID4B SIN3A ETS1 YY1 KLF7 ATF7 FOS RXRA SP5 NME6 SETD2 PTPN23 NBEAL2 SCAP ZNF589 MRPS18AP1 CCDC12 ELP6 BOLA2P2
GH03I047404 Enhancer 0.9 ENCODE dbSUPER 11.4 +108.3 108314 1.9 HDAC1 RELA VEZF1 CBFA2T2 ZNF263 L3MBTL2 ZBTB11 NR4A1 CBFA2T3 ZEB2 PTPN23 SCAP ELP6 PTH1R PIR43961 GC03M047419 ENSG00000260236
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELP6 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ELP6 Gene

Genomic Locations for ELP6 Gene
chr3:47,495,640-47,513,761
(GRCh38/hg38)
Size:
18,122 bases
Orientation:
Minus strand
chr3:47,537,130-47,555,251
(GRCh37/hg19)

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 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 posLast=9999, Lys116, posLast=248248, and posLast=259259

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

Clone Products

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:0002098 tRNA wobble uridine modification IEA --
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:

Clone Products

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

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 33 34
  • 88.04 (n)
cow
(Bos Taurus)
Mammalia C22H3orf75 34 33
  • 85.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elp6 33 16 34
  • 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 Variation AA Info Type
rs1000006934 -- 47,502,207(-) G/A intron_variant
rs1000370582 -- 47,509,934(-) G/T intron_variant
rs1000510501 -- 47,496,947(-) G/C genic_downstream_transcript_variant, intron_variant
rs1001030655 -- 47,514,436(-) A/G upstream_transcript_variant
rs1001145011 -- 47,514,673(-) C/T upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 58

Products for ELP6 Gene

Sources for ELP6 Gene

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