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ELP6 elongator acetyltransferase complex subunit 6 [ Homo sapiens (human) ]

Gene ID: 54859, updated on 17-Jun-2024

Summary

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Official Symbol
ELP6provided by HGNC
Official Full Name
elongator acetyltransferase complex subunit 6provided by HGNC
Primary source
HGNC:HGNC:25976
See related
Ensembl:ENSG00000163832 MIM:615020; AllianceGenome:HGNC:25976
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C3orf75; TMEM103
Summary
Predicted to be involved in positive regulation of cell migration. Located in cytosol and nucleus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.4), adrenal (RPKM 3.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ELP6 in Genome Data Viewer
Location:
3p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47495640..47513712, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47514706..47532767, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47537130..47555202, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SREBF chaperone Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14309 Neighboring gene uncharacterized LOC105377073 Neighboring gene SPMIP3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:47529703-47530204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:47530205-47530704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:47546017-47546910 Neighboring gene bolA family member 2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19818 Neighboring gene uncharacterized LOC105377074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47584435-47584935 Neighboring gene RNA, 7SL, cytoplasmic 870, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Developing and mature human granulocytes express ELP 6 in the cytoplasm. Wagner LA, et al. Hum Antibodies, 2013. PMID 24284306, Free PMC Article
  2. The Many Faces of Elongator in Neurodevelopment and Disease. Kojic M, et al. Front Mol Neurosci, 2016. PMID 27847465, Free PMC Article
  3. Cryo-EM structure of the fully assembled Elongator complex. Jaciuk M, et al. Nucleic Acids Res, 2023 Mar 21. PMID 36617428, Free PMC Article
  4. Dimerization of elongator protein 1 is essential for Elongator complex assembly. Xu H, et al. Proc Natl Acad Sci U S A, 2015 Aug 25. PMID 26261306, Free PMC Article
  5. DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. Close P, et al. J Biol Chem, 2012 Sep 21. PMID 22854966, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ELP6 is expressed intracellularly in developing and mature granulocytes and monocytes but not in lymphocytes and erythrocytes.
    Title: Developing and mature human granulocytes express ELP 6 in the cytoplasm.
  2. data identify DERP6/ELP5 and C3ORF75/ELP6 as key players for migration, invasion and tumorigenicity of melanoma cells, as integral subunits of Elongator.
    Title: DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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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

Homology

Clone Names

  • FLJ20211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of translation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in tRNA wobble uridine modification NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
part_of elongator holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of elongator holoenzyme complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
elongator complex protein 6
Names
UPF0405 protein C3orf75
angiotonin-transactivated protein 1
elongator complex protein 6 homolog
transmembrane protein 103

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.

mRNA and Protein(s)

  1. NM_001031703.3 → NP_001026873.2  elongator complex protein 6 isoform 1

    See identical proteins and their annotated locations for NP_001026873.2

    Status: VALIDATED

    Source sequence(s)
    AC099778, BC000623
    Consensus CDS
    CCDS43082.1
    UniProtKB/Swiss-Prot
    Q0PNE2, Q9BW57, Q9NXJ3
    UniProtKB/TrEMBL
    B4DP60
    Related
    ENSP00000296149.4, ENST00000296149.9
    Conserved Domains (1) summary
    pfam09807
    Location:2 → 251
    ELP6; Elongation complex protein 6

  2. NM_001363957.1 → NP_001350886.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    Consensus CDS
    CCDS87073.1
    UniProtKB/TrEMBL
    C9IYN7
    Conserved Domains (1) summary
    pfam09807
    Location:1 → 178
    ELP6; Elongation complex protein 6

  3. NM_001424210.1 → NP_001411139.1  elongator complex protein 6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  4. NM_001424211.1 → NP_001411140.1  elongator complex protein 6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  5. NM_001424212.1 → NP_001411141.1  elongator complex protein 6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  6. NM_001424213.1 → NP_001411142.1  elongator complex protein 6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  7. NM_001424214.1 → NP_001411143.1  elongator complex protein 6 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  8. NM_001424215.1 → NP_001411144.1  elongator complex protein 6 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC099778

  9. NM_001424216.1 → NP_001411145.1  elongator complex protein 6 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  10. NM_001424217.1 → NP_001411146.1  elongator complex protein 6 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  11. NM_001424218.1 → NP_001411147.1  elongator complex protein 6 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  12. NM_001424219.1 → NP_001411148.1  elongator complex protein 6 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    B4DP60

  13. NM_001424220.1 → NP_001411149.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7
    Related
    ENSP00000402399.1, ENST00000439305.5

  14. NM_001424222.1 → NP_001411151.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7

  15. NM_001424223.1 → NP_001411152.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7

  16. NM_001424224.1 → NP_001411153.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7

  17. NM_001424225.1 → NP_001411154.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7
    Related
    ENSP00000412593.1, ENST00000446787.5

  18. NM_001424226.1 → NP_001411155.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7

  19. NM_001424227.1 → NP_001411156.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    UniProtKB/TrEMBL
    C9IYN7

  20. NM_001424228.1 → NP_001411157.1  elongator complex protein 6 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC099778

  21. NM_001424229.1 → NP_001411158.1  elongator complex protein 6 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC099778

  22. NM_001424230.1 → NP_001411159.1  elongator complex protein 6 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC099778

  23. NM_001424231.1 → NP_001411160.1  elongator complex protein 6 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC099778

RNA

  1. NR_188162.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC099778
    Related
    ENST00000442215.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    47495640..47513712 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448388.1 → XP_047304344.1  elongator complex protein 6 isoform X5

    UniProtKB/TrEMBL
    B4DP60

  2. XM_011533851.4 → XP_011532153.1  elongator complex protein 6 isoform X1

    Conserved Domains (1) summary
    pfam09807
    Location:2 → 175
    ELP6; Elongation complex protein 6

  3. XM_011533854.4 → XP_011532156.1  elongator complex protein 6 isoform X6

    See identical proteins and their annotated locations for XP_011532156.1

    Conserved Domains (1) summary
    pfam09807
    Location:7 → 126
    ELP6; Elongation complex protein 6

  4. XM_047448390.1 → XP_047304346.1  elongator complex protein 6 isoform X8

  5. XM_011533853.4 → XP_011532155.1  elongator complex protein 6 isoform X3

    Conserved Domains (1) summary
    pfam09807
    Location:2 → 158
    ELP6; Elongation complex protein 6

  6. XM_047448389.1 → XP_047304345.1  elongator complex protein 6 isoform X6

  7. XM_011533852.4 → XP_011532154.1  elongator complex protein 6 isoform X2

    Conserved Domains (1) summary
    pfam09807
    Location:16 → 172
    ELP6; Elongation complex protein 6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    47514706..47532767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346990.1 → XP_054202965.1  elongator complex protein 6 isoform X5

    UniProtKB/TrEMBL
    B4DP60

  2. XM_054346991.1 → XP_054202966.1  elongator complex protein 6 isoform X6

  3. XM_054346994.1 → XP_054202969.1  elongator complex protein 6 isoform X8

  4. XM_054346988.1 → XP_054202963.1  elongator complex protein 6 isoform X3

  5. XM_054346987.1 → XP_054202962.1  elongator complex protein 6 isoform X2

  6. XM_054346986.1 → XP_054202961.1  elongator complex protein 6 isoform X1

  7. XM_054346992.1 → XP_054202967.1  elongator complex protein 6 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017713.1: Suppressed sequence

    Description
    NM_017713.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q0PNE2.1 GenPept UniProtKB/Swiss-Prot:Q0PNE2

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