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

    Gene ID: 54859, updated on 27-Dec-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. Predicted to act upstream of or within several processes, including autophagosome maturation; gene expression; and homeostasis of number of retina cells. Located in cytosol and nucleus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.4), adrenal (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47495640..47513712, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47514706..47532767, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. 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
    4. Cryo-EM structure of the fully assembled Elongator complex. Jaciuk M, et al. Nucleic Acids Res, 2023 Mar 21. PMID 36617428, 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 (35) 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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