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    ELP5 elongator acetyltransferase complex subunit 5 [ Homo sapiens (human) ]

    Gene ID: 23587, updated on 9-Dec-2024

    Summary

    Official Symbol
    ELP5provided by HGNC
    Official Full Name
    elongator acetyltransferase complex subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:30617
    See related
    Ensembl:ENSG00000170291 MIM:615019; AllianceGenome:HGNC:30617
    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
    DERP6; MST071; HSPC002; MSTP071; C17orf81
    Summary
    Predicted to contribute to tRNA binding activity. Predicted to be involved in positive regulation of cell migration and tRNA modification. Located in cytosol and nucleoplasm. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 39.1), brain (RPKM 8.9) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ELP5 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7251724..7259940)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7152647..7160863)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7155043..7163259)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7128275-7128774 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7142377-7143026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11605 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7144925-7145476 Neighboring gene PHD finger protein 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7145477-7146028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8094 Neighboring gene GABA type A receptor-associated protein Neighboring gene CTD nuclear envelope phosphatase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7154656-7155243 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7155244-7155832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7164637-7165600 Neighboring gene Sharpr-MPRA regulatory region 7888 Neighboring gene claudin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7185283-7186270 Neighboring gene solute carrier family 2 member 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7197310-7197485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8101 Neighboring gene Y-box binding protein 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 modification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA wobble uridine modification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    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 nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    elongator complex protein 5
    Names
    S-phase 2 protein
    dermal papilla derived protein 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015362.5NP_056177.4  elongator complex protein 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC003688
      Consensus CDS
      CCDS11094.2
      UniProtKB/Swiss-Prot
      A8K1M5, D3DTN9, Q659B6, Q7Z2T4, Q8TDR9, Q8TE02, Q9BUB2, Q9Y2Q4
      UniProtKB/TrEMBL
      I3L1Q3
      Related
      ENSP00000379868.3, ENST00000396627.7
    2. NM_203413.3NP_981958.2  elongator complex protein 5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a 3' terminal exon that extends past three splice sites used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC003688
      Consensus CDS
      CCDS11095.2
      UniProtKB/TrEMBL
      A0AAG2TUE2
      Related
      ENSP00000459835.2, ENST00000574993.6
    3. NM_203414.3NP_981959.2  elongator complex protein 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AC003688
      Consensus CDS
      CCDS11094.2
      UniProtKB/Swiss-Prot
      A8K1M5, D3DTN9, Q659B6, Q7Z2T4, Q8TDR9, Q8TE02, Q9BUB2, Q9Y2Q4
      UniProtKB/TrEMBL
      I3L1Q3
      Related
      ENSP00000379869.3, ENST00000396628.7
    4. NM_203415.4NP_981960.2  elongator complex protein 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AC003688
      Consensus CDS
      CCDS11094.2
      UniProtKB/Swiss-Prot
      A8K1M5, D3DTN9, Q659B6, Q7Z2T4, Q8TDR9, Q8TE02, Q9BUB2, Q9Y2Q4
      UniProtKB/TrEMBL
      I3L1Q3
      Related
      ENSP00000346412.3, ENST00000354429.7

    RNA

    1. NR_145515.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC003688, AL713741

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7251724..7259940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523779.3XP_011522081.1  elongator complex protein 5 isoform X1

      See identical proteins and their annotated locations for XP_011522081.1

      UniProtKB/TrEMBL
      I3L1Q3
      Conserved Domains (1) summary
      pfam10483
      Location:204283
      Elong_Iki1; Elongator subunit Iki1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160020.1 Reference GRCh38.p14 PATCHES

      Range
      7052..15268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332653.1XP_054188628.1  elongator complex protein 5 isoform X1

      UniProtKB/TrEMBL
      I3L1Q3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7152647..7160863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315636.1XP_054171611.1  elongator complex protein 5 isoform X1

      UniProtKB/TrEMBL
      I3L1Q3