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

Gene ID: 23587, updated on 26-Oct-2022

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, Apr 2022]
Expression
Broad expression in testis (RPKM 39.1), brain (RPKM 8.9) and 24 other tissues See more
Orthologs
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Genomic context

See ELP5 in Genome Data Viewer
Location:
17p13.1
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7251724..7259940)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7152647..7160863)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7155043..7163259)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dishevelled segment polarity protein 2 Neighboring gene PHD finger protein 23 Neighboring gene GABA type A receptor-associated protein Neighboring gene CTD nuclear envelope phosphatase 1 Neighboring gene Sharpr-MPRA regulatory region 7888 Neighboring gene claudin 7 Neighboring gene solute carrier family 2 member 4

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

Homology

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
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 IC
Inferred by Curator
more info
PubMed 
involved_in tRNA modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tRNA wobble uridine modification IC
Inferred by Curator
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
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
part_of elongator holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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_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
    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
    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
    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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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/Swiss-Prot
    Q8TE02, Q9Y2Q4
    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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

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