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

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, Oct 2024]
Expression: Broad expression in testis (RPKM 39.1), brain (RPKM 8.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of ELP5 impairs the integrity and stability of the Elongator complex to abrogate wobble U34 tRNA modification, and directly impedes the wobble U34 modification-dependent translation of hnRNPQ mRNA.
Title: Genome-wide CRISPR screen identifies ELP5 as a determinant of gemcitabine sensitivity in gallbladder cancer.
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.
cloning and characterization of the DERP6 gene, isolated from testis cDNA library; results indicate that the DERP6 may be involved in p53-mediated gene transcription
Title: Cloning and characterization of the human gene DERP6, which activates transcriptional activities of p53.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47392 (e-PCR)
- UniSTS:8460

D17S2159 (e-PCR)
- UniSTS:8461

RH102011 (e-PCR)
- UniSTS:96345

WIAF-2127 (e-PCR)
- UniSTS:3692

RH12882 (e-PCR)
- UniSTS:56988

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

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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)

NM_015362.5 → NP_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
NM_203413.3 → NP_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
NM_203414.3 → NP_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
NM_203415.4 → NP_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

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