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

Gene ID: 54859, updated on 4-Jul-2021

Summary

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
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
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

See ELP6 in Genome Data Viewer
Location:
3p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (47495640..47513725, complement)
105.20201022 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 protein tyrosine phosphatase non-receptor type 23 Neighboring gene SREBF chaperone Neighboring gene uncharacterized LOC105377073 Neighboring gene bolA family member 2 pseudogene 2 Neighboring gene uncharacterized LOC105377074 Neighboring gene RNA, 7SL, cytoplasmic 870, pseudogene

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

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 tRNA wobble uridine modification IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
part_of elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001031703.3NP_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
    Related
    ENSP00000296149.4, ENST00000296149.9
    Conserved Domains (1) summary
    pfam09807
    Location:2251
    ELP6; Elongation complex protein 6
  2. NM_001363957.1NP_001350886.1  elongator complex protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099778
    Consensus CDS
    CCDS87073.1
    Related
    ENSP00000402399.1, ENST00000439305.5
    Conserved Domains (1) summary
    pfam09807
    Location:1178
    ELP6; Elongation complex protein 6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    47495640..47513725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265241.4XP_005265298.1  elongator complex protein 6 isoform X7

    Conserved Domains (1) summary
    pfam09807
    Location:7202
    ELP6; Elongation complex protein 6
  2. XM_017006669.1XP_016862158.1  elongator complex protein 6 isoform X4

  3. XM_024453608.1XP_024309376.1  elongator complex protein 6 isoform X6

    Conserved Domains (1) summary
    pfam09807
    Location:2234
    ELP6; Elongation complex protein 6
  4. XM_011533854.3XP_011532156.1  elongator complex protein 6 isoform X5

    See identical proteins and their annotated locations for XP_011532156.1

    Conserved Domains (1) summary
    pfam09807
    Location:7126
    ELP6; Elongation complex protein 6
  5. XM_011533856.3XP_011532158.1  elongator complex protein 6 isoform X5

    See identical proteins and their annotated locations for XP_011532158.1

    Conserved Domains (1) summary
    pfam09807
    Location:7126
    ELP6; Elongation complex protein 6
  6. XM_011533857.3XP_011532159.1  elongator complex protein 6 isoform X5

    See identical proteins and their annotated locations for XP_011532159.1

    Conserved Domains (1) summary
    pfam09807
    Location:7126
    ELP6; Elongation complex protein 6
  7. XM_011533853.3XP_011532155.1  elongator complex protein 6 isoform X3

    Conserved Domains (1) summary
    pfam09807
    Location:2158
    ELP6; Elongation complex protein 6
  8. XM_011533852.3XP_011532154.1  elongator complex protein 6 isoform X2

    Conserved Domains (1) summary
    pfam09807
    Location:16172
    ELP6; Elongation complex protein 6
  9. XM_011533851.3XP_011532153.1  elongator complex protein 6 isoform X1

    Conserved Domains (1) summary
    pfam09807
    Location:2175
    ELP6; Elongation complex protein 6

RNA

  1. XR_001740186.1 RNA Sequence

    Related
    ENST00000442215.6

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.
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