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EEF1AKMT4-ECE2 EEF1AKMT4-ECE2 readthrough [ Homo sapiens (human) ]

Gene ID: 110599583, updated on 22-Sep-2022

Summary

Official Symbol
EEF1AKMT4-ECE2provided by HGNC
Official Full Name
EEF1AKMT4-ECE2 readthroughprovided by HGNC
Primary source
HGNC:HGNC:53615
See related
Ensembl:ENSG00000284917 AllianceGenome:HGNC:53615
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
ECE2; ECE-2
Summary
This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2017]
Orthologs
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Genomic context

See EEF1AKMT4-ECE2 in Genome Data Viewer
Location:
3q27.1
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184249672..184293031)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187058960..187102316)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183967460..184010819)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene Sharpr-MPRA regulatory region 15257 Neighboring gene ALG3 alpha-1,3- mannosyltransferase Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene endothelin converting enzyme 2 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 2 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66

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

Pathways from PubChem

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-adenosylmethionine-dependent methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardioblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in transport vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
EEF1AKMT4-ECE2 readthrough transcript protein
Names
Endothelin-converting enzyme 2
NP_055508.3

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_014693.4NP_055508.3  EEF1AKMT4-ECE2 readthrough transcript protein

    See identical proteins and their annotated locations for NP_055508.3

    Status: VALIDATED

    Source sequence(s)
    AF428263, AY359003, BC142950, BU568980
    Related
    ENSP00000384223.3, ENST00000402825.7
    Conserved Domains (2) summary
    cd08662
    Location:232881
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    pfam13649
    Location:62128
    Methyltransf_25; Methyltransferase domain

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    184249672..184293031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    187058960..187102316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)