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

Gene ID: 110599583, updated on 15-Mar-2024

Summary

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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
all
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Genomic context

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See EEF1AKMT4-ECE2 in Genome Data Viewer
Location:
3q27.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184249672..184293031)
RS_2023_10 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183965331-183966074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183966075-183966818 Neighboring gene microRNA 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20907 Neighboring gene ALG3 alpha-1,3- mannosyltransferase Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:183976879-183977065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977445-183977995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977996-183978547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183980433-183981195 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene endothelin converting enzyme 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14959 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184031817-184032317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184033042-184033663 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization. Lorenzo MN, et al. Biochim Biophys Acta, 2001 Nov 11. PMID 11718899
  2. Methylation of human eukaryotic elongation factor alpha (eEF1A) by a member of a novel protein lysine methyltransferase family modulates mRNA translation. Jakobsson ME, et al. Nucleic Acids Res, 2017 Aug 21. PMID 28520920, Free PMC Article
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

Pathways from PubChem

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General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
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
  
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
  
located_in transport vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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

    See identical proteins and their annotated locations for NP_055508.3

    Status: VALIDATED

    Source sequence(s)
    AC061705, AC078797
    UniProtKB/Swiss-Prot
    P0DPD8
    Related
    ENSP00000384223.3, ENST00000402825.7
    Conserved Domains (2) summary
    cd08662
    Location:232 → 881
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    pfam13649
    Location:62 → 128
    Methyltransf_25; Methyltransferase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DPD8.1 GenPept UniProtKB/Swiss-Prot:P0DPD8

Gene LinkOut

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Research Materials
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