EEF1AKMT4-ECE2 (EEF1AKMT4-ECE2 readthrough)

Gene

• Entrez ID: 110599583
• Gene name: EEF1AKMT4-ECE2 readthrough
• Gene symbol: EEF1AKMT4-ECE2
• Synonyms (NCBI Gene): ECE-2, ECE2
• Chromosome: 3
• Chromosome location: 3q27.1
• 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 tra

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0003824	Function	Catalytic activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007420	Process	Brain development	ISS
GO:0007507	Process	Heart development	ISS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0010002	Process	Cardioblast differentiation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016486	Process	Peptide hormone processing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030658	Component	Transport vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032259	Process	Methylation	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: P0DPD8
• Protein name: EEF1AKMT4-ECE2 readthrough transcript protein (EC 3.4.24.71) [Includes: Methyltransferase-like region (EC 2.1.1.-); Endothelin-converting enzyme 2 region (EC 3.4.24.71)]
• Protein function: Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13649	Methyltransf_25	62 → 145	Methyltransferase domain	Domain
  PF05649	Peptidase_M13_N	234 → 620	Peptidase family M13	Family
  PF01431	Peptidase_M13	679 → 882	Peptidase family M13	Family

• Sequence:

  MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPED
  RILVLGCGNSALSYELFLGGFPNVTSVDYSSVVVAAMQARHAHVPQLRWETMDVRKLDFP
  SASFDVVLEKGTLDALLAGERDPWTVSSEGVHTVDQVLSEVGFQKGTRQLLGSRTQLELV
  LAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQ
  FSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCL
  QVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSK
  SSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQV
  LELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPV
  VVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKS
  CVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDE
  KTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMAD
  QLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGH
  ELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGE
  NIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGL
  VTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW

• Sequence length: 883

Pathways

Reactome:

Peptide ligand-binding receptors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	19541930	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17525706		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17525706		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28557628		★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1	Autoimmune polyendocrine syndrome type 1	Pubtator	28557628	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1	Autoimmune Polyendocrinopathy	BEFREE	28557628		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25526346	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28253288		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	17525706		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	28557628		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	28171705		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28171705		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	32207244	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	28557628		★☆☆☆☆ Found in Text Mining only