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ECEL1 endothelin converting enzyme like 1 [ Homo sapiens (human) ]

Gene ID: 9427, updated on 10-Dec-2019

Summary

Official Symbol
ECEL1provided by HGNC
Official Full Name
endothelin converting enzyme like 1provided by HGNC
Primary source
HGNC:HGNC:3147
See related
Ensembl:ENSG00000171551 MIM:605896
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
XCE; DA5D; DINE; ECEX
Summary
This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression
Biased expression in ovary (RPKM 52.2) and spleen (RPKM 2.2) See more
Orthologs

Genomic context

See ECEL1 in Genome Data Viewer
Location:
2q37.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (232479827..232487834, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233344537..233352532, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DIS3 like 3'-5' exoribonuclease 2 pseudogene 1 Neighboring gene alkaline phosphatase, intestinal Neighboring gene serine protease 56 Neighboring gene cholinergic receptor nicotinic delta subunit

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
respiratory system process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
endothelin-converting enzyme-like 1
Names
X converting enzyme
damage induced neuronal endopeptidase

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034065.1 RefSeqGene

    Range
    5026..13033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290787.2NP_001277716.1  endothelin-converting enzyme-like 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AC092165, BC050453, DQ114476
    Consensus CDS
    CCDS77540.1
    UniProtKB/Swiss-Prot
    O95672
    Related
    ENSP00000386333.1, ENST00000409941.1
    Conserved Domains (2) summary
    cd08662
    Location:120771
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:115764
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. NM_004826.4NP_004817.2  endothelin-converting enzyme-like 1 isoform 1

    See identical proteins and their annotated locations for NP_004817.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092165, BC050453
    Consensus CDS
    CCDS2493.1
    UniProtKB/Swiss-Prot
    O95672
    Related
    ENSP00000302051.1, ENST00000304546.6
    Conserved Domains (2) summary
    cd08662
    Location:120773
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:115766
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    232479827..232487834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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