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

    Gene ID: 9427, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:3147
    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
    NEW
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    Genomic context

    See ECEL1 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232479827..232487834, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232966632..232974639, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233344537..233352544, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233308216-233308853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233310961-233311462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233311463-233311962 Neighboring gene DIS3 like 3'-5' exoribonuclease 2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233313077-233313828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233314581-233315330 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:233316054-233316566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233316567-233317078 Neighboring gene alkaline phosphatase, intestinal Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:233341661-233342160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233350591-233351198 Neighboring gene uncharacterized LOC124906124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233357377-233358197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233358198-233359017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233361686-233362491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233388351-233388860 Neighboring gene serine protease 56

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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 metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in neuropeptide signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in respiratory system process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    endothelin-converting enzyme-like 1
    Names
    X converting enzyme
    damage induced neuronal endopeptidase
    NP_001277716.1
    NP_004817.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q45UD9, Q53RF9, Q6UW86, Q86TH4, Q9NY95
      UniProtKB/TrEMBL
      A0A6F7YIA8
      Related
      ENSP00000302051.1, ENST00000304546.6
      Conserved Domains (1) summary
      cd08662
      Location:120773
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      232966632..232974639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)