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

    Gene ID: 9427, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant. Endrakanti M, et al. Am J Med Genet A, 2024 Aug. PMID 38568023
    2. High expression of the novel endothelin-converting enzyme genes, Nbla03145/ECEL1alpha and beta, is associated with favorable prognosis in human neuroblastomas. Kawamoto T, et al. Int J Oncol, 2003 Apr. PMID 12632073
    3. Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum. Benoit A, et al. Biochem J, 2004 Jun 15. PMID 14992683, Free PMC Article
    4. Dynamic changes in the secondary structure of ECE-1 and XCE account for their different substrate specificities. Ul-Haq Z, et al. BMC Bioinformatics, 2012 Nov 1. PMID 23113990, Free PMC Article
    5. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Dieterich K, et al. Hum Mol Genet, 2013 Apr 15. PMID 23236030

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
      Title: ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
    2. Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
      Title: Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
    3. A novel ECEL1 homozygote mutation in the patient with distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
      Title: A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
    4. Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita.
      Title: ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
    5. Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis)
      Title: The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
    6. Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D.
      Title: Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
    7. A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes.
      Title: Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
    8. We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction
      Title: The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
    9. Mutations in ECEL1 cause distal arthrogryposis type 5D.
      Title: Mutations in ECEL1 cause distal arthrogryposis type 5D.
    10. Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene
      Title: Neuronal injury-inducible gene is synergistically regulated by ATF3, c-Jun, and STAT3 through the interaction with Sp1 in damaged neurons.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Distal arthrogryposis type 5D
    MedGen: C3554415 OMIM: 615065 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    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 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

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    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)

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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.

    Genomic

    1. NG_034065.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001290787.2 → NP_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:120 → 771
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:115 → 764
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    2. NM_004826.4 → NP_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:120 → 773
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95672.3 GenPept UniProtKB/Swiss-Prot:O95672

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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