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

Gene ID: 9427, updated on 29-Jul-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232479827..232487834, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232966632..232974639, complement)
105.20220307 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

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. Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. Gowda M, et al. Clin Dysmorphol, 2021 Apr 1. PMID 33491998
  2. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. Stattin EL, et al. Am J Med Genet A, 2018 Jun. PMID 29663639
  3. ECEL1 mutation causes fetal arthrogryposis multiplex congenita. Dohrn N, et al. Am J Med Genet A, 2015 Apr. PMID 25708584
  4. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. Khan AO, et al. J AAPOS, 2014 Aug. PMID 25173900
  5. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. Shaheen R, et al. Clin Genet, 2014 Jun. PMID 23829171

See all (31) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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