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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita.
Title: ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
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.
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.
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.
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.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Title: Mutations in ECEL1 cause distal arthrogryposis type 5D.
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.

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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	not available

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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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

EC 3.4.24.11

NP_004817.2

EC 3.4.24.11

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

NG_034065.1 RefSeqGene

Range

5026..13033

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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