Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9427
Gene name	Endothelin converting enzyme like 1
Gene symbol	ECEL1
Synonyms (NCBI Gene)	DA5DDINEECEXXCE
Chromosome	2
Chromosome location	2q37.1
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

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs117012322	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs149459910	C>T	Pathogenic	Coding sequence variant, stop gained
rs370167241	G>A	Pathogenic	Stop gained, coding sequence variant
rs532757890	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587776917	->T	Pathogenic	Stop gained, coding sequence variant
rs587776918	TCCAGGTTGGCG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587776919	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587776920	T>A	Pathogenic	Intron variant
rs587776921	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777129	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777130	G>C	Pathogenic	Stop gained, coding sequence variant
rs587777131	C>A,T	Pathogenic	Splice donor variant, intron variant
rs606231471	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs762979130	A>G,T	Pathogenic	Splice donor variant
rs764471983	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765430577	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs767987856	GCCAGGCCCACCCCCGGGCCGCGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853117	T>C	Pathogenic	Coding sequence variant, missense variant
rs878853118	CCCAT>AGC	Pathogenic	Frameshift variant, coding sequence variant
rs1057518181	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1190799930	G>A	Pathogenic	Stop gained, coding sequence variant
rs1229171141	G>A,C	Likely-pathogenic	Intron variant
rs1341894581	ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1356994386	T>A,C	Likely-pathogenic	Initiator codon variant, missense variant
rs1553566820	C>T	Likely-pathogenic	Intron variant
rs1553567402	->CAC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1553567411	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553567937	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575076514	C>T	Pathogenic	Splice donor variant
rs1575079032	C>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037252	hsa-miR-877-5p	CLASH	23622248
MIRT951666	hsa-miR-1913	CLIP-seq
MIRT951667	hsa-miR-214	CLIP-seq
MIRT951668	hsa-miR-324-3p	CLIP-seq
MIRT951669	hsa-miR-34a	CLIP-seq
MIRT951670	hsa-miR-34c-5p	CLIP-seq
MIRT951671	hsa-miR-3619-5p	CLIP-seq
MIRT951672	hsa-miR-3689d	CLIP-seq
MIRT951673	hsa-miR-4447	CLIP-seq
MIRT951674	hsa-miR-4459	CLIP-seq
MIRT951675	hsa-miR-4472	CLIP-seq
MIRT951676	hsa-miR-4488	CLIP-seq
MIRT951677	hsa-miR-449a	CLIP-seq
MIRT951678	hsa-miR-449b	CLIP-seq
MIRT951679	hsa-miR-4530	CLIP-seq
MIRT951680	hsa-miR-4676-5p	CLIP-seq
MIRT951681	hsa-miR-4697-5p	CLIP-seq
MIRT951682	hsa-miR-4706	CLIP-seq
MIRT951683	hsa-miR-4722-5p	CLIP-seq
MIRT951684	hsa-miR-4749-5p	CLIP-seq
MIRT951685	hsa-miR-4763-5p	CLIP-seq
MIRT951686	hsa-miR-486-3p	CLIP-seq
MIRT951687	hsa-miR-517a	CLIP-seq
MIRT951688	hsa-miR-517c	CLIP-seq
MIRT951689	hsa-miR-575	CLIP-seq
MIRT951690	hsa-miR-744	CLIP-seq
MIRT951691	hsa-miR-761	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003016	Process	Respiratory system process	IEA
GO:0003016	Process	Respiratory system process	ISS
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	9931490
GO:0006508	Process	Proteolysis	IEA
GO:0007218	Process	Neuropeptide signaling pathway	TAS	9931490
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	9931490
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
605896	3147	ENSG00000171551

O95672

Protein name

Endothelin-converting enzyme-like 1 (EC 3.4.24.-) (Xce protein)

Protein function

May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05649	Peptidase_M13_N	122 → 513	Peptidase family M13	Family
PF01431	Peptidase_M13	571 → 774	Peptidase family M13	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala,

Sequence

MEPPYSLTAHYDEFQEVKYVSRCGAGGARGASLPPGFPLGAARSATGARSGLPRWNRREV
CLLSGLVFAAGLCAILAAMLALKYLGPVAAGGGACPEGCPERKAFARAARFLAANLDASI
DPCQDFYSFACGGWLRRHAIPDDKLTYGTIAAIGEQNEERLRRLLARPGGGPGGAAQRKV
RAFFRSCLDMREIERLGPRPMLEVIEDCGGWDLGGAEERPGVAARWDLNRLLYKAQGVYS
AAALFSLTVSLDDRNSSRYVIRIDQDGLTLPERTLYLAQDEDSEKILAAYRVFMERVLSL
LGADAVEQKAQEILQVEQQLANITVSEHDDLRRDVSSMYNKVTLGQLQKITPHLRWKWLL
DQIFQEDFSEEEEVVLLATDYMQQVSQLIRSTPHRVLHNYLVWRVVVVLSEHLSPPFREA
LHELAQEMEGSDKPQELARVCLGQANRHFGMALGALFVHEHFSAASKAKVQQLVEDIKYI
LGQRLEELDWMDAETRAAARAKLQYMMVMVGYPDFLLKPDAVDKEYEFEVHEKTYFKNIL
NSIRFSIQLSVKKIRQEVDKSTWLLPPQALNAYYLPNKNQMVFPAGILQPTLYDPDFPQS
LNYGGIGTIIGHELTHGYDDWGGQYDRSGNLLHWWTEASYSRFLRKAECIVRLYDNFTVY
NQRVNGKHTLGENIADMGGLKLAYHAYQKWVREHGPEHPLPRLKYTHDQLFFIAFAQNWC
IKRRSQSIYLQVLTDKHAPEHYRVLGSVSQFEEFGRAFHCPKDSPMNPAHKCSVW

Sequence length

775

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Distal arthrogryposis type 5D	Pathogenic; Likely pathogenic	rs1421294063, rs587777129, rs587777130, rs587777131, rs1281396824, rs1370507095, rs2469642191, rs606231471, rs2469636612, rs146580059, rs762979130, rs1174232828, rs370167241, rs765430577, rs878853117 View all (25 more)	RCV001354049 RCV000087050 RCV000087051 RCV000087052 RCV002226924 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHROGRYPOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS, DISTAL, TYPE 5D	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECEL1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	25173900, 25708584, 26752647, 29663639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis	Pubtator	26752647, 32566668	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	23261301, 23829171, 25173900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Camptodactyly 1	Camptodactyly	Pubtator	23808592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	25708584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	23808592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	23261301, 23808592, 25708584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	25173900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	23808592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	23236030, 23261301, 23808592, 25099528, 29132416, 29663639		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 5D	Distal arthrogryposis	CLINVAR_DG	23236030, 23261301		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 5D	Distal arthrogryposis	UNIPROT_DG	23236030, 23261301, 23808592, 23829171		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 5D	Distal arthrogryposis	BEFREE	23261301, 23829171, 25099528, 28114145, 30131190		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 5D	Distal arthrogryposis	GENOMICS_ENGLAND_DG	23261301, 30131190		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 5D	Distal arthrogryposis	ORPHANET_DG	23261301		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 5D	Distal arthrogryposis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal arthrogryposis type 5D	Distal arthrogryposis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	25173900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23236030, 23261301, 24782201, 25099528, 25708584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31144171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30357652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	23236030, 23261301, 24782201, 25099528, 25708584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12632073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12632073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36794879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	25708584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26578207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomelic amyoplasia	Oculomelic Amyoplasia	BEFREE	30357652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	23808592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	23261301, 23829171, 25173900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	23178314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	23808592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	25173900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22529986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ECEL1 (endothelin converting enzyme like 1)