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

111

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV002250925 RCV002285210 RCV000148953 RCV002466866 RCV002471964 RCV002470324 RCV002470360 RCV000192968 RCV000224050 RCV001260455 RCV001260454 RCV002790039 RCV003120268 RCV003152987 RCV003224953 RCV003234944 RCV003234949 RCV003234955 RCV003234963 RCV003314280 RCV003337845 RCV004594945 RCV000414781 RCV000500782 RCV000499873 RCV000501965 RCV000503413 RCV000032684 RCV000032685 RCV000032686 RCV000032687 RCV000032688 RCV000578278 RCV000722104 RCV000735426 RCV001007828 RCV001007795 RCV001007826
See cases	Pathogenic	rs370167241	RCV002252045

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity; Uncertain significance	rs765305996, rs1575074612	RCV000787365 RCV000787366
ECEL1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	rs138272112, rs149225442, rs191331240, rs1190429, rs139624409, rs1397958331, rs768312431, rs146818286, rs745360606, rs144709114, rs200522532, rs372170199, rs1324461714, rs1690731472, rs760203132 View all (8 more)	RCV003948462 RCV003956088 RCV003975019 RCV003891758 RCV003419198 RCV003893888 RCV003899151 RCV003959549 RCV003963978 RCV003954925 RCV003917132 RCV003954737 RCV003956734 RCV003983548 RCV003983712 RCV003916246 RCV003920517 RCV003908381 RCV004756085 RCV003923082 RCV003950659 RCV003923279 RCV004756115
Lymphoma	Benign; Likely benign	rs191331240	RCV005888069
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs76735188	RCV005888071
Uterine carcinosarcoma	Benign; Likely benign	rs191331240	RCV005888070

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthrogryposis	Associate	26752647, 32566668
Arthrogryposis multiplex congenita distal type 1	Associate	23808592, 36794879
Camptodactyly 1	Associate	23808592
Contracture	Associate	23808592
Knee Injuries	Associate	23808592
Neurodegenerative Diseases	Associate	36794879
Neuromuscular Diseases	Associate	26578207
Ophthalmoplegia	Associate	23808592
Refractive Errors	Associate	23808592
Sarcoma Endometrial Stromal	Associate	23178314
Scoliosis	Associate	23808592
Urinary Bladder Neoplasms	Associate	22529986

ECEL1 (endothelin converting enzyme like 1)