ECEL1 (endothelin converting enzyme like 1)

Gene

• Entrez ID: 9427
• Gene name: Endothelin converting enzyme like 1
• Gene symbol: ECEL1
• Synonyms: DA5D, DINE, ECEX, XCE
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003016	Process	Respiratory system process	ISS
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	TAS	9931490
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	9931490
GO:0016485	Process	Protein processing	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 605896
• HGNC: 3147
• e!Ensembl: ENSG00000171551

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 775

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Distal arthrogryposis	Distal arthrogryposis type 5D	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618	23236030, 23261301, 30131190, 23808592, 23829171
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	24782201, 25708584, 23261301, 23236030, 25099528
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism
Congenital camptodactyly	Congenital Camptodactyly
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		25099528, 23261301, 25708584, 24782201, 23236030
Elbow flexion contracture	Flexion contracture - elbow
High palate	Byzanthine arch palate
Micrognathism	Micrognathism
Ptosis	Blepharoptosis, Ptosis	rs139920573