ECEL1 - endothelin converting enzyme like 1 Gene

Also Known as XCE; DA5D; DINE; ECEX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9427

About ECEL1

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,479,827-232,487,834 (from NCBI)

This gene has 4 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in ovary (RPKM 52.2) and spleen (RPKM 2.2).

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]

ECEL1 Products (2)

mRNA	Protein	Name
NM_001290787.2	NP_001277716.1	endothelin-converting enzyme-like 1 isoform 2
NM_004826.4	NP_004817.2	endothelin-converting enzyme-like 1 isoform 1

ECEL1 Protein Structure

Peptidase_M13_N

Peptidase_M13

0
200
400
600
775 a.a.

Protein Preferred Names	Protein Names
endothelin-converting enzyme-like 1	X converting enzyme

Related Diseases

Diseases	Alias
Arthrogryposis, Distal, Type 5d	Distal Arthrogryposis Type 5d DA5D Distal Arthrogryposis Type 5 Without Ophthalmoparesis Distal Arthrogryposis Type 5 Without Ophthalmoplegia Arthrogryposis, Distal, 5d
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Primary Optic Atrophy
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Arthrogryposis, Distal, Type 2b3	DA2B3 Distal Arthrogryposis Type 2b3 Arthrogryposis, Distal, 2b3
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Orofaciodigital Syndrome X	OFD10 Orofaciodigital Syndrome With Fibular Aplasia Oral-Facial-Digital Syndrome With Fibular Aplasia Ofds X Oral-Facial-Digital Syndrome, Type X Orofaciodigital Syndrome 10 Ofd Syndrome 10 Ofds 10 Oral Facial Digital Syndrome 10 Oral Facial Digital Syndrome Type 10 Oral-Facial-Digital Syndrome 10 Orofaciodigital Syndrome Type Figuera Orofaciodigital Syndrome Type 10 Figuera Syndrome Oral-Facial-Digital Syndrome Type 10
Myasthenic Syndrome, Congenital, 4b, Fast-Channel	Congenital Myasthenic Syndrome 4b CMS4B Congenital Myasthenic Syndrome 4b Fast-Channel Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel
Tarp Syndrome	TARPS Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava Pierre Robin Sequence - Congenital Heart Defect - Talipes Pierre Robin Syndrome - Congenital Heart Defect - Talipes Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Simpson-Golabi-Behmel Syndrome, Type 1	Simpson-Golabi-Behmel Syndrome Type 1 Simpson-Golabi-Behmel Syndrome SGBS1 Golabi-Rosen Syndrome Simpson Dysmorphia Syndrome Sgbs Bulldog Syndrome Dgsx Sdys Dysplasia Gigantism Syndrome, X-Linked X-Linked Dysplasia Gigantism Syndrome Dgsx Golabi-Rosen Syndrome Sara Angers Syndrome Sgb Syndrome Mental Retardation-Overgrowth Syndrome Simpson Dysplasia Syndrome Simpson Syndrome Simpson-Golabi-Behmel Syndrome 1 Dysplasia Gigantism Syndrome X-Linked

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04135	ECEL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ECEL1	VGNC	VGNC:28304
Macaca mulatta	ECEL1	VGNC	VGNC:97762
Mus musculus	ECEL1	MGD	MGI:1343461
Rattus norvegicus	ECEL1	RGD	RGD:61806
Canis familiaris	ECEL1	VGNC	VGNC:40183
Felis catus	ECEL1	VGNC	VGNC:61708
Others	ECEL1	NCBI