GenTIGS

Endothelin converting enzyme like 1 (ECEL1) Associated conditions: 1. Distal arthrogryposis type 5D

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001290787.2	NP_001277716.1	NC_000002.12	(232479826..232487833, complement)	Reference GRCh38.p14 Primary Assembly	O95672
2	REVIEWED	NM_004826.4	NP_004817.2	NC_000002.12	(232479826..232487833, complement)	Reference GRCh38.p14 Primary Assembly	O95672

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 131 reference articles

Variant Information Endothelin converting enzyme like 1 (ECEL1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Endothelin converting enzyme like 1 (ECEL1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Endothelin converting enzyme like 1 (ECEL1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISS	involved_in	respiratory system process	Process	-
2	Homo sapiens	IBA	enables	metalloendopeptidase activity	Function	21873635
3	Homo sapiens	IBA	is_active_in	plasma membrane	Component	21873635
4	Homo sapiens	TAS	involved_in	neuropeptide signaling pathway	Process	9931490
5	Homo sapiens	TAS	enables	metallopeptidase activity	Function	9931490
6	Homo sapiens	IBA	involved_in	protein processing	Process	21873635
7	Homo sapiens	IEA	enables	metal ion binding	Function	-