ECEL1

Protein identityUniProt · HPA

UniProt accession

O95672

Gene

ECEL1

Ensembl

ENSG00000171551

Chromosome

2

Canonical length

775 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Nuclear membrane,Nucleoli

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

775 residues, UniProt reviewed canonical sequence.

>O95672|ECEL1
     1  MEPPYSLTAH YDEFQEVKYV SRCGAGGARG ASLPPGFPLG AARSATGARS GLPRWNRREV
    61  CLLSGLVFAA GLCAILAAML ALKYLGPVAA GGGACPEGCP ERKAFARAAR FLAANLDASI
   121  DPCQDFYSFA CGGWLRRHAI PDDKLTYGTI AAIGEQNEER LRRLLARPGG GPGGAAQRKV
   181  RAFFRSCLDM REIERLGPRP MLEVIEDCGG WDLGGAEERP GVAARWDLNR LLYKAQGVYS
   241  AAALFSLTVS LDDRNSSRYV IRIDQDGLTL PERTLYLAQD EDSEKILAAY RVFMERVLSL
   301  LGADAVEQKA QEILQVEQQL ANITVSEHDD LRRDVSSMYN KVTLGQLQKI TPHLRWKWLL
   361  DQIFQEDFSE EEEVVLLATD YMQQVSQLIR STPHRVLHNY LVWRVVVVLS EHLSPPFREA
   421  LHELAQEMEG SDKPQELARV CLGQANRHFG MALGALFVHE HFSAASKAKV QQLVEDIKYI
   481  LGQRLEELDW MDAETRAAAR AKLQYMMVMV GYPDFLLKPD AVDKEYEFEV HEKTYFKNIL
   541  NSIRFSIQLS VKKIRQEVDK STWLLPPQAL NAYYLPNKNQ MVFPAGILQP TLYDPDFPQS
   601  LNYGGIGTII GHELTHGYDD WGGQYDRSGN LLHWWTEASY SRFLRKAECI VRLYDNFTVY
   661  NQRVNGKHTL GENIADMGGL KLAYHAYQKW VREHGPEHPL PRLKYTHDQL FFIAFAQNWC
   721  IKRRSQSIYL QVLTDKHAPE HYRVLGSVSQ FEEFGRAFHC PKDSPMNPAH KCSVW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ECEL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

98 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ECEL1.

Disease | AllUniProt

Conditions ECEL1 is implicated in, by any mechanism.

• Arthrogryposis, distal, 5D (DA5D) MIM:615065

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 297 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Distal arthrogryposis type 5D
• See cases
• Inborn genetic diseases
• Arthrogryposis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.83

gnomAD pLI

0

gnomAD missense Z

0.48

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• neuropeptide signaling pathway
• protein processing
• respiratory system process

Molecular functions

• metal ion binding
• metalloendopeptidase activity
• metallopeptidase activity

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Peptidase M13
• Peptidase M13, N-terminal domain
• Peptidase M13, C-terminal domain
• Metallopeptidase, catalytic domain superfamily
• Peptidase M13, domain 2
• Peptidase family M13
• Peptidase family M13

KeywordsUniProt

• Disulfide bond
• Glycoprotein
• Hydrolase
• Membrane
• Metal-binding
• Metalloprotease
• Protease
• Signal-anchor
• Transmembrane
• Transmembrane helix
• Zinc