LOCUS       NM_004826               2871 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens endothelin converting enzyme like 1 (ECEL1),
            transcript variant 1, mRNA.
ACCESSION   NM_004826
VERSION     NM_004826.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2871)
  AUTHORS   Endrakanti,M., Sharma,J., Ethayathulla,A.S., Kaur,P., Khan,S.A.,
            Kabra,M. and Gupta,N.
  TITLE     ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report
            of recognizable musculoskeletal phenotype and a possible founder
            variant
  JOURNAL   Am J Med Genet A 194 (8), e63592 (2024)
   PUBMED   38568023
  REMARK    GeneRIF: ECEL1 related distal arthrogryposis 5D in an Indian
            cohort-Report of recognizable musculoskeletal phenotype and a
            possible founder variant.
REFERENCE   2  (bases 1 to 2871)
  AUTHORS   Gowda,M., Mohan,S., Ramesh,D. and Chinta,N.
  TITLE     Distal arthrogryposis type 5D in a South Indian family caused by
            novel deletion in ECEL1 gene
  JOURNAL   Clin Dysmorphol 30 (2), 100-103 (2021)
   PUBMED   33491998
  REMARK    GeneRIF: Distal arthrogryposis type 5D in a South Indian family
            caused by novel deletion in ECEL1 gene.
            Review article
REFERENCE   3  (bases 1 to 2871)
  AUTHORS   Stattin,E.L., Johansson,J., Gudmundsson,S., Ameur,A., Lundberg,S.,
            Bondeson,M.L. and Wilbe,M.
  TITLE     A novel ECEL1 mutation expands the phenotype of distal
            arthrogryposis multiplex congenita type 5D to include pretibial
            vertical skin creases
  JOURNAL   Am J Med Genet A 176 (6), 1405-1410 (2018)
   PUBMED   29663639
  REMARK    GeneRIF: A novel ECEL1 homozygote mutation in the patient with
            distal arthrogryposis multiplex congenita type 5D to include
            pretibial vertical skin creases.
REFERENCE   4  (bases 1 to 2871)
  AUTHORS   Dieterich,K., Quijano-Roy,S., Monnier,N., Zhou,J., Faure,J.,
            Smirnow,D.A., Carlier,R., Laroche,C., Marcorelles,P., Mercier,S.,
            Megarbane,A., Odent,S., Romero,N., Sternberg,D., Marty,I.,
            Estournet,B., Jouk,P.S., Melki,J. and Lunardi,J.
  TITLE     The neuronal endopeptidase ECEL1 is associated with a distinct form
            of recessive distal arthrogryposis
  JOURNAL   Hum Mol Genet 22 (8), 1483-1492 (2013)
   PUBMED   23236030
  REMARK    GeneRIF: We described a new and homogenous phenotype of DA
            associated with ECEL1 that resulted in symptoms involving rather
            the peripheral than the central nervous system and suggesting a
            developmental dysfunction
REFERENCE   5  (bases 1 to 2871)
  AUTHORS   McMillin,M.J., Below,J.E., Shively,K.M., Beck,A.E.,
            Gildersleeve,H.I., Pinner,J., Gogola,G.R., Hecht,J.T., Grange,D.K.,
            Harris,D.J., Earl,D.L., Jagadeesh,S., Mehta,S.G., Robertson,S.P.,
            Swanson,J.M., Faustman,E.M., Mefford,H.C., Shendure,J.,
            Nickerson,D.A. and Bamshad,M.J.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Mutations in ECEL1 cause distal arthrogryposis type 5D
  JOURNAL   Am J Hum Genet 92 (1), 150-156 (2013)
   PUBMED   23261301
  REMARK    GeneRIF: Mutations in ECEL1 cause distal arthrogryposis type 5D.
REFERENCE   6  (bases 1 to 2871)
  AUTHORS   Benoit,A., Vargas,M.A., Desgroseillers,L. and Boileau,G.
  TITLE     Endothelin-converting enzyme-like 1 (ECEL1) is present both in the
            plasma membrane and in the endoplasmic reticulum
  JOURNAL   Biochem J 380 (Pt 3), 881-888 (2004)
   PUBMED   14992683
REFERENCE   7  (bases 1 to 2871)
  AUTHORS   Kawamoto,T., Ohira,M., Hamano,S., Hori,T. and Nakagawara,A.
  TITLE     High expression of the novel endothelin-converting enzyme genes,
            Nbla03145/ECEL1alpha and beta, is associated with favorable
            prognosis in human neuroblastomas
  JOURNAL   Int J Oncol 22 (4), 815-822 (2003)
   PUBMED   12632073
REFERENCE   8  (bases 1 to 2871)
  AUTHORS   Rump,A., Kasper,G., Hayes,C., Wen,G., Starke,H., Liehr,T.,
            Lehmann,R., Lagemann,D. and Rosenthal,A.
  TITLE     Complex arrangement of genes within a 220-kb region of
            double-duplicated DNA on human 2q37.1
  JOURNAL   Genomics 73 (1), 50-55 (2001)
   PUBMED   11352565
REFERENCE   9  (bases 1 to 2871)
  AUTHORS   Valdenaire,O., Rohrbacher,E., Langeveld,A., Schweizer,A. and
            Meijers,C.
  TITLE     Organization and chromosomal localization of the human ECEL1 (XCE)
            gene encoding a zinc metallopeptidase involved in the nervous
            control of respiration
  JOURNAL   Biochem J 346 Pt 3 (Pt 3), 611-616 (2000)
   PUBMED   10698686
REFERENCE   10 (bases 1 to 2871)
  AUTHORS   Valdenaire,O., Richards,J.G., Faull,R.L. and Schweizer,A.
  TITLE     XCE, a new member of the endothelin-converting enzyme and neutral
            endopeptidase family, is preferentially expressed in the CNS
  JOURNAL   Brain Res Mol Brain Res 64 (2), 211-221 (1999)
   PUBMED   9931490
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092165.4 and BC050453.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004826.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC050453.1, AY358923.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304546.6/ ENSP00000302051.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AC092165.4         16896-16901         c
            7-1198              BC050453.1         1-1192
            1199-1199           AC092165.4         13945-13945         c
            1200-2871           BC050453.1         1194-2865
FEATURES             Location/Qualifiers
     source          1..2871
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2871
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /note="endothelin converting enzyme like 1"
                     /db_xref="GeneID:9427"
                     /db_xref="HGNC:HGNC:3147"
                     /db_xref="MIM:605896"
     exon            1..116
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            117..1003
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..2545
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /EC_number="3.4.24.11"
                     /note="isoform 1 is encoded by transcript variant 1; X
                     converting enzyme; damage induced neuronal endopeptidase"
                     /codon_start=1
                     /product="endothelin-converting enzyme-like 1 isoform 1"
                     /protein_id="NP_004817.2"
                     /db_xref="CCDS:CCDS2493.1"
                     /db_xref="GeneID:9427"
                     /db_xref="HGNC:HGNC:3147"
                     /db_xref="MIM:605896"
                     /translation="MEPPYSLTAHYDEFQEVKYVSRCGAGGARGASLPPGFPLGAARS
                     ATGARSGLPRWNRREVCLLSGLVFAAGLCAILAAMLALKYLGPVAAGGGACPEGCPER
                     KAFARAARFLAANLDASIDPCQDFYSFACGGWLRRHAIPDDKLTYGTIAAIGEQNEER
                     LRRLLARPGGGPGGAAQRKVRAFFRSCLDMREIERLGPRPMLEVIEDCGGWDLGGAEE
                     RPGVAARWDLNRLLYKAQGVYSAAALFSLTVSLDDRNSSRYVIRIDQDGLTLPERTLY
                     LAQDEDSEKILAAYRVFMERVLSLLGADAVEQKAQEILQVEQQLANITVSEHDDLRRD
                     VSSMYNKVTLGQLQKITPHLRWKWLLDQIFQEDFSEEEEVVLLATDYMQQVSQLIRST
                     PHRVLHNYLVWRVVVVLSEHLSPPFREALHELAQEMEGSDKPQELARVCLGQANRHFG
                     MALGALFVHEHFSAASKAKVQQLVEDIKYILGQRLEELDWMDAETRAAARAKLQYMMV
                     MVGYPDFLLKPDAVDKEYEFEVHEKTYFKNILNSIRFSIQLSVKKIRQEVDKSTWLLP
                     PQALNAYYLPNKNQMVFPAGILQPTLYDPDFPQSLNYGGIGTIIGHELTHGYDDWGGQ
                     YDRSGNLLHWWTEASYSRFLRKAECIVRLYDNFTVYNQRVNGKHTLGENIADMGGLKL
                     AYHAYQKWVREHGPEHPLPRLKYTHDQLFFIAFAQNWCIKRRSQSIYLQVLTDKHAPE
                     HYRVLGSVSQFEEFGRAFHCPKDSPMNPAHKCSVW"
     exon            1004..1072
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1183
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1276
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1401
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1624
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..1723
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1724..1798
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..1902
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1903..1961
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..2013
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            2014..2081
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            2082..2206
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            2207..2272
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            2273..2368
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            2369..2445
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     exon            2446..2871
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2853..2858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /note="hexamer: AATAAA"
     polyA_site      2871
                     /gene="ECEL1"
                     /gene_synonym="DA5D; DINE; ECEX; XCE"
                     /note="major polyA site"
ORIGIN      
        1 agaggaggcg gcgggcgctg ggagacaccg gacgcccgct cggctgcgct gcggctcagg
       61 cccccgctcg ggcccgaccc gctcggtcac cgccggctcg ggcgcgcacc tgccggctgc
      121 ggccccaggg ccatgcggag gcccacgagg aggccggcgg ccacgcgcat cccgtagccc
      181 aggtggccca ggtctgcacc gcggcggcct cggcgccatg gagcccccgt attcgctgac
      241 ggcgcactac gatgagttcc aagaggtcaa gtacgtgagc cgctgcggcg cggggggcgc
      301 gcgcggggcc tccctgcccc cgggcttccc gttgggcgct gcgcgcagcg ccaccggggc
      361 ccggtccggg ctgccgcgct ggaaccggcg cgaggtgtgc ctgctgtcgg ggctggtgtt
      421 cgccgccggc ctctgcgcca ttctggcggc tatgctggcc ctcaagtacc tgggcccggt
      481 cgcggccggc ggcggcgcct gtcccgaggg ctgccctgag cgcaaggcct tcgcgcgcgc
      541 cgctcgcttc ctggccgcca acctggacgc cagcatcgac ccatgccagg acttctactc
      601 gttcgcctgc ggcggttggc tgcggcgcca cgccatcccc gacgacaagc tcacctatgg
      661 caccatcgcg gccatcggcg agcaaaacga ggagcgccta cggcgcctgc tggcgcggcc
      721 cgggggtggg cctggcggcg cggcccagcg caaggtgcgc gccttcttcc gctcgtgcct
      781 cgacatgcgc gagatcgagc gactgggccc gcgacccatg ctagaggtca tcgaggactg
      841 cgggggctgg gacctgggcg gcgcggagga gcgtccgggg gtcgcggcgc gatgggacct
      901 caaccggctg ctgtacaagg cgcagggcgt gtacagcgcc gccgcgctct tctcgctcac
      961 ggtcagcctg gacgacagga actcctcgcg ctacgtcatc cgcattgacc aggatgggct
     1021 caccctgcca gagaggaccc tgtacctcgc tcaggatgag gacagtgaga agatcctggc
     1081 agcatacagg gtgttcatgg agcgagtgct cagcctcctg ggtgcagacg ctgtggaaca
     1141 gaaggcccaa gagatcctgc aagtggagca gcagctggcc aacatcactg tgtcagagca
     1201 tgacgaccta cggcgagatg tcagctccat gtacaacaag gtgacgctgg ggcagctgca
     1261 gaagatcacc ccccacttgc ggtggaagtg gctgctagac cagatcttcc aggaggactt
     1321 ctcagaggaa gaggaggtgg tgctgctggc gacagactac atgcagcagg tgtcgcagct
     1381 catccgctcc acaccccacc gggtcctgca caactacctg gtgtggcgcg tggtggtggt
     1441 cctgagtgaa cacctgtccc cgccattccg tgaggcactg cacgagctgg cacaggagat
     1501 ggagggcagc gacaagccac aggagctggc ccgggtctgc ttgggccagg ccaatcgcca
     1561 ctttggcatg gcgcttggcg ccctctttgt acatgagcac ttctcagctg ccagcaaagc
     1621 caaggtgcag cagctagtgg aagacatcaa gtacatcctg ggccagcgcc tggaggagct
     1681 ggactggatg gacgccgaga ccagggctgc tgctcgggcc aagctccagt acatgatggt
     1741 gatggtcggc tacccggact tcctgctgaa acccgatgct gtggacaagg agtatgagtt
     1801 tgaggtccat gagaagacct acttcaagaa catcttgaac agcatccgct tcagcatcca
     1861 gctctcagtt aagaagattc ggcaggaggt ggacaagtcc acgtggctgc tccccccaca
     1921 ggcgctcaat gcctactatc tacccaacaa gaaccagatg gtgttccccg cgggcatcct
     1981 gcagcccacc ctgtacgacc ctgacttccc acagtctctc aactacgggg gcatcggcac
     2041 catcattgga catgagctga cccacggcta cgacgactgg gggggccagt atgaccgctc
     2101 agggaacctg ctgcactggt ggacggaggc ctcctacagc cgcttcctgc gaaaggctga
     2161 gtgcatcgtc cgtctctatg acaacttcac tgtctacaac cagcgggtga acgggaaaca
     2221 cacgcttggg gagaacatcg cagatatggg cggcctcaag ctggcctacc acgcctatca
     2281 gaagtgggtg cgggagcacg gcccagagca cccacttccc cggctcaagt acacacatga
     2341 ccagctcttc ttcattgcct ttgcccagaa ctggtgcatc aagcggcggt cgcagtccat
     2401 ctacctgcag gtgctgactg acaagcatgc ccctgagcac tacagggtgc tgggcagtgt
     2461 gtcccagttt gaggagtttg gccgggcttt ccactgtccc aaggactcac ccatgaaccc
     2521 tgcccacaag tgttccgtgt ggtgagcctg gctgcccgcc tgcacgcccc cactgccccc
     2581 gcacgaatca cctcctgctg gctaccgggg caggcatgca cccggtgcca gccccgctct
     2641 gggcaccacc tgccttccag cccctccagg acccggtccc cctgctgccc ctcacttcag
     2701 gaggggcctg gagcagggtg aggctggact ttggggggct gtgagggaaa tatactgggg
     2761 tccccagatt ctgctctaag ggggccagac cctctgccag gctggattgt acgggcccca
     2821 ccttcgctgt gttcttgctg caaagtctgg tcaataaatc actgcactgt t
//
