LOCUS       NM_033467               2879 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens membrane metalloendopeptidase like 1 (MMEL1), mRNA.
ACCESSION   NM_033467
VERSION     NM_033467.4
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 2879)
  AUTHORS   Yazdanpanah,M., Jalilian,N., Abdollah Zadeh,R., Sahraian,M.A. and
            Noori-Daloii,M.R.
  TITLE     Investigating the association of polymorphisms of ANKRD55 and MMEL1
            with susceptibility to multiple sclerosis in Iranian population
  JOURNAL   Int J Neurosci 132 (10), 1037-1042 (2022)
   PUBMED   33491520
  REMARK    GeneRIF: Investigating the association of polymorphisms of ANKRD55
            and MMEL1 with susceptibility to multiple sclerosis in Iranian
            population.
REFERENCE   2  (bases 1 to 2879)
  AUTHORS   Ul-Haq,Z., Usmani,S., Iqbal,S. and Zia,S.R.
  TITLE     In silico based investigation of dynamic variations in neprilysin
            (NEP and NEP2) proteins for extracting the point of specificity
  JOURNAL   Mol Biosyst 12 (3), 1024-1036 (2016)
   PUBMED   26846903
  REMARK    GeneRIF: the dynamic behavior of human NEP and NEP2 proteins was
            monitored by conducting molecular dynamics (MD) simulations.
REFERENCE   3  (bases 1 to 2879)
  AUTHORS   Saadah,O.I., Shaik,N.A., Banaganapalli,B., Salama,M.A.,
            Al-Harthi,S.E., Wang,J., Shawoosh,H.A., Alghamdi,S.A.,
            Bin-Taleb,Y.Y., Alhussaini,B.H., Elango,R. and Al-Aama,J.Y.
  TITLE     Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential
            Susceptibility Locus among Saudi Arabian Celiac Disease Patients
  JOURNAL   Dis Markers 2015, 351673 (2015)
   PUBMED   26843707
  REMARK    GeneRIF: MMEL1 518 Met/Thr polymorphism contributes to celiac
            disease risk among Saudi Arabians, both in single and also in
            synergistic cooperation with SH2B3 gene marker.
REFERENCE   4  (bases 1 to 2879)
  AUTHORS   Orozco,G., Viatte,S., Bowes,J., Martin,P., Wilson,A.G.,
            Morgan,A.W., Steer,S., Wordsworth,P., Hocking,L.J., Barton,A.,
            Worthington,J. and Eyre,S.
  CONSRTM   UK Rheumatoid Arthritis Genetics Consortium; Wellcome Trust Case
            Control Consortium; Biologics in Rheumatoid Arthritis Genetics and
            Genomics Study Syndicate Consortium
  TITLE     Novel rheumatoid arthritis susceptibility locus at 22q12 identified
            in an extended UK genome-wide association study
  JOURNAL   Arthritis Rheumatol 66 (1), 24-30 (2014)
   PUBMED   24449572
REFERENCE   5  (bases 1 to 2879)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   6  (bases 1 to 2879)
  AUTHORS   Raychaudhuri,S., Remmers,E.F., Lee,A.T., Hackett,R., Guiducci,C.,
            Burtt,N.P., Gianniny,L., Korman,B.D., Padyukov,L., Kurreeman,F.A.,
            Chang,M., Catanese,J.J., Ding,B., Wong,S., van der Helm-van
            Mil,A.H., Neale,B.M., Coblyn,J., Cui,J., Tak,P.P., Wolbink,G.J.,
            Crusius,J.B., van der Horst-Bruinsma,I.E., Criswell,L.A.,
            Amos,C.I., Seldin,M.F., Kastner,D.L., Ardlie,K.G., Alfredsson,L.,
            Costenbader,K.H., Altshuler,D., Huizinga,T.W., Shadick,N.A.,
            Weinblatt,M.E., de Vries,N., Worthington,J., Seielstad,M.,
            Toes,R.E., Karlson,E.W., Begovich,A.B., Klareskog,L.,
            Gregersen,P.K., Daly,M.J. and Plenge,R.M.
  TITLE     Common variants at CD40 and other loci confer risk of rheumatoid
            arthritis
  JOURNAL   Nat Genet 40 (10), 1216-1223 (2008)
   PUBMED   18794853
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2879)
  AUTHORS   Whyteside,A.R. and Turner,A.J.
  TITLE     Human neprilysin-2 (NEP2) and NEP display distinct subcellular
            localisations and substrate preferences
  JOURNAL   FEBS Lett 582 (16), 2382-2386 (2008)
   PUBMED   18539150
  REMARK    GeneRIF: NEP2 substrate specificity and inhibitor binding was
            distinct from that of human NEP, suggesting that NEP and NEP2 play
            distinct physiological roles in humans.
REFERENCE   8  (bases 1 to 2879)
  AUTHORS   Carpentier,M., Guillemette,C., Bailey,J.L., Boileau,G.,
            Jeannotte,L., DesGroseillers,L. and Charron,J.
  TITLE     Reduced fertility in male mice deficient in the zinc
            metallopeptidase NL1
  JOURNAL   Mol Cell Biol 24 (10), 4428-4437 (2004)
   PUBMED   15121861
REFERENCE   9  (bases 1 to 2879)
  AUTHORS   Bonvouloir,N., Lemieux,N., Crine,P., Boileau,G. and
            DesGroseillers,L.
  TITLE     Molecular cloning, tissue distribution, and chromosomal
            localization of MMEL2, a gene coding for a novel human member of
            the neutral endopeptidase-24.11 family
  JOURNAL   DNA Cell Biol 20 (8), 493-498 (2001)
   PUBMED   11560781
REFERENCE   10 (bases 1 to 2879)
  AUTHORS   Ikeda,K., Emoto,N., Raharjo,S.B., Nurhantari,Y., Saiki,K.,
            Yokoyama,M. and Matsuo,M.
  TITLE     Molecular identification and characterization of novel
            membrane-bound metalloprotease, the soluble secreted form of which
            hydrolyzes a variety of vasoactive peptides
  JOURNAL   J Biol Chem 274 (45), 32469-32477 (1999)
   PUBMED   10542292
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB089501.1, BC101027.2,
            AF336981.1, AK093058.1 and AL139246.21.
            
            On Nov 23, 2018 this sequence version replaced NM_033467.3.
            
            Summary: The protein encoded by this gene is a member of the
            neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME)
            family. Family members play important roles in pain perception,
            arterial pressure regulation, phosphate metabolism and homeostasis.
            This protein is a type II transmembrane protein and is thought to
            be expressed as a secreted protein. This gene is expressed mainly
            in testis with weak expression in the brain, kidney, and heart.
            [provided by RefSeq, Jul 2008].
            
            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 :: AK093058.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378412.8/ ENSP00000367668.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-230               DB089501.1         27-256
            231-2564            BC101027.2         53-2386
            2565-2741           AF336981.1         2414-2590
            2742-2876           AK093058.1         2716-2850
            2877-2879           AL139246.21        143829-143831       c
FEATURES             Location/Qualifiers
     source          1..2879
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..2879
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /note="membrane metalloendopeptidase like 1"
                     /db_xref="GeneID:79258"
                     /db_xref="HGNC:HGNC:14668"
                     /db_xref="MIM:618104"
     exon            1..151
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            152..342
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..2528
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /EC_number="3.4.24.11"
                     /note="zinc metallopeptidase; soluble secreted
                     endopeptidase; membrane metallo-endopeptidase-like 2;
                     neprilysin-2; NEP2(m); neprilysin II"
                     /codon_start=1
                     /product="membrane metallo-endopeptidase-like 1"
                     /protein_id="NP_258428.2"
                     /db_xref="CCDS:CCDS30569.2"
                     /db_xref="GeneID:79258"
                     /db_xref="HGNC:HGNC:14668"
                     /db_xref="MIM:618104"
                     /translation="MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALG
                     VLYADRRGKQLPRLASRLCFLQEERTFVKRKPRGIPEAQEVSEVCTTPGCVIAAARIL
                     QNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFDVLRDELEVILKAVLENSTAK
                     DRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWPVAMDRWNETVGLEWELER
                     QLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREA
                     YLQFMVSVATLLREDANLPRDSCLVQEDMVQVLELETQLAKATVPQEERHDVIALYHR
                     MGLEELQSQFGLKGFNWTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSA
                     RTIQNYLVWRLVLDRIGSLSQRFKDTRVNYRKALFGTMVEEVRWRECVGYVNSNMENA
                     VGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMDEESKKKAQEKAMSIREQI
                     GHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVDPNLWII
                     GAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQALNFGGIGMVIGHEITHGFDDNGR
                     NFDKNGNMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNG
                     GVRQAYKAYLKWMAEGGKDQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDV
                     HSPLKYRVLGSLQNLAAFADTFHCARGTPMHPKERCRVW"
     exon            343..420
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            421..480
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            481..642
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            643..723
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            724..819
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            820..938
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1004
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1139
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1229
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1366
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1460
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1589
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1688
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1772
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1773..1876
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..1935
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2055
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            2056..2189
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            2190..2255
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            2256..2351
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            2352..2428
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     exon            2429..2879
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2861..2866
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /note="hexamer: AGTAAA"
     polyA_site      2879
                     /gene="MMEL1"
                     /gene_synonym="MMEL2; NEP2; NEPII; NL1; NL2; SEP"
                     /note="major polyA site"
ORIGIN      
        1 aggcagcctc aactcagccc caagccactg ctctcccatc ccagtccctg gaaatccacc
       61 cacttggccc agctcacccc aactccaacc cactgggacc cagtctccag gggcctgact
      121 gtgggcggca gccactcctg agtgagcaaa ggttcctccg cggtgctctc ccgtccagag
      181 ccctgctgat ggggaagtcc gaaggcccag tggggatggt ggagagcgcc ggccgtgcag
      241 ggcagaagcg cccggggttc ctggaggggg ggctgctgct gctgctgctg ctggtgaccg
      301 ctgccctggt ggccttgggt gtcctctacg ccgaccgcag agggaagcag ctgccacgcc
      361 ttgctagccg gctgtgcttc ttacaggagg agaggacctt tgtaaaacga aaaccccgag
      421 ggatcccaga ggcccaagag gtgagcgagg tctgcaccac ccctggctgc gtgatagcag
      481 ctgccaggat cctccagaac atggacccga ccacggaacc gtgtgacgac ttctaccagt
      541 ttgcatgcgg aggctggctg cggcgccacg tgatccctga gaccaactca agatacagca
      601 tctttgacgt cctccgcgac gagctggagg tcatcctcaa agcggtgctg gagaattcga
      661 ctgccaagga ccggccggct gtggagaagg ccaggacgct gtaccgctcc tgcatgaacc
      721 agagtgtgat agagaagcga ggctctcagc ccctgctgga catcttggag gtggtgggag
      781 gctggccggt ggcgatggac aggtggaacg agaccgtagg actcgagtgg gagctggagc
      841 ggcagctggc gctgatgaac tcacagttca acaggcgcgt cctcatcgac ctcttcatct
      901 ggaacgacga ccagaactcc agccggcaca tcatctacat agaccagccc accttgggca
      961 tgccctcccg agagtactac ttcaacggcg gcagcaaccg gaaggtgcgg gaagcctacc
     1021 tgcagttcat ggtgtcagtg gccacgttgc tgcgggagga tgcaaacctg cccagggaca
     1081 gctgcctggt gcaggaggac atggtgcagg tgctggagct ggagacacag ctggccaagg
     1141 ccacggtacc ccaggaggag agacacgacg tcatcgcctt gtaccaccgg atgggactgg
     1201 aggagctgca aagccagttt ggcctgaagg gatttaactg gactctgttc atacaaactg
     1261 tgctatcctc tgtcaaaatc aagctgctgc cagatgagga agtggtggtc tatggcatcc
     1321 cctacctgca gaaccttgaa aacatcatcg acacctactc agccaggacc atacagaact
     1381 acctggtctg gcgcctggtg ctggaccgca ttggtagcct aagccagaga ttcaaggaca
     1441 cacgagtgaa ctaccgcaag gcgctgtttg gcacaatggt ggaggaggtg cgctggcgtg
     1501 aatgtgtggg ctacgtcaac agcaacatgg agaacgccgt gggctccctc tacgtcaggg
     1561 aggcgttccc tggagacagc aagagcatgg tcagagaact cattgacaag gtgcggacag
     1621 tgtttgtgga gacgctggac gagctgggct ggatggacga ggagtccaag aagaaggcgc
     1681 aggagaaggc catgagcatc cgggagcaga tcgggcaccc tgactacatc ctggaggaga
     1741 tgaacaggcg cctggacgag gagtactcca atctgaactt ctcagaggac ctgtactttg
     1801 agaacagtct gcagaacctc aaggtgggcg cccagcggag cctcaggaag cttcgggaaa
     1861 aggtggaccc aaatctctgg atcatcgggg cggcggtggt caatgcgttc tactccccaa
     1921 accgaaacca gattgtattc cctgccggga tcctccagcc ccccttcttc agcaaggagc
     1981 agccacaggc cttgaacttt ggaggcattg ggatggtgat cgggcacgag atcacgcacg
     2041 gctttgacga caatggccgg aacttcgaca agaatggcaa catgatggat tggtggagta
     2101 acttctccac ccagcacttc cgggagcagt cagagtgcat gatctaccag tacggcaact
     2161 actcctggga cctggcagac gaacagaacg tgaacggatt caacaccctt ggggaaaaca
     2221 ttgctgacaa cggaggggtg cggcaagcct ataaggccta cctcaagtgg atggcagagg
     2281 gtggcaagga ccagcagctg cccggcctgg atctcaccca tgagcagctc ttcttcatca
     2341 actatgccca ggtgtggtgc gggtcctacc ggcccgagtt cgccatccaa tccatcaaga
     2401 cagacgtcca cagtcccctg aagtacaggg tactggggtc gctgcagaac ctggccgcct
     2461 tcgcagacac gttccactgt gcccggggca cccccatgca ccccaaggag cgatgccgcg
     2521 tgtggtagcc aaggccctgc cgcgctgtgc ggcccacgcc cacccgctgc tcggaggcat
     2581 ctgtgcgaag gtgcagctag cggcgaccca gtgtacgtcc cgccccggcc aaccatgcca
     2641 agcctgcctg ccaggcctct gcgcctggcc tagggtgcag ccacctgcct gacacccagg
     2701 gatgagcagt gtccagtgca gtacctggac cggagccccc tccacagaca cccgcggggc
     2761 tcagtgcccc cgtcacagct ctgtagagac aatcaactgt gtcctgccca ccctccaagg
     2821 tgcattgtct tccagtatct acagcttcag acttgagcta agtaaatgct tcaaagaaa
//
