GGRNA | NM_001002266.1

LOCUS       NM_001002266            2000 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens membrane-associated ring finger (C3HC4) 8, E3
            ubiquitin protein ligase (MARCH8), transcript variant 3, mRNA.
ACCESSION   NM_001002266
VERSION     NM_001002266.1  GI:50539413
KEYWORDS    RefSeq.
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 2000)
  AUTHORS   van de Kooij,B., Verbrugge,I., de Vries,E., Gijsen,M.,
            Montserrat,V., Maas,C., Neefjes,J. and Borst,J.
  TITLE     Ubiquitination by the membrane-associated RING-CH-8 (MARCH-8)
            ligase controls steady-state cell surface expression of tumor
            necrosis factor-related apoptosis inducing ligand (TRAIL) receptor
            1
  JOURNAL   J. Biol. Chem. 288 (9), 6617-6628 (2013)
   PUBMED   23300075
  REMARK    GeneRIF: endogenous MARCH-8 regulates the steady-state cell surface
            expression of TRAIL-R1.
REFERENCE   2  (bases 1 to 2000)
  AUTHORS   van der Harst,P., Zhang,W., Mateo Leach,I., Rendon,A., Verweij,N.,
            Sehmi,J., Paul,D.S., Elling,U., Allayee,H., Li,X.,
            Radhakrishnan,A., Tan,S.T., Voss,K., Weichenberger,C.X.,
            Albers,C.A., Al-Hussani,A., Asselbergs,F.W., Ciullo,M., Danjou,F.,
            Dina,C., Esko,T., Evans,D.M., Franke,L., Gogele,M., Hartiala,J.,
            Hersch,M., Holm,H., Hottenga,J.J., Kanoni,S., Kleber,M.E.,
            Lagou,V., Langenberg,C., Lopez,L.M., Lyytikainen,L.P., Melander,O.,
            Murgia,F., Nolte,I.M., O'Reilly,P.F., Padmanabhan,S., Parsa,A.,
            Pirastu,N., Porcu,E., Portas,L., Prokopenko,I., Ried,J.S.,
            Shin,S.Y., Tang,C.S., Teumer,A., Traglia,M., Ulivi,S., Westra,H.J.,
            Yang,J., Zhao,J.H., Anni,F., Abdellaoui,A., Attwood,A., Balkau,B.,
            Bandinelli,S., Bastardot,F., Benyamin,B., Boehm,B.O., Cookson,W.O.,
            Das,D., de Bakker,P.I., de Boer,R.A., de Geus,E.J., de Moor,M.H.,
            Dimitriou,M., Domingues,F.S., Doring,A., Engstrom,G.,
            Eyjolfsson,G.I., Ferrucci,L., Fischer,K., Galanello,R.,
            Garner,S.F., Genser,B., Gibson,Q.D., Girotto,G., Gudbjartsson,D.F.,
            Harris,S.E., Hartikainen,A.L., Hastie,C.E., Hedblad,B., Illig,T.,
            Jolley,J., Kahonen,M., Kema,I.P., Kemp,J.P., Liang,L.,
            Lloyd-Jones,H., Loos,R.J., Meacham,S., Medland,S.E., Meisinger,C.,
            Memari,Y., Mihailov,E., Miller,K., Moffatt,M.F., Nauck,M.,
            Novatchkova,M., Nutile,T., Olafsson,I., Onundarson,P.T.,
            Parracciani,D., Penninx,B.W., Perseu,L., Piga,A., Pistis,G.,
            Pouta,A., Puc,U., Raitakari,O., Ring,S.M., Robino,A., Ruggiero,D.,
            Ruokonen,A., Saint-Pierre,A., Sala,C., Salumets,A., Sambrook,J.,
            Schepers,H., Schmidt,C.O., Sillje,H.H., Sladek,R., Smit,J.H.,
            Starr,J.M., Stephens,J., Sulem,P., Tanaka,T., Thorsteinsdottir,U.,
            Tragante,V., van Gilst,W.H., van Pelt,L.J., van Veldhuisen,D.J.,
            Volker,U., Whitfield,J.B., Willemsen,G., Winkelmann,B.R.,
            Wirnsberger,G., Algra,A., Cucca,F., d'Adamo,A.P., Danesh,J.,
            Deary,I.J., Dominiczak,A.F., Elliott,P., Fortina,P., Froguel,P.,
            Gasparini,P., Greinacher,A., Hazen,S.L., Jarvelin,M.R., Khaw,K.T.,
            Lehtimaki,T., Maerz,W., Martin,N.G., Metspalu,A., Mitchell,B.D.,
            Montgomery,G.W., Moore,C., Navis,G., Pirastu,M., Pramstaller,P.P.,
            Ramirez-Solis,R., Schadt,E., Scott,J., Shuldiner,A.R., Smith,G.D.,
            Smith,J.G., Snieder,H., Sorice,R., Spector,T.D., Stefansson,K.,
            Stumvoll,M., Tang,W.H., Toniolo,D., Tonjes,A., Visscher,P.M.,
            Vollenweider,P., Wareham,N.J., Wolffenbuttel,B.H., Boomsma,D.I.,
            Beckmann,J.S., Dedoussis,G.V., Deloukas,P., Ferreira,M.A.,
            Sanna,S., Uda,M., Hicks,A.A., Penninger,J.M., Gieger,C.,
            Kooner,J.S., Ouwehand,W.H., Soranzo,N. and Chambers,J.C.
  TITLE     Seventy-five genetic loci influencing the human red blood cell
  JOURNAL   Nature 492 (7429), 369-375 (2012)
   PUBMED   23222517
REFERENCE   3  (bases 1 to 2000)
  AUTHORS   Chen,R., Li,M., Zhang,Y., Zhou,Q. and Shu,H.B.
  TITLE     The E3 ubiquitin ligase MARCH8 negatively regulates
            IL-1beta-induced NF-kappaB activation by targeting the IL1RAP
            coreceptor for ubiquitination and degradation
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 109 (35), 14128-14133 (2012)
   PUBMED   22904187
  REMARK    GeneRIF: MARCH8-mediated polyubiquitination and degradation of
            IL1RAP is an important mechanism for negative regulation of
            IL-1beta-induced signaling pathways.
REFERENCE   4  (bases 1 to 2000)
  AUTHORS   Eyster,C.A., Cole,N.B., Petersen,S., Viswanathan,K., Fruh,K. and
            Donaldson,J.G.
  TITLE     MARCH ubiquitin ligases alter the itinerary of clathrin-independent
            cargo from recycling to degradation
  JOURNAL   Mol. Biol. Cell 22 (17), 3218-3230 (2011)
   PUBMED   21757542
  REMARK    GeneRIF: MARCH8 expression led to direct ubiquitination of CD98 and
            routing of CD98 to late endosomes/lysosomes
REFERENCE   5  (bases 1 to 2000)
  AUTHORS   Bartee,E., Eyster,C.A., Viswanathan,K., Mansouri,M., Donaldson,J.G.
            and Fruh,K.
  TITLE     Membrane-Associated RING-CH proteins associate with Bap31 and
            target CD81 and CD44 to lysosomes
  JOURNAL   PLoS ONE 5 (12), E15132 (2010)
   PUBMED   21151997
  REMARK    GeneRIF: Membrane-Associated RING-CH proteins MARCH VIII and MARCH
            IV associate with Bap31 and target CD81 and CD44 to lysosomes
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2000)
  AUTHORS   Bernstein,D., Williams,G.E., Eisen,H., Mital,S., Wohlgemuth,J.G.,
            Klingler,T.M., Fang,K.C., Deng,M.C. and Kobashigawa,J.
  TITLE     Gene expression profiling distinguishes a molecular signature for
            grade 1B mild acute cellular rejection in cardiac allograft
            recipients
  JOURNAL   J. Heart Lung Transplant. 26 (12), 1270-1280 (2007)
   PUBMED   18096478
  REMARK    GeneRIF: Of the classifier's 11 informative genes, expression of
            MIR and WDR40 showed statistically significant increases for both
            Grade 1B and Grade >or=3A rejection.
REFERENCE   7  (bases 1 to 2000)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am. J. Hum. Genet. 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2000)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   9  (bases 1 to 2000)
  AUTHORS   Bartee,E., Mansouri,M., Hovey Nerenberg,B.T., Gouveia,K. and
            Fruh,K.
  TITLE     Downregulation of major histocompatibility complex class I by human
            ubiquitin ligases related to viral immune evasion proteins
  JOURNAL   J. Virol. 78 (3), 1109-1120 (2004)
   PUBMED   14722266
REFERENCE   10 (bases 1 to 2000)
  AUTHORS   Goto,E., Ishido,S., Sato,Y., Ohgimoto,S., Ohgimoto,K.,
            Nagano-Fujii,M. and Hotta,H.
  TITLE     c-MIR, a human E3 ubiquitin ligase, is a functional homolog of
            herpesvirus proteins MIR1 and MIR2 and has similar activity
  JOURNAL   J. Biol. Chem. 278 (17), 14657-14668 (2003)
   PUBMED   12582153
  REMARK    GeneRIF: c-MIR induced specific down-regulation of B7-2 surface
            expression through ubiquitination, rapid endocytosis, and lysosomal
            degradation
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG717635.1, BC066988.1 and BG433948.1.
            
            Summary: MARCH8 is a member of the MARCH family of membrane-bound
            E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin
            (see MIM 191339) to target lysines in substrate proteins, thereby
            signaling their vesicular transport between membrane compartments.
            MARCH8 induces the internalization of several membrane
            glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al.,
            2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            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 :: BC025394.2, AK313340.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               BG717635.1         6-166
            162-1034            BC066988.1         674-1546
            1035-1115           BG433948.1         561-641
            1116-2000           BC066988.1         1628-2512
FEATURES             Location/Qualifiers
     source          1..2000
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     gene            1..2000
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /note="membrane-associated ring finger (C3HC4) 8, E3
                     ubiquitin protein ligase"
                     /db_xref="GeneID:220972"
                     /db_xref="HGNC:23356"
                     /db_xref="MIM:613335"
     exon            1..161
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     exon            162..341
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    228..230
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /note="upstream in-frame stop codon"
     CDS             240..1115
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /note="c-mir, cellular modulator of immune recognition;
                     membrane-associated RING-CH protein VIII; cellular
                     modulator of immune recognition (c-MIR); RING finger
                     protein 178; membrane-associated RING finger protein 8"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase MARCH8"
                     /protein_id="NP_001002266.1"
                     /db_xref="GI:50539414"
                     /db_xref="CCDS:CCDS7213.1"
                     /db_xref="GeneID:220972"
                     /db_xref="HGNC:23356"
                     /db_xref="MIM:613335"
                     /translation="

MSMPLHQISAIPSQDAISARVYRSKTKEKEREEQNEKTLGHFMSHSSNISKAGSPPSASAPAPVSSFSRTSITPSSQDICRICHCEGDDESPLITPCHCTGSLHFVHQACLQQWIKSSDTRCCELCKYEFIMETKLKPLRKWEKLQMTSSERRKIMCSVTFHVIAITCVVWSLYVLIDRTAEEIKQGQATGILEWPFWTKLVVVAIGFTGGLLFMYVQCKVYVQLWKRLKAYNRVIYVQNCPETSKKNIFEKSPLTEPNFENKHGYGICHSDTNSSCCTEPEDTGAEIIHV

"
     misc_feature    474..620
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /note="The RING-variant domain is a C4HC3 zinc-finger like
                     motif found in a number of cellular and viral proteins;
                     Region: RINGv; smart00744"
                     /db_xref="CDD:128983"
     misc_feature    <687..932
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /note="Tripartite ATP-independent periplasmic
                     transporters, DctQ component; Region: DctQ; pfam04290"
                     /db_xref="CDD:202961"
     misc_feature    708..770
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0T0.1);
                     transmembrane region"
     misc_feature    828..890
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T0T0.1);
                     transmembrane region"
     exon            342..392
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     exon            393..481
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     exon            482..662
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     variation       513
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3764990"
     exon            663..810
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     exon            811..1985
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /inference="alignment:Splign:1.39.8"
     STS             910..1056
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
                     /standard_name="RH92176"
                     /db_xref="UniSTS:92002"
     polyA_signal    1965..1971
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
     polyA_site      1985
                     /gene="MARCH8"
                     /gene_synonym="c-MIR; MARCH-VIII; MIR; RNF178"
ORIGIN

atggtaggtatagggctgtggatatcgtcagtttgaccaagtattccaagaggccccatggagtttgtcatctgtaatagaggacgttagtgcattagtgatgaaaaaactgcttaccactgactattgtgatctcccagggagtataaggcagctccgcacttgaaatccatggcccaaaatgactctaccagtggagactctcttctgtgaagaagacgaccagataagaggttgggatgagcatgccactgcatcagatctctgccattccatcccaggatgccatctctgctagagtctacagaagtaagaccaaagaaaaggagagggaagaacagaatgagaagactttgggacatttcatgagtcattcaagcaacatttctaaggctgggagtcctccgtcagcatcagctccggctccggtgtcctccttctctcgcacttctatcacgccatccagccaggacatctgcaggatctgccactgtgaaggagatgatgagagccccctgatcaccccctgccactgcacaggaagcctccacttcgtgcaccaggcctgcctgcagcagtggatcaagagctccgacacgcgctgctgcgagctctgcaagtatgagttcatcatggagaccaagctgaagccactgagaaaatgggagaagttgcagatgacgtccagcgagcgcaggaagatcatgtgctcagtgacattccacgtcattgccatcacatgtgtggtctggtccttgtatgtgctcattgaccgtactgctgaggagatcaagcaggggcaggcaacaggaatcctagaatggcccttttggactaaattggtggttgtggccatcggcttcaccggaggacttctttttatgtatgttcagtgtaaagtgtatgtgcaattgtggaagagactcaaggcctataatagagtgatctatgttcaaaactgtccagaaacaagcaaaaagaatatttttgaaaaatctccactaacagagcccaactttgaaaataaacatggatatggaatctgtcattccgacacaaactcttcttgttgcacagagcctgaagacactggagcagaaatcattcacgtctgattgtgtgcgggttgtcattttcctggacatccatgaagagctgaaggaaattgtttactgccaattgtatacctttcttatgtcctttaatagcatagactggacaggtgactatttatagtggcttctctttttctaaaccctccttagtctcctagaaaaccttcctgtgggccaggcatgcctgggtcctgcctctgcctggcagctctgtgggaaagtggaagaccccatgatgacatcatggggagccagcagagttcctgcccatggtcttgagctgaatgagagaataaaatgccaatcccaagggaagaggaggagcaggggtgcccaggccctgatacccagccgcctccagcttgcagtggtccccagcctggagcagagcattggggagtgtctagccatgacgagaagattccctctgcatcacggcgaaccccaggagatggtattgaaacagacccccaaacacagactcctgcctgccctctgccgatgctgcctcctccatgctcttgagcaggtggagccatggtgctctgtggtggcgcatgattcactgagcaaacagcactttacagaagaaaatctttattttgtaatatgtgtgtccagcgggattgacactcaaaaaaagtctcacttagaaatcttcccttccttacctttgtatctcctttacatcatgagagatcaaaaatccattttgccttacatatgctaagaagcgtggcattctttctgttcataaaacagactcatgacttttaagacaggacaagcaggccagaggctttttttttaatcacagatctcatgggaattagtggatgctaaatggcaattaaagcatgattcctatgcaaaaaaaaaaaaaaa

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