2024-04-19 17:05:11, GGRNA : RefSeq release 60 (20130726)
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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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:220972 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA GeneID:220972 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:220972 -> Molecular function: GO:0042289 [MHC class II protein binding] evidence: IEA GeneID:220972 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: IDA GeneID:220972 -> Biological process: GO:0002495 [antigen processing and presentation of peptide antigen via MHC class II] evidence: IEA GeneID:220972 -> Biological process: GO:0045347 [negative regulation of MHC class II biosynthetic process] evidence: IEA GeneID:220972 -> Cellular component: GO:0005764 [lysosome] evidence: IDA GeneID:220972 -> Cellular component: GO:0005765 [lysosomal membrane] evidence: IEA GeneID:220972 -> Cellular component: GO:0005768 [endosome] evidence: IDA GeneID:220972 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:220972 -> Cellular component: GO:0030659 [cytoplasmic vesicle membrane] evidence: IEA GeneID:220972 -> Cellular component: GO:0031901 [early endosome membrane] evidence: IEA
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