LOCUS       NM_138396               2981 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens membrane associated ring-CH-type finger 9 (MARCHF9),
            mRNA.
ACCESSION   NM_138396
VERSION     NM_138396.6
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 2981)
  AUTHORS   Zhang,J., Jiao,Q. and Chen,Z.
  TITLE     Investigating the Prognostic and Oncogenic Roles of
            Membrane-Associated Ring-CH-Type Finger 9 in Colorectal Cancer
  JOURNAL   Genet Res (Camb) 2024, 9279653 (2024)
   PUBMED   39185021
  REMARK    GeneRIF: Investigating the Prognostic and Oncogenic Roles of
            Membrane-Associated Ring-CH-Type Finger 9 in Colorectal Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2981)
  AUTHORS   Tan,C., Byrne,E.F.X., Ah-Cann,C., Call,M.J. and Call,M.E.
  TITLE     A serine in the first transmembrane domain of the human E3
            ubiquitin ligase MARCH9 is critical for down-regulation of its
            protein substrates
  JOURNAL   J Biol Chem 294 (7), 2470-2485 (2019)
   PUBMED   30554144
  REMARK    GeneRIF: biochemical and structural findings demonstrate that
            specific sequences in the alpha-helical MARCH9 TM domains make
            crucial contributions to its ability to down-regulate its protein
            substrates.
REFERENCE   3  (bases 1 to 2981)
  AUTHORS   Luoto,S., Hermelo,I., Vuorinen,E.M., Hannus,P., Kesseli,J.,
            Nykter,M. and Granberg,K.J.
  TITLE     Computational Characterization of Suppressive Immune
            Microenvironments in Glioblastoma
  JOURNAL   Cancer Res 78 (19), 5574-5585 (2018)
   PUBMED   29921698
  REMARK    GeneRIF: analysis of glioblastoma alterations such as IDH mutation,
            NF1 inactivation, and CDK4-MARCH9 locus amplification
REFERENCE   4  (bases 1 to 2981)
  AUTHORS   Shen,Q.M., Wang,H.Y. and Xu,S.
  TITLE     MARCH9 Suppresses Lung Adenocarcinoma Progression by Downregulating
            ICAM-1
  JOURNAL   Cell Physiol Biochem 50 (1), 92-107 (2018)
   PUBMED   30278450
  REMARK    GeneRIF: Overexpression of MARCH9 was found to attenuate the
            oncogenic effect of ICAM-1, suggesting that MARCH9 may inhibit
            tumor progression by downregulating ICAM-1 signaling.
REFERENCE   5  (bases 1 to 2981)
  AUTHORS   De Angelis Rigotti,F., De Gassart,A., Pforr,C., Cano,F.,
            N'Guessan,P., Combes,A., Camossetto,V., Lehner,P.J., Pierre,P. and
            Gatti,E.
  TITLE     MARCH9-mediated ubiquitination regulates MHC I export from the TGN
  JOURNAL   Immunol Cell Biol 95 (9), 753-764 (2017)
   PUBMED   28559542
  REMARK    GeneRIF: this study shows that MARCH9-mediated ubiquitination
            regulates MHC I export from the trans Golgi network
REFERENCE   6  (bases 1 to 2981)
  AUTHORS   Nice,T.J., Deng,W., Coscoy,L. and Raulet,D.H.
  TITLE     Stress-regulated targeting of the NKG2D ligand Mult1 by a
            membrane-associated RING-CH family E3 ligase
  JOURNAL   J Immunol 185 (9), 5369-5376 (2010)
   PUBMED   20870941
  REMARK    GeneRIF: Downregulation of Mult1 by MARCH9 was reversed by
            heat-shock treatment, which resulted in the dissociation of the two
            proteins and increased the amount of Mult1 at the cell surface.
REFERENCE   7  (bases 1 to 2981)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 2981)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2981)
  AUTHORS   Hoer,S., Smith,L. and Lehner,P.J.
  TITLE     MARCH-IX mediates ubiquitination and downregulation of ICAM-1
  JOURNAL   FEBS Lett 581 (1), 45-51 (2007)
   PUBMED   17174307
  REMARK    GeneRIF: MARCH-IX expression causes ubiquitination and
            downregulation of ICAM-1
REFERENCE   10 (bases 1 to 2981)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC050397.1, AC025165.27 and AK093897.1.
            
            On Nov 22, 2018 this sequence version replaced NM_138396.5.
            
            Summary: MARCH9 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.
            MARCH9 induces internalization of several membrane glycoproteins
            and directs them to the endosomal compartment (Bartee et al., 2004
            [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied
            by OMIM, Apr 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.240481.1, BC050397.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266643.6/ ENSP00000266643.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-560               BC050397.1         6-565
            561-783             AC025165.27        149582-149804
            784-1986            BC050397.1         789-1991
            1987-2980           AK093897.1         907-1900
            2981-2981           AC025165.27        154330-154330
FEATURES             Location/Qualifiers
     source          1..2981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..2981
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="membrane associated ring-CH-type finger 9"
                     /db_xref="GeneID:92979"
                     /db_xref="HGNC:HGNC:25139"
                     /db_xref="MIM:613336"
     exon            1..783
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /inference="alignment:Splign:2.1.0"
     CDS             427..1467
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /EC_number="2.3.2.27"
                     /note="membrane-associated RING-CH protein IX; E3
                     ubiquitin-protein ligase MARCH9; RING finger protein 179;
                     membrane-associated RING finger protein 9;
                     membrane-associated ring finger (C3HC4) 9; membrane
                     associated ring finger 9; RING-type E3 ubiquitin
                     transferase MARCH9; RING-type E3 ubiquitin transferase
                     MARCHF9"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase MARCHF9"
                     /protein_id="NP_612405.2"
                     /db_xref="CCDS:CCDS31847.1"
                     /db_xref="GeneID:92979"
                     /db_xref="HGNC:HGNC:25139"
                     /db_xref="MIM:613336"
                     /translation="MLKSRLRMFLNELKLLVLTGGGRPRAEPQPRGGRGGGCGWAPFA
                     GCSTRDGDGDEEEYYGSEPRARGLAGDKEPRAGPLPPPAPPLPPPGALDALSLSSSLD
                     SGLRTPQCRICFQGPEQGELLSPCRCDGSVRCTHQPCLIRWISERGSWSCELCYFKYQ
                     VLAISTKNPLQWQAISLTVIEKVQIAAIVLGSLFLVASISWLIWSSLSPSAKWQRQDL
                     LFQICYGMYGFMDVVCIGLIIHEGSSVYRIFKRWQAVNQQWKVLNYDKTKDIGGDAGG
                     GTAGKSGPRNSRTGPTSGATSRPPAAQRMRTLLPQRCGYTILHLLGQLRPPDARSSSH
                     SGREVVMRVTTV"
     exon            784..939
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1132
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..2981
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1965..1970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="hexamer: CATAAA"
     polyA_site      1986
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="major polyA site"
     regulatory      2309..2314
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="hexamer: CATAAA"
     polyA_site      2329
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="hexamer: AATAGA"
     polyA_site      2478
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
     regulatory      2930..2935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="hexamer: AGTAAA"
     polyA_site      2949
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
     regulatory      2953..2958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
                     /note="hexamer: AATAAT"
     polyA_site      2981
                     /gene="MARCHF9"
                     /gene_synonym="MARCH-IX; MARCH9; RNF179"
ORIGIN      
        1 agccgccatt tgccaccgcc gagcgcacgg gccgagccaa gcctgatccc ggagccggag
       61 ggggactggg accgagagaa cggcgatggg gggcggcccc gccgcaggag gacccgggcg
      121 cgtaaccccg ggggcccggc ccgctccaga cccagacccg cggggtgcgg caccctgagc
      181 ccccctcccc gccccctgcc ctggccatgg ccgcccaccc cgccgccccc gggccgccag
      241 cccgctcggc cccgcaagca ccggagcccc ggcggtggca gcagtgaacg gctgtcgcag
      301 gccccgaaga ccccggcccg gctcggctct ctagcgcgcg cccccttccc ggccttgtcc
      361 tctcccctcc ccccgccgct agcgagcccc ccttgcacgc tgccccccgc ccccggtgtc
      421 cggacgatgc tcaagtctcg gctccgcatg tttctgaacg agctgaagct gctggtgctg
      481 acaggcgggg ggcggccccg ggccgagccg caaccccggg ggggccgggg aggcggctgc
      541 ggctgggcgc ccttcgctgg ctgctccacc cgggacggcg acggcgacga ggaggagtac
      601 tacgggtcgg agccgcgggc ccggggcctg gccggcgaca aggagccgcg ggccggaccc
      661 ctgccgccgc ccgcgccgcc gctgccgccc ccgggcgcgc tggacgccct gtcgctcagc
      721 agtagcctgg acagcggact ccgaacccct cagtgccgga tctgcttcca gggcccggag
      781 cagggggagc tcttaagccc ctgccgctgc gacggctcag tgcgctgcac gcatcagccc
      841 tgcctcatcc gctggatcag cgagaggggc tcctggagct gtgagctctg ctacttcaag
      901 taccaggtcc tggcgatcag caccaagaac ccactgcagt ggcaggccat ctccctgacg
      961 gtcatcgaga aggtccagat tgctgccata gttctgggct cgctcttcct ggttgccagc
     1021 atctcctggc tcatctggtc ctcactcagc ccttcagcca agtggcaacg acaggatctg
     1081 ctctttcaga tctgctacgg catgtatggc ttcatggatg tcgtctgcat aggcctcatc
     1141 atccatgaag gctcctctgt ctaccgcatc ttcaagcgct ggcaggcagt gaaccagcag
     1201 tggaaggtcc taaattatga caagaccaag gacataggag gagatgcagg gggagggacg
     1261 gcagggaagt caggccccag gaactcacgg acgggcccca cctctggggc cacgagccgc
     1321 cccccagctg cccagcgcat gcggacgctc ttgcctcagc gctgcggtta tacaatcttg
     1381 cacctccttg ggcagctgcg gccaccagat gcccgttcca gctcccattc tggccgagag
     1441 gttgtcatga gggtcactac agtctgaact ggactccagg agcagggatc ttgagtcaat
     1501 gcatcagtca gagaagaact ctcatggctg ctggaggtac cagctggaca aggtgtttgg
     1561 ggcatgctgc ccccgtcacc gaggatctgt gtgggtagcc tcaagctgga gacattgtct
     1621 ggcctcactg cccactgggt agagacacct ggatgacatt tcagtacccg ctggcagctc
     1681 ctcccactca tccagagacg gccggtgggc aggcggggag agcagctttc cttccctgga
     1741 gagaaccgtc tttacctcag ctcctagggc ctccagcccc ccagctccac cacggtgact
     1801 tggtgaaggg ggaccaatgc cagaagaaag gggctgtaga cccctattcc ccaccccatg
     1861 gccacagggc atctggcaat aagactagta tacattgacc tcccgttccc tgcatgaggg
     1921 cggggagttc cccctgctcc atcccccatt gcatggggga agggcataaa gaatcattta
     1981 tatgcacgtg gagactcctt tctcatctgg ggcttttctg gagggttggg agatgtgggg
     2041 aggtttctct gcacaggttg caaatcccaa atgcagcagt gggttctgag ttgtaggtgt
     2101 gactcccact tgctggtgaa taattcatgt tggctgctag gtggcagcac tccgaggtat
     2161 ctaaagggta gacctggacc tgccacctat gagttgtgtg atatagaaaa aaatctctta
     2221 gctctggttt tcctgtctac ttcatagggt tggaataagg ataaatgagg gacaggttgg
     2281 atgccgttgc agagaaaatc agcaatgaca taaagagatt tctagaatag ttgatggtcc
     2341 atttatttca aatagtagct ggtgtaacaa attctaaaat gtgtttttca tctggagttg
     2401 cacagaatca tggaattttg tgttgagtga cataataggt atggaaatat gaggggaaat
     2461 agacattgca aatgtgaagc atggtggtta tttgttaaga atgagaactc ctctgactct
     2521 aaatatttgg gcctgtgggc tggggaaggc tggagccatc tgccttgttc tggagatcat
     2581 ctgggttcta tcagtccttc tcaagtactg tgctcaccca gaaaagcagt gtgaagtgaa
     2641 tttggactca tttggagtga gatggaggga atccccccac tcagtgttat gagtctccaa
     2701 ccccagttta agctatttcc atggcagttt agggtcacag gtttgatccc ggtgtgccca
     2761 gccagtggta ttaatggatg gcattatgtt tggaggcagc agcatagagg actgttgttt
     2821 atagagaaaa gatttgggaa ggactgttta caatgtgggt cagcctgaag cctgggcact
     2881 ttcttctgtg accttggggt tgtgtattat atgaatgatg ctgtttttaa gtaaaccatt
     2941 caacagcaat taaataattc cttcattcac ggctaaagtc a
//
