LOCUS       NM_001297432            2360 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens macrophage erythroblast attacher, E3 ubiquitin ligase
            (MAEA), transcript variant 5, mRNA.
ACCESSION   NM_001297432 XM_005272243
VERSION     NM_001297432.2
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 2360)
  AUTHORS   Zhou,P., Peng,X., Tang,S., Zhang,K., Tan,Z., Li,D., Shen,L.,
            Peng,J. and Yang,L.
  TITLE     E3 ligase MAEA-mediated ubiquitination and degradation of PHD3
            promotes glioblastoma progression
  JOURNAL   Oncogene 42 (16), 1308-1320 (2023)
   PUBMED   36882523
  REMARK    GeneRIF: E3 ligase MAEA-mediated ubiquitination and degradation of
            PHD3 promotes glioblastoma progression.
REFERENCE   2  (bases 1 to 2360)
  AUTHORS   Cai,X., Dong,J., Lu,T., Zhi,L. and He,X.
  TITLE     Common variants in MAEA gene contributed the susceptibility to
            osteoporosis in Han Chinese postmenopausal women
  JOURNAL   J Orthop Surg Res 16 (1), 38 (2021)
   PUBMED   33423677
  REMARK    GeneRIF: Common variants in MAEA gene contributed the
            susceptibility to osteoporosis in Han Chinese postmenopausal women.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2360)
  AUTHORS   Che,Y., Sugita,N., Yoshihara,A., Iwasaki,M., Miyazaki,H.,
            Nakamura,K. and Yoshie,H.
  TITLE     A polymorphism rs6815464 in the macrophage erythroblast attacher
            gene is associated with low bone mineral density in postmenopausal
            Japanese women
  JOURNAL   Gene 700, 1-6 (2019)
   PUBMED   30890479
  REMARK    GeneRIF: The MAEA gene polymorphism rs6815464 was associated with
            low hip bone mineral density in postmenopausal Japanese women.
REFERENCE   4  (bases 1 to 2360)
  AUTHORS   Che,Y., Sugita,N., Yoshihara,A., Iwasaki,M., Miyazaki,H.,
            Nakamura,K. and Yoshie,H.
  TITLE     MAEA rs6815464 polymorphism and periodontitis in postmenopausal
            Japanese females: A cross-sectional study
  JOURNAL   Arch Oral Biol 102, 128-134 (2019)
   PUBMED   31005685
  REMARK    GeneRIF: MAEA gene polymorphism was independently associated with
            severe periodontitis
REFERENCE   5  (bases 1 to 2360)
  AUTHORS   Lampert,F., Stafa,D., Goga,A., Soste,M.V., Gilberto,S., Olieric,N.,
            Picotti,P., Stoffel,M. and Peter,M.
  TITLE     The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell
            proliferation and targets the transcription factor Hbp1 for
            degradation
  JOURNAL   Elife 7, e35528 (2018)
   PUBMED   29911972
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2360)
  AUTHORS   Imamura,M., Maeda,S., Yamauchi,T., Hara,K., Yasuda,K., Morizono,T.,
            Takahashi,A., Horikoshi,M., Nakamura,M., Fujita,H., Tsunoda,T.,
            Kubo,M., Watada,H., Maegawa,H., Okada-Iwabu,M., Iwabu,M.,
            Shojima,N., Ohshige,T., Omori,S., Iwata,M., Hirose,H., Kaku,K.,
            Ito,C., Tanaka,Y., Tobe,K., Kashiwagi,A., Kawamori,R., Kasuga,M.,
            Kamatani,N., Nakamura,Y. and Kadowaki,T.
  CONSRTM   Diabetes Genetics Replication and Meta-analysis (DIAGRAM)
            Consortium
  TITLE     A single-nucleotide polymorphism in ANK1 is associated with
            susceptibility to type 2 diabetes in Japanese populations
  JOURNAL   Hum Mol Genet 21 (13), 3042-3049 (2012)
   PUBMED   22456796
REFERENCE   7  (bases 1 to 2360)
  AUTHORS   Cho,Y.S., Chen,C.H., Hu,C., Long,J., Ong,R.T., Sim,X., Takeuchi,F.,
            Wu,Y., Go,M.J., Yamauchi,T., Chang,Y.C., Kwak,S.H., Ma,R.C.,
            Yamamoto,K., Adair,L.S., Aung,T., Cai,Q., Chang,L.C., Chen,Y.T.,
            Gao,Y., Hu,F.B., Kim,H.L., Kim,S., Kim,Y.J., Lee,J.J., Lee,N.R.,
            Li,Y., Liu,J.J., Lu,W., Nakamura,J., Nakashima,E., Ng,D.P.,
            Tay,W.T., Tsai,F.J., Wong,T.Y., Yokota,M., Zheng,W., Zhang,R.,
            Wang,C., So,W.Y., Ohnaka,K., Ikegami,H., Hara,K., Cho,Y.M.,
            Cho,N.H., Chang,T.J., Bao,Y., Hedman,A.K., Morris,A.P.,
            McCarthy,M.I., Takayanagi,R., Park,K.S., Jia,W., Chuang,L.M.,
            Chan,J.C., Maeda,S., Kadowaki,T., Lee,J.Y., Wu,J.Y., Teo,Y.Y.,
            Tai,E.S., Shu,X.O., Mohlke,K.L., Kato,N., Han,B.G. and Seielstad,M.
  CONSRTM   DIAGRAM Consortium; MuTHER Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies eight
            new loci for type 2 diabetes in east Asians
  JOURNAL   Nat Genet 44 (1), 67-72 (2011)
   PUBMED   22158537
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2360)
  AUTHORS   Kobayashi,N., Yang,J., Ueda,A., Suzuki,T., Tomaru,K., Takeno,M.,
            Okuda,K. and Ishigatsubo,Y.
  TITLE     RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat
            proteins ARMC8alpha and ARMC8beta are components of the CTLH
            complex
  JOURNAL   Gene 396 (2), 236-247 (2007)
   PUBMED   17467196
  REMARK    GeneRIF: RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and
            p44CTLH form complexes in cells.
REFERENCE   9  (bases 1 to 2360)
  AUTHORS   Bala,S., Kumar,A., Soni,S., Sinha,S. and Hanspal,M.
  TITLE     Emp is a component of the nuclear matrix of mammalian cells and
            undergoes dynamic rearrangements during cell division
  JOURNAL   Biochem Biophys Res Commun 342 (4), 1040-1048 (2006)
   PUBMED   16510120
  REMARK    GeneRIF: These results suggest that Emp undergoes dynamic
            rearrangements within the nuclear architecture that are correlated
            with cell division.
REFERENCE   10 (bases 1 to 2360)
  AUTHORS   Hanspal,M., Smockova,Y. and Uong,Q.
  TITLE     Molecular identification and functional characterization of a novel
            protein that mediates the attachment of erythroblasts to
            macrophages
  JOURNAL   Blood 92 (8), 2940-2950 (1998)
   PUBMED   9763581
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC400017.1, AK301155.1,
            AK091951.1 and BU607457.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001297432.1.
            
            Summary: This gene encodes a protein that mediates the attachment
            of erythroblasts to macrophages. This attachment promotes terminal
            maturation and enucleation of erythroblasts, presumably by
            suppressing apoptosis. The encoded protein is an integral membrane
            protein with the N-terminus on the extracellular side and the
            C-terminus on the cytoplasmic side of the cell. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2014].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and 5'
            coding region, compared to variant 1. The encoded isoform (5) has a
            shorter and distinct N-terminus, compared to 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 :: SRR14038192.4207275.1,
                                           SRR14038191.859812.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               DC400017.1         1-170
            171-1076            AK301155.1         1-906
            1077-2336           AK091951.1         810-2069
            2337-2360           BU607457.1         29-52               c
FEATURES             Location/Qualifiers
     source          1..2360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2360
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="macrophage erythroblast attacher, E3 ubiquitin
                     ligase"
                     /db_xref="GeneID:10296"
                     /db_xref="HGNC:HGNC:13731"
                     /db_xref="MIM:606801"
     exon            1..270
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..1392
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /EC_number="2.3.2.27"
                     /note="isoform 5 is encoded by transcript variant 5;
                     erythroblast macrophage protein; GID complex subunit 9,
                     FYV10 homolog; lung cancer-related protein 10; human lung
                     cancer oncogene 10 protein; cell proliferation-inducing
                     gene 5 protein; E3 ubiquitin-protein transferase MAEA"
                     /codon_start=1
                     /product="E3 ubiquitin-protein transferase MAEA isoform 5"
                     /protein_id="NP_001284361.1"
                     /db_xref="CCDS:CCDS75090.1"
                     /db_xref="GeneID:10296"
                     /db_xref="HGNC:HGNC:13731"
                     /db_xref="MIM:606801"
                     /translation="MWTLRATGREVGSSSCEDTVAPVPYETLNKRFRAAQKNIDRETS
                     HVTMVVAELEKTLSGCPAVDSVVSLLDGVVEKLSVLKRKAVESIQAEDESAKLCKRRI
                     EHLKEHSSDQPAAASVWKRKRMDRMMVEHLLRCGYYNTAVKLARQSGIEDLVNIEMFL
                     TAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVR
                     HARKHFSQAEGSQLDEVRQAMGMLAFPPDTHISPYKDLLDPARWRMLIQQFRYDNYRL
                     HQLGNNSVFTLTLQAGLSAIKTPQCYKEDGSSKSPDCPVCSRSLNKLAQPLPMAHCAN
                     SRLVCKISGDVMNENNPPMMLPNGYVYGYNSLLSIRQDDKVVCPRTKEVFHFSQAEKV
                     YIM"
     exon            271..453
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            454..657
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            658..780
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            781..857
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            858..966
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1100
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1296
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..2360
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2311..2316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="hexamer: AATAAA"
     polyA_site      2360
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="major polyA site"
ORIGIN      
        1 ggcctggctc ctctgggggg cgtggatgtg gggaggagct gctgtctggg tcagcagctg
       61 ccctgctgga gggagagggg gtgctgcgct catcccctga actcagattg gatagccccg
      121 ggccagcgct ggaggaggag cagaggcagg gaggtgggag gagcgtgcgc agaggcgtgg
      181 gaggcctgag gagtaagcgg ctggatgtgg accctgagag ccactggcag ggaggtgggg
      241 tcttccagtt gtgaagacac cgtggccccg gtgccctacg agacgctgaa caaacgcttt
      301 cgcgccgctc agaagaacat tgaccgggag accagccacg tcaccatggt ggtggccgag
      361 ctggagaaga cgttgagcgg ctgccccgcc gtggactccg tggtcagcct gctggacggc
      421 gtggtggaga agctcagcgt cctcaagagg aaggcggtgg aatccatcca ggccgaggac
      481 gagagcgcca agctgtgcaa gcgccggatc gagcacctca aagagcatag cagcgaccag
      541 cccgcggcgg ccagcgtgtg gaagaggaag cgcatggatc gcatgatggt ggagcacctg
      601 ctgcgttgcg gctactacaa cacggctgtc aagctggcgc gccagagcgg catcgaggac
      661 ctagtgaata ttgagatgtt cctgacggcc aaagaggtgg aggagtccct ggagaggcgt
      721 gagacggcca cctgcctggc ctggtgccat gacaacaagt cccggctccg gaagatgaag
      781 agctgcctgg agttcagcct cagaatccag gagttcattg aactcatccg gcagaataag
      841 agactggacg ctgtgagaca tgcaagaaag cacttcagcc aagcagaagg gagccagctg
      901 gacgaggtgc gccaggccat gggcatgctg gccttcccgc ccgacacgca catctccccg
      961 tacaaggacc ttctggaccc tgcacggtgg cggatgctga tccagcagtt ccggtacgac
     1021 aactaccgac tacaccagct gggaaacaat tctgtgttca ccctcaccct gcaggctggc
     1081 ctctcagcca tcaagacacc acagtgctac aaggaggacg gcagctccaa gagccctgac
     1141 tgccctgtgt gcagccgctc cctgaacaag ctggcgcagc ccctgcccat ggcccactgt
     1201 gccaactccc gcctggtctg caagatttct ggcgacgtga tgaacgagaa caatccgccc
     1261 atgatgctgc ccaacggcta cgtctacggc tacaattctc tgctttctat ccgtcaagat
     1321 gataaagtcg tgtgcccgag aaccaaagaa gtcttccact tctcacaagc cgagaaggtg
     1381 tacatcatgt aggccccacg tcgtgaagcg cacgcctcgg ggacgggctg cagtgggcgg
     1441 ggaggccacg ccttcctcct gtcccacgct ccagcctgcc gcggcgtttc tgtttcttgc
     1501 gaccaaagat ccgtgagcaa cgataaatac tcttaggaag agagaaaata aggtttcata
     1561 agtttgtact tgaaaacatt tggattggta ggattttgta acacgtcaac catttgatgc
     1621 ttctgaaaag tactttcaac ttgcgaagga aactcttctt taaagactga cctaaacacc
     1681 gagggaaact taagaacgtt taaaatatag gagtccgtga tttccctgtg ttttcagttt
     1741 ctttccttct gtgaacgatg agacttggag aacgggctgg tccttcacca cttcctgttg
     1801 gccctggcct ggccggggaa ggtggcagcg gcaccggact gacctgcagt gacccgcgat
     1861 gccgcgccac gagggacact tatggcttca ttcgagagct gctgccaaaa cgcctggcgc
     1921 cgccaccgtc gggggctggc ttcgaggacg cccgcctgcc tcgcgggtcg tgtccgcggg
     1981 actgtgttcg tacgtgcata gtttcgatat cacatcgcgg ggctgtgttc gtagctgcgt
     2041 cgtttcgata tcacaccctc tgtgtgccgc cttacttcct gcttcgagaa tgtataacgt
     2101 ggaaatccac gggaccaaat ttctgcagag gccttgccgg atggttccat aactgtagag
     2161 tctaattgct atccattaca gaaattaatc gttcagttga aagaagtact gatgactttt
     2221 caaaacaaat gaaccaccgt agctgacaga gaaccgtatc gtagaggttt gtagttagtg
     2281 cttatttttg catgttgatg ttgactagct aataaactgt aaatgtaaac catgcgaata
     2341 aaatggtttt ctatttctca
//
