LOCUS       NM_001017405            2182 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens macrophage erythroblast attacher, E3 ubiquitin ligase
            (MAEA), transcript variant 1, mRNA.
ACCESSION   NM_001017405
VERSION     NM_001017405.3
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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 2182)
  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 BC001225.1, AK001088.1,
            AK091951.1 and BU607457.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001017405.2.
            
            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 (1) encodes the longest 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 :: BC001225.1, SRR3476690.826451.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303400.9/ ENSP00000302830.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-898               BC001225.1         8-905
            899-1728            AK001088.1         899-1728
            1729-2158           AK091951.1         1640-2069
            2159-2182           BU607457.1         29-52               c
FEATURES             Location/Qualifiers
     source          1..2182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2182
                     /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..92
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1214
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001017405.1"
                     /db_xref="CCDS:CCDS33936.1"
                     /db_xref="GeneID:10296"
                     /db_xref="HGNC:HGNC:13731"
                     /db_xref="MIM:606801"
                     /translation="MAVQESAAQLSMTLKVQEYPTLKVPYETLNKRFRAAQKNIDRET
                     SHVTMVVAELEKTLSGCPAVDSVVSLLDGVVEKLSVLKRKAVESIQAEDESAKLCKRR
                     IEHLKEHSSDQPAAASVWKRKRMDRMMVEHLLRCGYYNTAVKLARQSGIEDLVNIEMF
                     LTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAV
                     RHARKHFSQAEGSQLDEVRQAMGMLAFPPDTHISPYKDLLDPARWRMLIQQFRYDNYR
                     LHQLGNNSVFTLTLQAGLSAIKTPQCYKEDGSSKSPDCPVCSRSLNKLAQPLPMAHCA
                     NSRLVCKISGDVMNENNPPMMLPNGYVYGYNSLLSIRQDDKVVCPRTKEVFHFSQAEK
                     VYIM"
     exon            93..275
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            276..479
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            480..602
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            603..679
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            680..788
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            789..922
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1118
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..2182
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2133..2138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="hexamer: AATAAA"
     polyA_site      2182
                     /gene="MAEA"
                     /gene_synonym="EMLP; EMP; GID9; HLC-10; P44EMLP; PIG5"
                     /note="major polyA site"
ORIGIN      
        1 gctaatgttt tggccgcttc aagatggcgg tgcaggagtc ggcggctcag ttgtccatga
       61 ccctgaaggt ccaggagtac ccgaccctca aggtgcccta cgagacgctg aacaaacgct
      121 ttcgcgccgc tcagaagaac attgaccggg agaccagcca cgtcaccatg gtggtggccg
      181 agctggagaa gacgttgagc ggctgccccg ccgtggactc cgtggtcagc ctgctggacg
      241 gcgtggtgga gaagctcagc gtcctcaaga ggaaggcggt ggaatccatc caggccgagg
      301 acgagagcgc caagctgtgc aagcgccgga tcgagcacct caaagagcat agcagcgacc
      361 agcccgcggc ggccagcgtg tggaagagga agcgcatgga tcgcatgatg gtggagcacc
      421 tgctgcgttg cggctactac aacacggctg tcaagctggc gcgccagagc ggcatcgagg
      481 acctagtgaa tattgagatg ttcctgacgg ccaaagaggt ggaggagtcc ctggagaggc
      541 gtgagacggc cacctgcctg gcctggtgcc atgacaacaa gtcccggctc cggaagatga
      601 agagctgcct ggagttcagc ctcagaatcc aggagttcat tgaactcatc cggcagaata
      661 agagactgga cgctgtgaga catgcaagaa agcacttcag ccaagcagaa gggagccagc
      721 tggacgaggt gcgccaggcc atgggcatgc tggccttccc gcccgacacg cacatctccc
      781 cgtacaagga ccttctggac cctgcacggt ggcggatgct gatccagcag ttccggtacg
      841 acaactaccg actacaccag ctgggaaaca attctgtgtt caccctcacc ctgcaggctg
      901 gcctctcagc catcaagaca ccacagtgct acaaggagga cggcagctcc aagagccctg
      961 actgccctgt gtgcagccgc tccctgaaca agctggcgca gcccctgccc atggcccact
     1021 gtgccaactc ccgcctggtc tgcaagattt ctggcgacgt gatgaacgag aacaatccgc
     1081 ccatgatgct gcccaacggc tacgtctacg gctacaattc tctgctttct atccgtcaag
     1141 atgataaagt cgtgtgcccg agaaccaaag aagtcttcca cttctcacaa gccgagaagg
     1201 tgtacatcat gtaggcccca cgtcgtgaag cgcacgcctc ggggacgggc tgcagtgggc
     1261 ggggaggcca cgccttcctc ctgtcccacg ctccagcctg ccgcggcgtt tctgtttctt
     1321 gcgaccaaag atccgtgagc aacgataaat actcttagga agagagaaaa taaggtttca
     1381 taagtttgta cttgaaaaca tttggattgg taggattttg taacacgtca accatttgat
     1441 gcttctgaaa agtactttca acttgcgaag gaaactcttc tttaaagact gacctaaaca
     1501 ccgagggaaa cttaagaacg tttaaaatat aggagtccgt gatttccctg tgttttcagt
     1561 ttctttcctt ctgtgaacga tgagacttgg agaacgggct ggtccttcac cacttcctgt
     1621 tggccctggc ctggccgggg aaggtggcag cggcaccgga ctgacctgca gtgacccgcg
     1681 atgccgcgcc acgagggaca cttatggctt cattcgagag ctgctgccaa aacgcctggc
     1741 gccgccaccg tcgggggctg gcttcgagga cgcccgcctg cctcgcgggt cgtgtccgcg
     1801 ggactgtgtt cgtacgtgca tagtttcgat atcacatcgc ggggctgtgt tcgtagctgc
     1861 gtcgtttcga tatcacaccc tctgtgtgcc gccttacttc ctgcttcgag aatgtataac
     1921 gtggaaatcc acgggaccaa atttctgcag aggccttgcc ggatggttcc ataactgtag
     1981 agtctaattg ctatccatta cagaaattaa tcgttcagtt gaaagaagta ctgatgactt
     2041 ttcaaaacaa atgaaccacc gtagctgaca gagaaccgta tcgtagaggt ttgtagttag
     2101 tgcttatttt tgcatgttga tgttgactag ctaataaact gtaaatgtaa accatgcgaa
     2161 taaaatggtt ttctatttct ca
//
