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    MAEA macrophage erythroblast attacher, E3 ubiquitin ligase [ Homo sapiens (human) ]

    Gene ID: 10296, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAEAprovided by HGNC
    Official Full Name
    macrophage erythroblast attacher, E3 ubiquitin ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:13731
    See related
    Ensembl:ENSG00000090316 MIM:606801; AllianceGenome:HGNC:13731
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EMP; EMLP; GID9; PIG5; HLC-10; P44EMLP
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 10.3), spleen (RPKM 10.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAEA in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1289891..1340137)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1288439..1338753)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1283679..1333925)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C-terminal binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21151 Neighboring gene CTBP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21152 Neighboring gene uncharacterized LOC105374347 Neighboring gene uncharacterized LOC105374346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15127 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1285078-1285260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1288606-1289569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1291085-1291798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1301806-1302703 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1303601-1304498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1311232-1311732 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:1317288-1318487 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:1319662-1320861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1332970-1333488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1338713-1339236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1339237-1339759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15129 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21153 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1344739-1344907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1353821-1354342 Neighboring gene UV stimulated scaffold protein A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1354343-1354864 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:1388225-1389424 Neighboring gene Sharpr-MPRA regulatory region 8056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1399591-1400181 Neighboring gene NK1 homeobox 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of erythroblast macrophage protein related to erythroblastic islands in patients with hematopoietic stem cell transplantation. Mao X, et al. Eur J Med Res, 2013 Apr 8. PMID 23566571, Free PMC Article
    2. Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women. Cai X, et al. J Orthop Surg Res, 2021 Jan 10. PMID 33423677, Free PMC Article
    3. A polymorphism rs6815464 in the macrophage erythroblast attacher gene is associated with low bone mineral density in postmenopausal Japanese women. Che Y, et al. Gene, 2019 Jun 5. PMID 30890479
    4. MAEA rs6815464 polymorphism and periodontitis in postmenopausal Japanese females: A cross-sectional study. Che Y, et al. Arch Oral Biol, 2019 Jun. PMID 31005685
    5. Molecular identification and functional characterization of a novel protein that mediates the attachment of erythroblasts to macrophages. Hanspal M, et al. Blood, 1998 Oct 15. PMID 9763581

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression.
      Title: E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression.
    2. Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women.
      Title: Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women.
    3. MAEA gene polymorphism was independently associated with severe periodontitis
      Title: MAEA rs6815464 polymorphism and periodontitis in postmenopausal Japanese females: A cross-sectional study.
    4. The MAEA gene polymorphism rs6815464 was associated with low hip bone mineral density in postmenopausal Japanese women.
      Title: A polymorphism rs6815464 in the macrophage erythroblast attacher gene is associated with low bone mineral density in postmenopausal Japanese women.
    5. Emp expression correlates with erythroblastic island formation and has an important function for bone marrow hematopoiesis.
      Title: Evaluation of erythroblast macrophage protein related to erythroblastic islands in patients with hematopoietic stem cell transplantation.
    6. RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells.
      Title: RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.
    7. These results suggest that Emp undergoes dynamic rearrangements within the nuclear architecture that are correlated with cell division.
      Title: Emp is a component of the nuclear matrix of mammalian cells and undergoes dynamic rearrangements during cell division.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel loci for type 2 diabetes.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in enucleate erythrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of myeloid cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actomyosin contractile ring IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein transferase MAEA
    Names
    GID complex subunit 9, FYV10 homolog
    cell proliferation-inducing gene 5 protein
    erythroblast macrophage protein
    human lung cancer oncogene 10 protein
    lung cancer-related protein 10
    NP_001017405.1
    NP_001284359.1
    NP_001284360.1
    NP_001284361.1
    NP_001284362.1
    NP_005873.2
    XP_006713912.1
    XP_006713913.1
    XP_047305449.1
    XP_047305450.1
    XP_047305451.1
    XP_054204696.1
    XP_054204697.1
    XP_054204698.1
    XP_054204699.1
    XP_054204700.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001017405.3 → NP_001017405.1  E3 ubiquitin-protein transferase MAEA isoform 1

      See identical proteins and their annotated locations for NP_001017405.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK001088, AK091951, BC001225, BU607457
      Consensus CDS
      CCDS33936.1
      UniProtKB/Swiss-Prot
      O95285, Q5JB54, Q6ZRD6, Q7L5Y9, Q9BQ11, Q9H9V6, Q9H9Z4, Q9NW84
      UniProtKB/TrEMBL
      B4DUB2
      Related
      ENSP00000302830.4, ENST00000303400.9
      Conserved Domains (3) summary
      smart00667
      Location:120 → 153
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:336 → 383
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:160 → 301
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    2. NM_001297430.2 → NP_001284359.1  E3 ubiquitin-protein transferase MAEA isoform 3

      See identical proteins and their annotated locations for NP_001284359.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AK091951, AK296174, BU607457, DC331820
      UniProtKB/TrEMBL
      B4DJP8
      Conserved Domains (2) summary
      pfam10607
      Location:92 → 233
      CLTH; CTLH/CRA C-terminal to LisH motif domain
      cd16659
      Location:268 → 315
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins

    3. NM_001297431.2 → NP_001284360.1  E3 ubiquitin-protein transferase MAEA isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region, which results in an internal frameshifted segment, compared to variant 1. The encoded isoform (4) is shorter and has a distinct internal segment, compared to isoform 1.
      Source sequence(s)
      AK022515, AY236486, BU607457, DC331820
      Consensus CDS
      CCDS77887.1
      UniProtKB/TrEMBL
      D6RIB6
      Related
      ENSP00000427512.1, ENST00000514708.5
      Conserved Domains (2) summary
      smart00667
      Location:120 → 152
      LisH; Lissencephaly type-1-like homology motif
      pfam13445
      Location:272 → 311
      zf-RING_UBOX; RING-type zinc-finger

    4. NM_001297432.2 → NP_001284361.1  E3 ubiquitin-protein transferase MAEA isoform 5

      See identical proteins and their annotated locations for NP_001284361.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AK091951, AK301155, BU607457, DC400017
      Consensus CDS
      CCDS75090.1
      UniProtKB/TrEMBL
      B4DUB2, B4DVN3
      Related
      ENSP00000426807.1, ENST00000510794.5
      Conserved Domains (5) summary
      smart00667
      Location:119 → 152
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:158 → 215
      CTLH; C-terminal to LisH motif
      smart00757
      Location:211 → 303
      CRA; CT11-RanBPM
      pfam10607
      Location:159 → 300
      CLTH; CTLH/CRA C-terminal to LisH motif domain
      pfam13445
      Location:339 → 378
      zf-RING_UBOX; RING-type zinc-finger

    5. NM_001297433.2 → NP_001284362.1  E3 ubiquitin-protein transferase MAEA isoform 6

      See identical proteins and their annotated locations for NP_001284362.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (6) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC078852, AK091951, AK298944, BU607457, DC299400
      Consensus CDS
      CCDS77888.1
      UniProtKB/TrEMBL
      B4DQT1, B4DUB2
      Related
      ENSP00000424436.1, ENST00000505839.1
      Conserved Domains (3) summary
      smart00667
      Location:72 → 105
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:288 → 335
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:112 → 253
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    6. NM_005882.5 → NP_005873.2  E3 ubiquitin-protein transferase MAEA isoform 2

      See identical proteins and their annotated locations for NP_005873.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK022586, AK091951, BU607457
      Consensus CDS
      CCDS33937.1
      UniProtKB/TrEMBL
      B4DUB2
      Related
      ENSP00000264750.6, ENST00000264750.10
      Conserved Domains (3) summary
      smart00668
      Location:125 → 175
      CTLH; C-terminal to LisH motif
      cd16659
      Location:295 → 342
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:151 → 260
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    RNA

    1. NR_123716.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091951, AY236486, BU607457, DC331820

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      1289891..1340137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713849.3 → XP_006713912.1  E3 ubiquitin-protein transferase MAEA isoform X1

      UniProtKB/TrEMBL
      E7ESC7
      Conserved Domains (3) summary
      smart00667
      Location:120 → 153
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:336 → 365
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:160 → 301
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    2. XM_047449494.1 → XP_047305450.1  E3 ubiquitin-protein transferase MAEA isoform X4

      UniProtKB/TrEMBL
      D6REW7
      Related
      ENSP00000421644.1, ENST00000503653.5

    3. XM_047449495.1 → XP_047305451.1  E3 ubiquitin-protein transferase MAEA isoform X5

    4. XM_047449493.1 → XP_047305449.1  E3 ubiquitin-protein transferase MAEA isoform X3

    5. XM_006713850.3 → XP_006713913.1  E3 ubiquitin-protein transferase MAEA isoform X2

      Conserved Domains (3) summary
      smart00667
      Location:119 → 152
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:335 → 364
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:159 → 300
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      1288439..1338753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348721.1 → XP_054204696.1  E3 ubiquitin-protein transferase MAEA isoform X1

      UniProtKB/TrEMBL
      E7ESC7

    2. XM_054348724.1 → XP_054204699.1  E3 ubiquitin-protein transferase MAEA isoform X4

      UniProtKB/TrEMBL
      D6REW7

    3. XM_054348725.1 → XP_054204700.1  E3 ubiquitin-protein transferase MAEA isoform X5

    4. XM_054348723.1 → XP_054204698.1  E3 ubiquitin-protein transferase MAEA isoform X3

    5. XM_054348722.1 → XP_054204697.1  E3 ubiquitin-protein transferase MAEA isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5Y9.1 GenPept UniProtKB/Swiss-Prot:Q7L5Y9

    Gene LinkOut

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