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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001017405.3NP_001017405.1  E3 ubiquitin-protein transferase MAEA isoform 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:120153
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:336383
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:160301
      CLTH; CTLH/CRA C-terminal to LisH motif domain
    2. NM_001297430.2NP_001284359.1  E3 ubiquitin-protein transferase MAEA isoform 3

      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:92233
      CLTH; CTLH/CRA C-terminal to LisH motif domain
      cd16659
      Location:268315
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
    3. NM_001297431.2NP_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:120152
      LisH; Lissencephaly type-1-like homology motif
      pfam13445
      Location:272311
      zf-RING_UBOX; RING-type zinc-finger
    4. NM_001297432.2NP_001284361.1  E3 ubiquitin-protein transferase MAEA isoform 5

      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:119152
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:158215
      CTLH; C-terminal to LisH motif
      smart00757
      Location:211303
      CRA; CT11-RanBPM
      pfam10607
      Location:159300
      CLTH; CTLH/CRA C-terminal to LisH motif domain
      pfam13445
      Location:339378
      zf-RING_UBOX; RING-type zinc-finger
    5. NM_001297433.2NP_001284362.1  E3 ubiquitin-protein transferase MAEA isoform 6

      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:72105
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:288335
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:112253
      CLTH; CTLH/CRA C-terminal to LisH motif domain
    6. NM_005882.5NP_005873.2  E3 ubiquitin-protein transferase MAEA isoform 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:125175
      CTLH; C-terminal to LisH motif
      cd16659
      Location:295342
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:151260
      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_006713849.3XP_006713912.1  E3 ubiquitin-protein transferase MAEA isoform X1

      UniProtKB/TrEMBL
      E7ESC7
      Conserved Domains (3) summary
      smart00667
      Location:120153
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:336365
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:160301
      CLTH; CTLH/CRA C-terminal to LisH motif domain
    2. XM_047449494.1XP_047305450.1  E3 ubiquitin-protein transferase MAEA isoform X4

      UniProtKB/TrEMBL
      D6REW7
      Related
      ENSP00000421644.1, ENST00000503653.5
    3. XM_047449495.1XP_047305451.1  E3 ubiquitin-protein transferase MAEA isoform X5

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

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

      Conserved Domains (3) summary
      smart00667
      Location:119152
      LisH; Lissencephaly type-1-like homology motif
      cd16659
      Location:335364
      RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
      pfam10607
      Location:159300
      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_054348721.1XP_054204696.1  E3 ubiquitin-protein transferase MAEA isoform X1

      UniProtKB/TrEMBL
      E7ESC7
    2. XM_054348724.1XP_054204699.1  E3 ubiquitin-protein transferase MAEA isoform X4

      UniProtKB/TrEMBL
      D6REW7
    3. XM_054348725.1XP_054204700.1  E3 ubiquitin-protein transferase MAEA isoform X5

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

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