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

Gene ID: 10296, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1289891..1340137)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1288439..1338753)
105.20220307 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: 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

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Related articles in PubMed

  1. 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
  2. MAEA rs6815464 polymorphism and periodontitis in postmenopausal Japanese females: A cross-sectional study. Che Y, et al. Arch Oral Biol, 2019 Jun. PMID 31005685
  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. 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
  5. E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression. Zhou P, et al. Oncogene, 2023 Apr. PMID 36882523

See all (74) 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)

Genotypes

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 cycle IEA
Inferred from Electronic Annotation
more info
  
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 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_2023_10

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

    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

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

  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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