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

Gene ID: 10296, updated on 1-Aug-2020

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
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

Genomic context

See MAEA in Genome Data Viewer
Location:
4p16.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1289890..1340148)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1283642..1333925)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C-terminal binding protein 1 Neighboring gene CTBP1 divergent transcript Neighboring gene uncharacterized LOC105374347 Neighboring gene uncharacterized LOC105374346 Neighboring gene UV stimulated scaffold protein A Neighboring gene Sharpr-MPRA regulatory region 8056 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
enucleate erythrocyte development IEA
Inferred from Electronic Annotation
more info
 
erythrocyte maturation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myeloid cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GID complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actomyosin contractile ring IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IDA
Inferred from Direct Assay
more info
PubMed 
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
macrophage erythroblast attacher
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_011511678.1
XP_011511679.1
XP_016863125.1
XP_016863126.1

NCBI Reference Sequences (RefSeq)

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

    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
    Q7L5Y9
    UniProtKB/TrEMBL
    B3KRN7
    Related
    ENSP00000302830.4, ENST00000303400.9
    Conserved Domains (3) summary
    smart00667
    Location:120153
    LisH; Lissencephaly type-1-like homology motif
    pfam10607
    Location:160301
    CLTH; CTLH/CRA C-terminal to LisH motif domain
    cd16659
    Location:336383
    RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins
  2. NM_001297430.2NP_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
    B3KRN7, 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/Swiss-Prot
    Q7L5Y9
    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_001297432.1NP_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
    B3KRN7, 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_001297433.1NP_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)
    AK091951, AK298944, BU607457, DC299400
    Consensus CDS
    CCDS77888.1
    UniProtKB/TrEMBL
    B3KRN7, B4DQT1
    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

    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/Swiss-Prot
    Q7L5Y9
    UniProtKB/TrEMBL
    B3KRN7
    Related
    ENSP00000264750.6, ENST00000264750.10
    Conserved Domains (3) summary
    smart00668
    Location:125175
    CTLH; C-terminal to LisH motif
    pfam10607
    Location:151260
    CLTH; CTLH/CRA C-terminal to LisH motif domain
    cd16659
    Location:295342
    RING-Ubox_Emp; U-box domain, a modified RING finger, found in erythroblast macrophage protein (Emp) and similar proteins

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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1289890..1340148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513377.1XP_011511679.1  E3 ubiquitin-protein transferase MAEA isoform X5

    Conserved Domains (5) summary
    smart00667
    Location:129
    LisH; Lissencephaly type-1-like homology motif
    smart00668
    Location:3592
    CTLH; C-terminal to LisH motif
    smart00757
    Location:88180
    CRA; CT11-RanBPM
    pfam10607
    Location:36177
    CLTH; CTLH/CRA C-terminal to LisH motif domain
    cl17238
    Location:216238
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  2. XM_017007636.1XP_016863125.1  E3 ubiquitin-protein transferase MAEA isoform X4

    UniProtKB/TrEMBL
    B4DQT1
    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
  3. XM_017007637.1XP_016863126.1  E3 ubiquitin-protein transferase MAEA isoform X6

  4. XM_011513376.1XP_011511678.1  E3 ubiquitin-protein transferase MAEA isoform X3

    Conserved Domains (5) summary
    smart00667
    Location:72105
    LisH; Lissencephaly type-1-like homology motif
    smart00668
    Location:111168
    CTLH; C-terminal to LisH motif
    smart00757
    Location:164256
    CRA; CT11-RanBPM
    pfam10607
    Location:112253
    CLTH; CTLH/CRA C-terminal to LisH motif domain
    cl17238
    Location:292314
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  5. XM_006713849.3XP_006713912.1  E3 ubiquitin-protein transferase MAEA isoform X1

    Conserved Domains (5) summary
    smart00667
    Location:120153
    LisH; Lissencephaly type-1-like homology motif
    smart00668
    Location:159216
    CTLH; C-terminal to LisH motif
    smart00757
    Location:212304
    CRA; CT11-RanBPM
    pfam10607
    Location:160301
    CLTH; CTLH/CRA C-terminal to LisH motif domain
    cl17238
    Location:340362
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  6. XM_006713850.2XP_006713913.1  E3 ubiquitin-protein transferase MAEA isoform X2

    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
    cl17238
    Location:339361
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

RNA

  1. XR_924910.1 RNA Sequence

  2. XR_001741093.1 RNA Sequence

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