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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
MAEA gene polymorphism was independently associated with severe periodontitis
Title: MAEA rs6815464 polymorphism and periodontitis in postmenopausal Japanese females: A cross-sectional study.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148451 (e-PCR)
- UniSTS:176403

RH91095 (e-PCR)
- UniSTS:92448

HSCZXD042 (e-PCR)
- UniSTS:20892

SHGC-111090 (e-PCR)
- UniSTS:168134

MAEA_904 (e-PCR)
- UniSTS:277462

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

EC 2.3.2.27

NP_001284359.1

EC 2.3.2.27

NP_001284360.1

EC 2.3.2.27

NP_001284361.1

EC 2.3.2.27

NP_001284362.1

EC 2.3.2.27

NP_005873.2

EC 2.3.2.27

XP_006713912.1

EC 2.3.2.27

XP_006713913.1

EC 2.3.2.27

XP_047305449.1

EC 2.3.2.27

XP_047305450.1

EC 2.3.2.27

XP_047305451.1

EC 2.3.2.27

XP_054204696.1

EC 2.3.2.27

XP_054204697.1

EC 2.3.2.27

XP_054204698.1

EC 2.3.2.27

XP_054204699.1

EC 2.3.2.27

XP_054204700.1

EC 2.3.2.27

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)

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
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
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
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
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
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

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

1289891..1340137

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000421644.1, ENST00000503653.5
XM_047449495.1 → XP_047305451.1 E3 ubiquitin-protein transferase MAEA isoform X5
XM_047449493.1 → XP_047305449.1 E3 ubiquitin-protein transferase MAEA isoform X3
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

1288439..1338753

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348721.1 → XP_054204696.1 E3 ubiquitin-protein transferase MAEA isoform X1
XM_054348724.1 → XP_054204699.1 E3 ubiquitin-protein transferase MAEA isoform X4
XM_054348725.1 → XP_054204700.1 E3 ubiquitin-protein transferase MAEA isoform X5
XM_054348723.1 → XP_054204698.1 E3 ubiquitin-protein transferase MAEA isoform X3
XM_054348722.1 → XP_054204697.1 E3 ubiquitin-protein transferase MAEA isoform X2