1. Gene
  2. MAEA - macrophage erythroblast attacher, E3 ubiquitin ligase Gene

MAEA - macrophage erythroblast attacher, E3 ubiquitin ligase Gene

Homo sapiens

Also known as EMP; EMLP; GID9; PIG5; HLC-10; P44EMLP

Gene ID: 10296 | Gene type: protein coding

About MAEA

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,289,891-1,340,137 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 10.3), spleen (RPKM 10.0) and 25 other tissues.

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]

MAEA Products(6)

mRNA Protein Name
NM_001017405.3 NP_001017405.1 E3 ubiquitin-protein transferase MAEA isoform 1
NM_001297430.2 NP_001284359.1 E3 ubiquitin-protein transferase MAEA isoform 3
NM_001297431.2 NP_001284360.1 E3 ubiquitin-protein transferase MAEA isoform 4
NM_001297432.2 NP_001284361.1 E3 ubiquitin-protein transferase MAEA isoform 5
NM_001297433.2 NP_001284362.1 E3 ubiquitin-protein transferase MAEA isoform 6
NM_005882.5 NP_005873.2 E3 ubiquitin-protein transferase MAEA isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables actin binding IDA
IDA: Inferred from direct assay
16510120 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell adhesion IDA
IDA: Inferred from direct assay
9763581 GOA
involved in negative regulation of myeloid cell apoptotic process IDA
IDA: Inferred from direct assay
9763581 GOA
Cellular Component GO Annotation Evidence Reference Source
located in actomyosin contractile ring IDA
IDA: Inferred from direct assay
16510120 GOA
located in cytoskeleton IDA
IDA: Inferred from direct assay
16510120 GOA
located in nuclear matrix IDA
IDA: Inferred from direct assay
16510120 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
24143168 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17467196 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
9763581 GOA
located in spindle IDA
IDA: Inferred from direct assay
16510120 GOA
part of ubiquitin ligase complex IDA
IDA: Inferred from direct assay
29911972 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAEA Protein Structure

CLTH

CLTH: CTLH/CRA C-terminal to LisH motif domain (160 - 300)

  • 0
  • 100
  • 200
  • 300
  • 396 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein transferase MAEA

GID complex subunit 9, FYV10 homolog

Related Diseases

Diseases Alias
Schizophrenia 16

SCZD16

Schizophrenia Susceptibility Locus, Chromosome 7q36.3-Related

Chromosome 7q36.3 Duplication Syndrome, 362-Kb

Schizophrenia 14

Sczd14

Schizophrenia, Susceptibility To, 14

Schizophrenia Susceptibility Locus, Chromosome 2q32-Related

Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42

Hallucinogen Abuse
Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus MAEA MGD MGI:1891748
Rattus norvegicus MAEA RGD RGD:1309877
Canis familiaris MAEA VGNC VGNC:42918
Bos taurus MAEA VGNC VGNC:31135
Felis catus MAEA VGNC VGNC:63361
Macaca mulatta MAEA VGNC VGNC:74282