MAEA - macrophage erythroblast attacher, E3 ubiquitin ligase Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10296

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
Molecular Function GO Annotation Evidence References Source
enables actin binding IDA
IDA: Inferred from direct assay
16510120 GOA
Biological Process GO Annotation Evidence References 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 References 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