• Gene id: 10296

Gene Summary

• Gene Symbol: MAEA   Gene   UCSC   Ensembl
• Aliases: EMLP, EMP, GID9, HLC-10, P44EMLP, PIG5
• Gene name: macrophage erythroblast attacher, E3 ubiquitin ligase
• Alternate names: E3 ubiquitin-protein transferase MAEA, 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,
• Gene location: 4p16.3 (1289889: 1340147)     Exons: 13     NC_000004.12
• Gene summary(Entrez): 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 prote
• OMIM: 606801

Protein Summary

• Protein general information: Q7L5Y9  
  • Name: E3 ubiquitin protein transferase MAEA (EC 2.3.2.27) (Cell proliferation inducing gene 5 protein) (Erythroblast macrophage protein) (Human lung cancer oncogene 10 protein) (HLC 10) (Macrophage erythroblast attacher) (P44EMLP)
  • Length: 396  
  • Mass: 45287
  • Tissue specificity: Detected at macrophage membranes (at protein level). Ubiquitous. {ECO
• Sequence:

  MAVQESAAQLSMTLKVQEYPTLKVPYETLNKRFRAAQKNIDRETSHVTMVVAELEKTLSGCPAVDSVVSLLDGVV
  EKLSVLKRKAVESIQAEDESAKLCKRRIEHLKEHSSDQPAAASVWKRKRMDRMMVEHLLRCGYYNTAVKLARQSG
  IEDLVNIEMFLTAKEVEESLERRETATCLAWCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHF
  SQAEGSQLDEVRQAMGMLAFPPDTHISPYKDLLDPARWRMLIQQFRYDNYRLHQLGNNSVFTLTLQAGLSAIKTP
  QCYKEDGSSKSPDCPVCSRSLNKLAQPLPMAHCANSRLVCKISGDVMNENNPPMMLPNGYVYGYNSLLSIRQDDK
  VVCPRTKEVFHFSQAEKVYIM

• Structural information:
  • Protein Domains: (121..15-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126-)
    (159..21-)
    (/note="CTLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00058"-)
  • Interpro: IPR013144  IPR024964  IPR006595  IPR027714  IPR006594  
  • Prosite: PS50897 PS50896 PS51867
  • STRING: ENSP00000302830
• Other Databases: GeneCards:  MAEA  Malacards:  MAEA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0034657	GID complex	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045721	negative regulation of gluconeogenesis	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0048822	enucleate erythrocyte development	IEA	biological process
GO:0048821	erythrocyte development	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0007155	cell adhesion	IDA	biological process
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005826	actomyosin contractile ring	IDA	cellular component
GO:0033033	negative regulation of myeloid cell apoptotic process	IDA	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0016363	nuclear matrix	IDA	cellular component
GO:0007346	regulation of mitotic cell cycle	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq