Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10296
Gene name Gene Name - the full gene name approved by the HGNC.
Macrophage erythroblast attacher, E3 ubiquitin ligase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAEA
Synonyms (NCBI Gene) Gene synonyms aliases
EMLP, EMP, GID9, HLC-10, P44EMLP, PIG5
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT037862 hsa-miR-455-3p CLASH 23622248
MIRT1125161 hsa-miR-181a CLIP-seq
MIRT1125162 hsa-miR-181b CLIP-seq
MIRT1125163 hsa-miR-181c CLIP-seq
MIRT1125164 hsa-miR-181d CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 29911972
GO:0003779 Function Actin binding IDA 16510120
GO:0003779 Function Actin binding IEA
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606801 13731 ENSG00000090316
Protein
UniProt ID Q7L5Y9
Protein 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)
Protein function Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required f
PDB 8PJN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10607 CLTH 159 301 CTLH/CRA C-terminal to LisH motif domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected at macrophage membranes (at protein level). Ubiquitous. {ECO:0000269|PubMed:9763581}.
Sequence
MAVQESAAQLSMTLKVQEYPTLKVPYETLNKRFRAAQKNIDRETSHVTMVVAELEKTLSG
CPAVDSVVSLLDGVVEKLSVLKRKAVESIQAEDESAKLCKRRIEHLKEHSSDQPAAASVW
KRKRMDRMMVEHLLRCGYYNTAVKLARQSGIEDLVNIEMFLTAKEVEESLERRETATCLA
WCHDNKSRLRKMKSCLEFSLRIQEFIELIRQNKRLDAVRHARKHFSQAEGSQLDEVRQAM
GMLAFPPDTHISPYKDLLDPARWRMLIQQFRYDNYRLHQLGNNSVFTLTLQAGLSAIKTP
Q
CYKEDGSSKSPDCPVCSRSLNKLAQPLPMAHCANSRLVCKISGDVMNENNPPMMLPNGY
VYGYNSLLSIRQDDKVVCPRTKEVFHFSQAEKVYIM
Sequence length 396
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Metabolic Associate 33423677
Carcinoma Pancreatic Ductal Associate 33820913
Diabetes Mellitus Type 2 Associate 24086726, 27175665
Endocarditis Associate 30686615
Extravasation of Diagnostic and Therapeutic Materials Associate 34260518
Inflammation Associate 23550836
Insulin Resistance Associate 32260174
Osteoporosis Associate 33423677
Pulmonary Disease Chronic Obstructive Associate 23550836