Gene Gene information from NCBI Gene database.
Entrez ID 10296
Gene name Macrophage erythroblast attacher, E3 ubiquitin ligase
Gene symbol MAEA
Synonyms (NCBI Gene)
EMLPEMPGID9HLC-10P44EMLPPIG5
Chromosome 4
Chromosome location 4p16.3
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 prote
miRNA miRNA information provided by mirtarbase database.
102
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606801 13731 ENSG00000090316
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bone Diseases Metabolic Bone disease Pubtator 33423677 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29340882, 31002284
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 33820913 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 24086726, 27175665 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus CTD_human_DG 22158537
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 22158537, 23945395, 28869590
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 22158537, 23945395
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 24086726, 27175665, 30890479, 31005685
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Extravasation of Diagnostic and Therapeutic Materials Extravasation of diagnostic and therapeutic materials Pubtator 34260518 Associate
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 32260174 Associate
★☆☆☆☆
Found in Text Mining only