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Aliases for MAEA Gene

Aliases for MAEA Gene

  • Macrophage Erythroblast Attacher 2 3 5
  • Cell Proliferation-Inducing Gene 5 Protein 3 4
  • Human Lung Cancer Oncogene 10 Protein 3 4
  • Erythroblast Macrophage Protein 3 4
  • HLC-10 3 4
  • EMP 3 4
  • GID Complex Subunit 9, FYV10 Homolog (S. Cerevisiae) 2
  • GID Complex Subunit 9, FYV10 Homolog 3
  • Lung Cancer-Related Protein 10 3
  • PIG5 3
  • EMLP 3
  • GID9 3

External Ids for MAEA Gene

Previous GeneCards Identifiers for MAEA Gene

  • GC04P001273
  • GC04P001252

Summaries for MAEA Gene

Entrez Gene Summary for MAEA 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 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]

GeneCards Summary for MAEA Gene

MAEA (Macrophage Erythroblast Attacher) is a Protein Coding gene. Diseases associated with MAEA include Epiglottis Neoplasm and Solitary Osseous Plasmacytoma. GO annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot for MAEA Gene

  • Plays a role in erythroblast enucleation and in the development of the mature macrophages. Mediates the attachment of erythroid cell to mature macrophages, in correlation with the presence of MAEA at cell surface of mature macrophages; This MAEA-mediated contact inhibits erythroid cells apoptosis. Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages. May contribute to nuclear architecture and cells division events.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAEA Gene

Genomics for MAEA Gene

Regulatory Elements for MAEA Gene

Enhancers for MAEA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F001328 0.9 Ensembl ENCODE 42.4 +40.6 40624 3.1 JUND ZNF791 GATA3 GFI1B TARDBP ZBTB17 ZEB1 MAEA CRIPAK CTBP1-AS2 UVSSA ENSG00000272588 HAUS3 CTBP1 ENSG00000254094 PIR40977 GC04M001338
GH04F001240 1 Ensembl ENCODE 31.3 -43.8 -43829 10.5 PKNOX1 ATF1 CREB3L1 WRNIP1 SIN3A YY1 GLIS2 ELK1 ZNF143 ZNF207 MAEA CTBP1-AS2 UVSSA CRIPAK CTBP1-AS
GH04F001323 0.6 ENCODE 30.4 +35.6 35610 4.6 CTCF GFI1B CDC5L MNT ZEB1 ZNF791 JUND POLR2A TARDBP CTBP1-AS2 MAEA CRIPAK ENSG00000272588 HAUS3 CTBP1 GC04P001322 PIR40977
GH04F001288 0.4 ENCODE 22 +0.2 179 3.5 PKNOX1 ATF1 ARID4B SIN3A ZNF48 ETS1 YY1 GLIS2 ZNF143 FOS MAEA UVSSA HAUS3 CTBP1 CTBP1-AS2 SPON2 FGFRL1 GC04M001299
GH04F001293 1 Ensembl ENCODE 21.7 +4.9 4910 1.9 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 MXD4 GLIS1 MXD3 CRIPAK MAEA CTBP1 CTBP1-AS2 SPON2 RNF212 UVSSA GC04M001299
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MAEA on UCSC Golden Path with GeneCards custom track

Promoters for MAEA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001234532 149 2401 PKNOX1 ATF1 ARID4B SIN3A ZNF48 ETS1 YY1 GLIS2 ZNF143 FOS

Genomic Location for MAEA Gene

Chromosome:
4
Start:
1,289,851 bp from pter
End:
1,340,148 bp from pter
Size:
50,298 bases
Orientation:
Plus strand

Genomic View for MAEA Gene

Genes around MAEA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAEA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAEA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAEA Gene

Proteins for MAEA Gene

  • Protein details for MAEA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L5Y9-MAEA_HUMAN
    Recommended name:
    Macrophage erythroblast attacher
    Protein Accession:
    Q7L5Y9
    Secondary Accessions:
    • O95285
    • Q5JB54
    • Q6ZRD6
    • Q9BQ11
    • Q9H9V6
    • Q9H9Z4
    • Q9NW84

    Protein attributes for MAEA Gene

    Size:
    396 amino acids
    Molecular mass:
    45287 Da
    Quaternary structure:
    • Forms a complex with F-actin.
    SequenceCaution:
    • Sequence=AAC67543.1; Type=Erroneous termination; Positions=397; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=AAC67543.1; Type=Frameshift; Positions=253, 327; Evidence={ECO:0000305}; Sequence=AAC67543.1; Type=Miscellaneous discrepancy; Note=Sequence differs at N-terminus.; Evidence={ECO:0000305}; Sequence=AAO85220.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AK128302; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAEA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAEA Gene

Post-translational modifications for MAEA Gene

  • Ubiquitination at Lys 23, Lys 31, Lys 84, Lys 97, Lys 100, Lys 144, Lys 186, Lys 223, Lys 304, and Lys 323
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MAEA Gene

Domains & Families for MAEA Gene

Graphical View of Domain Structure for InterPro Entry

Q7L5Y9

UniProtKB/Swiss-Prot:

MAEA_HUMAN :
  • Contains 1 CTLH domain.
Domain:
  • Contains 1 CTLH domain.
  • Contains 1 LisH domain.
genes like me logo Genes that share domains with MAEA: view

No data available for Gene Families for MAEA Gene

Function for MAEA Gene

Molecular function for MAEA Gene

UniProtKB/Swiss-Prot Function:
Plays a role in erythroblast enucleation and in the development of the mature macrophages. Mediates the attachment of erythroid cell to mature macrophages, in correlation with the presence of MAEA at cell surface of mature macrophages; This MAEA-mediated contact inhibits erythroid cells apoptosis. Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages. May contribute to nuclear architecture and cells division events.

Gene Ontology (GO) - Molecular Function for MAEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 16510120
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with MAEA: view
genes like me logo Genes that share phenotypes with MAEA: view

Animal Models for MAEA Gene

MGI Knock Outs for MAEA:
  • Maea tm1b(EUCOMM)Wtsi

Animal Model Products

miRNA for MAEA Gene

miRTarBase miRNAs that target MAEA

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAEA Gene

Localization for MAEA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAEA Gene

Nucleus matrix. Cell membrane. Cytoplasm, cytoskeleton. Note=Localized as nuclear speckled-like pattern.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAEA Gene COMPARTMENTS Subcellular localization image for MAEA gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 3
extracellular 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MAEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005819 spindle IDA 16510120
GO:0005826 actomyosin contractile ring IDA 16510120
GO:0005856 cytoskeleton IEA,IDA 16510120
genes like me logo Genes that share ontologies with MAEA: view

Pathways & Interactions for MAEA Gene

SuperPathways for MAEA Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007049 cell cycle IEA --
GO:0007155 cell adhesion IDA 9763581
GO:0007346 regulation of mitotic cell cycle NAS 16510120
GO:0033033 negative regulation of myeloid cell apoptotic process IDA 9763581
genes like me logo Genes that share ontologies with MAEA: view

No data available for Pathways by source and SIGNOR curated interactions for MAEA Gene

Drugs & Compounds for MAEA Gene

(1) Drugs for MAEA Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
WF10 Approved, Investigational Pharma Target 0
genes like me logo Genes that share compounds with MAEA: view

Transcripts for MAEA Gene

Unigene Clusters for MAEA Gene

Macrophage erythroblast attacher:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAEA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10
SP1: - - - -
SP2:
SP3: - - - - -
SP4:
SP5:
SP6:

Relevant External Links for MAEA Gene

GeneLoc Exon Structure for
MAEA
ECgene alternative splicing isoforms for
MAEA

Expression for MAEA Gene

mRNA expression in normal human tissues for MAEA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAEA Gene

This gene is overexpressed in Lavage (47.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAEA Gene



NURSA nuclear receptor signaling pathways regulating expression of MAEA Gene:

MAEA

SOURCE GeneReport for Unigene cluster for MAEA Gene:

Hs.139896

mRNA Expression by UniProt/SwissProt for MAEA Gene:

Q7L5Y9-MAEA_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with MAEA: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MAEA Gene

Orthologs for MAEA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAEA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAEA 34 35
  • 99.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MAEA 34 35
  • 91.58 (n)
dog
(Canis familiaris)
Mammalia MAEA 34 35
  • 90.99 (n)
rat
(Rattus norvegicus)
Mammalia Maea 34
  • 89.98 (n)
mouse
(Mus musculus)
Mammalia Maea 34 16 35
  • 89.39 (n)
oppossum
(Monodelphis domestica)
Mammalia MAEA 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAEA 34 35
  • 80.39 (n)
lizard
(Anolis carolinensis)
Reptilia MAEA 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia maea 34
  • 81.13 (n)
Str.2513 34
African clawed frog
(Xenopus laevis)
Amphibia maea-prov 34
zebrafish
(Danio rerio)
Actinopterygii maea 34 35
  • 77.66 (n)
wufb20a09 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004332 34
  • 58.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31357 34 35
  • 58.71 (n)
worm
(Caenorhabditis elegans)
Secernentea maea-1 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FYV10 35 37
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G55070 34
  • 48.3 (n)
rice
(Oryza sativa)
Liliopsida Os05g0160100 34
  • 50.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09000 34
  • 49.45 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC106.13 34
  • 40.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4076 34
Species where no ortholog for MAEA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAEA Gene

ENSEMBL:
Gene Tree for MAEA (if available)
TreeFam:
Gene Tree for MAEA (if available)

Paralogs for MAEA Gene

No data available for Paralogs for MAEA Gene

Variants for MAEA Gene

Sequence variations from dbSNP and Humsavar for MAEA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10006789 -- 1,336,545(+) TAAGT(C/T)CATAC intron-variant
rs10012416 -- 1,330,558(+) gatcc(A/G)cccac intron-variant
rs10012539 -- 1,293,534(+) TTCAC(A/G)TGGGT intron-variant
rs10012582 -- 1,330,693(+) GTCAC(A/G)GTTTT intron-variant
rs10012819 -- 1,330,970(+) AACCA(C/G)GTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAEA Gene

Variant ID Type Subtype PubMed ID
esv1006767 CNV deletion 20482838
esv1007469 CNV insertion 20482838
esv1011456 CNV deletion 17803354
esv1108812 CNV deletion 17803354
esv1413945 CNV insertion 17803354
esv1714696 CNV insertion 17803354
esv22192 CNV loss 19812545
esv23351 CNV loss 19812545
esv2726778 CNV deletion 23290073
esv2726779 CNV deletion 23290073
esv2726780 CNV deletion 23290073
esv2726781 CNV deletion 23290073
esv2726782 CNV deletion 23290073
esv2726783 CNV deletion 23290073
esv2726785 CNV deletion 23290073
esv2726786 CNV deletion 23290073
esv2726787 CNV deletion 23290073
nsv1073285 CNV deletion 25765185
nsv1073286 CNV deletion 25765185
nsv1118990 CNV deletion 24896259
nsv1145016 CNV deletion 24896259
nsv1151208 CNV deletion 26484159
nsv290178 CNV insertion 16902084
nsv292086 CNV deletion 16902084
nsv461156 CNV loss 19166990
nsv461157 CNV loss 19166990
nsv473257 CNV novel sequence insertion 20440878
nsv508988 CNV insertion 20534489
nsv593278 CNV loss 21841781
nsv593281 CNV loss 21841781
nsv593298 CNV loss 21841781
nsv593299 CNV loss 21841781
nsv593300 CNV loss 21841781
nsv593301 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv829835 CNV gain 17160897
nsv980177 CNV duplication 23825009

Variation tolerance for MAEA Gene

Residual Variation Intolerance Score: 9.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAEA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAEA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAEA Gene

Disorders for MAEA Gene

MalaCards: The human disease database

(7) MalaCards diseases for MAEA Gene - From: DISEASES

Disorder Aliases PubMed IDs
epiglottis neoplasm
  • epiglottic tumor
solitary osseous plasmacytoma
  • isolated osseous plasmacytoma
chronic frontal sinusitis
plasma cell neoplasm
  • multiple myeloma
mature b-cell neoplasm
  • mature b-cell lymphocytic neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search MAEA in MalaCards View complete list of genes associated with diseases

Relevant External Links for MAEA

Genetic Association Database (GAD)
MAEA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAEA
genes like me logo Genes that share disorders with MAEA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAEA Gene

Publications for MAEA Gene

  1. Molecular identification and functional characterization of a novel protein that mediates the attachment of erythroblasts to macrophages. (PMID: 9763581) Hanspal M. … Uong Q. (Blood 1998) 2 3 4 22 64
  2. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (PMID: 22158537) Cho Y.S. … Seielstad M. (Nat. Genet. 2012) 3 46 64
  3. Emp is a component of the nuclear matrix of mammalian cells and undergoes dynamic rearrangements during cell division. (PMID: 16510120) Bala S. … Hanspal M. (Biochem. Biophys. Res. Commun. 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MAEA Gene

Sources for MAEA Gene

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