Human Gene MAEA (ENST00000303400.9_6) from GENCODE V47lift37
  Description: macrophage erythroblast attacher, E3 ubiquitin ligase, transcript variant 3 (from RefSeq NM_001297430.2)
Gencode Transcript: ENST00000303400.9_6
Gencode Gene: ENSG00000090316.16_8
Transcript (Including UTRs)
   Position: hg19 chr4:1,283,679-1,333,925 Size: 50,247 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr4:1,283,702-1,332,957 Size: 49,256 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:1,283,679-1,333,925)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAEA_HUMAN
DESCRIPTION: RecName: Full=Macrophage erythroblast attacher; AltName: Full=Cell proliferation-inducing gene 5 protein; AltName: Full=Erythroblast macrophage protein; AltName: Full=Human lung cancer oncogene 10 protein; Short=HLC-10;
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 to 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.
SUBUNIT: Forms a complex with F-actin.
SUBCELLULAR LOCATION: Nucleus matrix. Cell membrane. Cytoplasm, cytoskeleton. Note=Localized as nuclear speckled-like pattern.
TISSUE SPECIFICITY: Ubiquitous.
DEVELOPMENTAL STAGE: Localized with condensed chromatin at prophase; Detected in nuclear spindle poles at metaphase and in the contractile ring during telophase and cytokinesis.
SIMILARITY: Contains 1 CTLH domain.
SIMILARITY: Contains 1 LisH domain.
SEQUENCE CAUTION: Sequence=AAC67543.1; Type=Erroneous termination; Positions=397; Note=Translated as stop; Sequence=AAC67543.1; Type=Frameshift; Positions=253, 327; Sequence=AAC67543.1; Type=Miscellaneous discrepancy; Note=Sequence differs at N-terminus; Sequence=AAO85220.1; Type=Erroneous initiation; Sequence=AK128302; Type=Miscellaneous discrepancy; Note=Intron retention;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAEA
Diseases sorted by gene-association score: epiglottis neoplasm (4), solitary osseous plasmacytoma (3), chronic frontal sinusitis (3), plasma cell neoplasm (2), mature b-cell neoplasm (2), frontal sinusitis (2), meibomian cyst (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.28 RPKM in Spleen
Total median expression: 767.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.8023-0.165 Picture PostScript Text
3' UTR -328.60968-0.339 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013144 - CRA_dom
IPR024964 - CTLH/CRA
IPR006595 - CTLH_C
IPR006594 - LisH_dimerisation

Pfam Domains:
PF10607 - CTLH/CRA C-terminal to LisH motif domain

SCOP Domains:
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q7L5Y9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007049 cell cycle
GO:0007155 cell adhesion
GO:0007346 regulation of mitotic cell cycle
GO:0016567 protein ubiquitination
GO:0033033 negative regulation of myeloid cell apoptotic process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043249 erythrocyte maturation
GO:0045721 negative regulation of gluconeogenesis
GO:0048821 erythrocyte development
GO:0048822 enucleate erythrocyte development
GO:0051301 cell division

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005826 actomyosin contractile ring
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0034657 GID complex


-  Descriptions from all associated GenBank mRNAs
  BC001225 - Homo sapiens macrophage erythroblast attacher, mRNA (cDNA clone MGC:989 IMAGE:3533990), complete cds.
LF383958 - JP 2014500723-A/191461: Polycomb-Associated Non-Coding RNAs.
AK300572 - Homo sapiens cDNA FLJ54062 complete cds, highly similar to Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.
AK001088 - Homo sapiens cDNA FLJ10226 fis, clone HEMBB1000037, moderately similar to Homo sapiens erythroblast macrophage protein EMP mRNA.
AK022586 - Homo sapiens cDNA FLJ12524 fis, clone NT2RM2002145, moderately similar to Homo sapiens erythroblast macrophage protein EMP mRNA.
AK094253 - Homo sapiens cDNA FLJ36934 fis, clone BRACE2005348, highly similar to Mus musculus erythroblast macrophage protein EMP mRNA.
AK296174 - Homo sapiens cDNA FLJ54833 complete cds, moderately similar to Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.
AK022515 - Homo sapiens cDNA FLJ12453 fis, clone NT2RM1000430, moderately similar to Homo sapiens erythroblast macrophage protein EMP mRNA.
AY236486 - Homo sapiens proliferation-inducing gene 5 mRNA, complete cds.
AK308901 - Homo sapiens cDNA, FLJ98942.
AF084928 - Homo sapiens erythroblast macrophage protein EMP mRNA, complete cds.
BC006470 - Homo sapiens macrophage erythroblast attacher, mRNA (cDNA clone IMAGE:2823478), partial cds.
AY189687 - Homo sapiens lung cancer-related protein 10 mRNA, complete cds.
KJ902085 - Synthetic construct Homo sapiens clone ccsbBroadEn_11479 MAEA gene, encodes complete protein.
BT006957 - Homo sapiens macrophage erythroblast attacher mRNA, complete cds.
AK301155 - Homo sapiens cDNA FLJ54556 complete cds, highly similar to Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.
AK298944 - Homo sapiens cDNA FLJ53639 complete cds, highly similar to Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.
MA619535 - JP 2018138019-A/191461: Polycomb-Associated Non-Coding RNAs.
LF358164 - JP 2014500723-A/165667: Polycomb-Associated Non-Coding RNAs.
LF358167 - JP 2014500723-A/165670: Polycomb-Associated Non-Coding RNAs.
LF358168 - JP 2014500723-A/165671: Polycomb-Associated Non-Coding RNAs.
MA593741 - JP 2018138019-A/165667: Polycomb-Associated Non-Coding RNAs.
MA593744 - JP 2018138019-A/165670: Polycomb-Associated Non-Coding RNAs.
MA593745 - JP 2018138019-A/165671: Polycomb-Associated Non-Coding RNAs.
LF358169 - JP 2014500723-A/165672: Polycomb-Associated Non-Coding RNAs.
AK127875 - Homo sapiens cDNA FLJ45980 fis, clone PROST2016566, highly similar to Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 2, mRNA.
AB208907 - Homo sapiens mRNA for Hypothetical protein FLJ43512 variant protein.
AK091951 - Homo sapiens cDNA FLJ34632 fis, clone KIDNE2015660, highly similar to Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 2, mRNA.
AK128302 - Homo sapiens cDNA FLJ46442 fis, clone THYMU3016822.
AK125501 - Homo sapiens cDNA FLJ43512 fis, clone PERIC2004028.
LF358170 - JP 2014500723-A/165673: Polycomb-Associated Non-Coding RNAs.
LF358171 - JP 2014500723-A/165674: Polycomb-Associated Non-Coding RNAs.
JD326075 - Sequence 307099 from Patent EP1572962.
LF358172 - JP 2014500723-A/165675: Polycomb-Associated Non-Coding RNAs.
JD137467 - Sequence 118491 from Patent EP1572962.
JD408042 - Sequence 389066 from Patent EP1572962.
JD434684 - Sequence 415708 from Patent EP1572962.
MA593746 - JP 2018138019-A/165672: Polycomb-Associated Non-Coding RNAs.
MA593747 - JP 2018138019-A/165673: Polycomb-Associated Non-Coding RNAs.
MA593748 - JP 2018138019-A/165674: Polycomb-Associated Non-Coding RNAs.
MA593749 - JP 2018138019-A/165675: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: EMP , ENST00000303400.1, ENST00000303400.2, ENST00000303400.3, ENST00000303400.4, ENST00000303400.5, ENST00000303400.6, ENST00000303400.7, ENST00000303400.8, HLC10, MAEA_HUMAN, NM_001297430, O95285, PIG5 , Q5JB54, Q6ZRD6, Q7L5Y9, Q9BQ11, Q9H9V6, Q9H9Z4, Q9NW84, uc317nfs.1, uc317nfs.2
UCSC ID: ENST00000303400.9_6
RefSeq Accession: NM_001017405.3
Protein: Q7L5Y9 (aka MAEA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.