Q7L5Y9 (MAEA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 58.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Macrophage erythroblast attacher Alternative name(s): Cell proliferation-inducing gene 5 protein Erythroblast macrophage protein Human lung cancer oncogene 10 protein Short name=HLC-10 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 396 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Play 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. Ref.4 Ref.7 |
| Subunit structure | Forms a complex with F-actin. Ref.7 |
| Subcellular location | Nucleus matrix. Cell membrane. Cytoplasm › cytoskeleton. Note: Localized as nuclear speckled-like pattern. Ref.7 |
| Tissue specificity | |
| Developmental stage | Localized with condensed chromatin at prophase; Detected in nuclear spindle poles at metaphase and in the contractile ring during telophase and cytokinesis. Ref.7 |
| Sequence similarities | Contains 1 CTLH domain. Contains 1 LisH domain. |
| Sequence caution | The sequence AAC67543.1 differs from that shown. Reason: Erroneous termination at position 397. Translated as stop. The sequence AAC67543.1 differs from that shown. Reason: Frameshift at positions 253 and 327. The sequence AAC67543.1 differs from that shown. Reason: Sequence differs at N-terminus. The sequence AAO85220.1 differs from that shown. Reason: Erroneous initiation. The sequence AK128302 differs from that shown. Reason: Intron retention. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7L5Y9-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q7L5Y9-2) The sequence of this isoform differs from the canonical sequence as follows: 153-193: Missing. 265-265: M → TCTVAD | ||||||
| Isoform 3 (identifier: Q7L5Y9-3) The sequence of this isoform differs from the canonical sequence as follows: 153-193: Missing. | ||||||
| Isoform 4 (identifier: Q7L5Y9-4) The sequence of this isoform differs from the canonical sequence as follows: 152-232: EDLVNIEMFL...KHFSQAEGSQ → GTCKKALQPS...PAGWPLSHQD 233-300: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q7L5Y9-5) The sequence of this isoform differs from the canonical sequence as follows: 153-245: DLVNIEMFLT...VRQAMGMLAF → TCKKALQPSR...LQGGRQLQEP 246-396: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 396 | 396 | Macrophage erythroblast attacher | PRO_0000284936 | |||||
Regions | |||||||||
| Domain | 121 – 153 | 33 | LisH | ||||||
| Domain | 159 – 216 | 58 | CTLH | ||||||
| Region | 1 – 124 | 124 | Extracellular and involved in cell to cell contact | ||||||
Natural variations | |||||||||
| Alternative sequence | 152 – 232 | 81 | EDLVN…AEGSQ → GTCKKALQPSRREPAGRGAP GHGHAGLPARHAHLPVQGPS GPCTVADADPAVPVRQLPTT PAGKQFCVHPHPAGWPLSHQ D in isoform 4. | VSP_024784 | |||||
| Alternative sequence | 153 – 245 | 93 | DLVNI…GMLAF → TCKKALQPSRREPAGRGAPG HGHAGLPARHAHLPVQGPSG PCTVADADPAVPVRQLPTTP AGKQFCVHPHPAGRPLSHQD TTVLQGGRQLQEP in isoform 5. | VSP_024785 | |||||
| Alternative sequence | 153 – 193 | 41 | Missing in isoform 2 and isoform 3. | VSP_024786 | |||||
| Alternative sequence | 233 – 300 | 68 | Missing in isoform 4. | VSP_024788 | |||||
| Alternative sequence | 246 – 396 | 151 | Missing in isoform 5. | VSP_024789 | |||||
| Alternative sequence | 265 | 1 | M → TCTVAD in isoform 2. | VSP_024790 | |||||
| Natural variant | 34 | 1 | R → C. Corresponds to variant rs34082974 [ dbSNP | Ensembl ]. | VAR_051150 | |||||
Experimental info | |||||||||
| Sequence conflict | 32 | 1 | R → C in AAP74806. Ref.1 | ||||||
| Sequence conflict | 56 | 1 | K → R in AAC67543. Ref.4 | ||||||
| Sequence conflict | 101 | 1 | R → L in AAC67543. Ref.4 | ||||||
| Sequence conflict | 123 | 1 | K → R in BAA91499. Ref.2 | ||||||
| Sequence conflict | 313 | 1 | D → V in AAC67543. Ref.4 | ||||||
| Sequence conflict | 327 | 1 | P → R in AAC67543. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a human cell proliferation gene 5." Kim J.W. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4). Tissue: Embryo and Thymus. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung. |
| [4] | "Molecular identification and functional characterization of a novel protein that mediates the attachment of erythroblasts to macrophages." Hanspal M., Smockova Y., Uong Q. Blood 92:2940-2950(1998) [PubMed: 9763581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-396 (ISOFORM 2), REGION, FUNCTION, TISSUE SPECIFICITY. |
| [5] | "Identification of new human cancer-related gene (HLC-10)." Kim J.W. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 9-396 (ISOFORM 1). |
| [6] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-396 (ISOFORM 1). |
| [7] | "Emp is a component of the nuclear matrix of mammalian cells and undergoes dynamic rearrangements during cell division." Bala S., Kumar A., Soni S., Sinha S., Hanspal M. Biochem. Biophys. Res. Commun. 342:1040-1048(2006) [PubMed: 16510120] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, SUBUNIT, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY236486 mRNA. Translation: AAP74806.1. AK001088 mRNA. Translation: BAA91499.1. AK128302 mRNA. No translation available. AK022515 mRNA. Translation: BAB14072.1. AK022586 mRNA. Translation: BAB14113.1. BC001225 mRNA. Translation: AAH01225.2. BC006470 mRNA. Translation: AAH06470.2. AF084928 mRNA. Translation: AAC67543.1. Sequence problems. AY189687 mRNA. Translation: AAO85220.1. Different initiation. BT006957 mRNA. Translation: AAP35603.1. |
| IPI | IPI00419963. IPI00556323. IPI00607605. IPI00845303. IPI00845323. |
| RefSeq | NP_001017405.1. NM_001017405.1. NP_005873.2. NM_005882.3. |
| UniGene | Hs.139896. |
3D structure databases | |
| ProteinModelPortal | Q7L5Y9. |
| SMR | Q7L5Y9. Positions 335-391. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q7L5Y9. |
PTM databases | |
| PhosphoSite | Q7L5Y9. |
Polymorphism databases | |
| DMDM | 74754297. |
Proteomic databases | |
| PRIDE | Q7L5Y9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000303400; ENSP00000302830; ENSG00000090316. |
| GeneID | 10296. |
| KEGG | hsa:10296. |
| NMPDR | fig|9606.3.peg.23794. |
| UCSC | uc003gda.1. human. uc003gdb.1. human. uc003gdc.1. human. |
Organism-specific databases | |
| CTD | 10296. |
| GeneCards | GC04P001273. |
| H-InvDB | HIX0004018. |
| HGNC | HGNC:13731. MAEA. |
| MIM | 606801. gene. |
| neXtProt | NX_Q7L5Y9. |
| PharmGKB | PA30533. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG12004. |
| GeneTree | ENSGT00550000074989. |
| HOVERGEN | HBG053270. |
| InParanoid | Q7L5Y9. |
| OMA | ENYRLFQ. |
| OrthoDB | EOG4MPHQ8. |
| PhylomeDB | Q7L5Y9. |
Gene expression databases | |
| ArrayExpress | Q7L5Y9. |
| Bgee | Q7L5Y9. |
| CleanEx | HS_MAEA. |
| Genevestigator | Q7L5Y9. |
Family and domain databases | |
| InterPro | IPR006595. CTLH_C. IPR006594. LisH_dimerisation. IPR013144. Ran-bd_prot-like_CRA_domain. [Graphical view] |
| SMART | SM00757. CRA. 1 hit. SM00668. CTLH. 1 hit. SM00667. LisH. 1 hit. [Graphical view] |
| PROSITE | PS50897. CTLH. 1 hit. PS50896. LISH. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 39018. |
| SOURCE | Search... |
Entry information
| Entry name | MAEA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7L5Y9 Secondary accession number(s): O95285 Q9NW84 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with