Q96JG8 (MAGD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 93.
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: Melanoma-associated antigen D4 Alternative name(s): MAGE-D4 antigen MAGE-E1 antigen | |||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | |||||||
| Taxonomic identifier | 9606 [NCBI] | |||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 741 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Ref.13 |
| Subunit structure | Interacts with TRIM27. Ref.13 |
| Tissue specificity | Expressed only in brain and ovary among normal tissues. Isoform 1 and isoform 2 are specifically expressed in glioma cells among cancer cells. Detected in some renal cell carcinoma samples. Ref.1 Ref.12 |
| Sequence similarities | Contains 1 MAGE domain. |
| Sequence caution | The sequence AAH01207.1 differs from that shown. Reason: Erroneous initiation. The sequence AAL50032.1 differs from that shown. Reason: Frameshift at positions 186 and 219. The sequence BAB47488.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ubl conjugation pathway |
| Coding sequence diversity | Alternative splicing |
| Molecular function | Tumor antigen |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96JG8-1) Also known as: MAGE-E1a; 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: Q96JG8-2) Also known as: MAGE-E1b; The sequence of this isoform differs from the canonical sequence as follows: 740-741: Missing. | ||||||
| Isoform 3 (identifier: Q96JG8-3) Also known as: MAGE-E1c; The sequence of this isoform differs from the canonical sequence as follows: 349-414: SKHLDDEYES...LPPRNVTLLQ → VRSPCPLPPP...LVHVSPTQVC 415-741: Missing. | ||||||
| Isoform 4 (identifier: Q96JG8-4) The sequence of this isoform differs from the canonical sequence as follows: 557-557: K → KNPELREETPLSMAPSW | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 741 | 741 | Melanoma-associated antigen D4 | PRO_0000156728 | |||||
Regions | |||||||||
| Domain | 413 – 611 | 199 | MAGE | ||||||
| Compositional bias | 97 – 339 | 243 | Ala-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 349 – 414 | 66 | SKHLD…VTLLQ → VRSPCPLPPPHPLAPVLSFS SLSCSSPPSPLPLLPLFSSF PSFSPHLPSPPLLSSQLVHV SPTQVC in isoform 3. | VSP_009288 | |||||
| Alternative sequence | 415 – 741 | 327 | Missing in isoform 3. | VSP_009289 | |||||
| Alternative sequence | 557 | 1 | K → KNPELREETPLSMAPSW in isoform 4. | VSP_035013 | |||||
| Alternative sequence | 740 – 741 | 2 | Missing in isoform 2. | VSP_009287 | |||||
Experimental info | |||||||||
| Sequence conflict | 314 | 1 | A → V in BAF82147. Ref.6 | ||||||
| Sequence conflict | 635 | 1 | Q → R Ref.10 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "MAGE-E1, a new member of the melanoma-associated antigen gene family and its expression in human glioma." Sasaki M., Nakahira K., Kawano Y., Katakura H., Yoshimine T., Shimizu K., Kim S.U., Ikenaka K. Cancer Res. 61:4809-4814(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY. |
| [2] | "Structural characterization and chromosomal localization of the MAGE-E1 gene." Kawano Y., Sasaki M., Nakahira K., Yoshimine T., Shimizu K., Wada H., Ikenaka K. Gene 277:129-137(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3). |
| [3] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Amygdala. |
| [4] | "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [5] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [7] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Brain, Eye and PNS. |
| [10] | "Identification of a novel member of human Mage-D subfamily genes." Zhang C. Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 60-741. |
| [11] | "Identification of new genes of the MAGE family." Lucas S., Boon T. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 497-627. Tissue: Testis. |
| [12] | "MAGED4-expression in renal cell carcinoma and identification of an HLA-A*25-restricted MHC class I ligand from solid tumor tissue." Kraemer B.F., Schoor O., Krueger T., Reichle C., Mueller M., Weinschenk T., Hennenlotter J., Stenzl A., Rammensee H.-G., Stevanovic S. Cancer Biol. Ther. 4:943-948(2005) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [13] | "MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases." Doyle J.M., Gao J., Wang J., Yang M., Potts P.R. Mol. Cell 39:963-974(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH TRIM27. |
| + | Additional computationally mapped references. |
Cross-references
Entry information
| Entry name | MAGD4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96JG8 Secondary accession number(s): A8K093 Q9H217 | ||||||||
| 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 X Human chromosome X: entries, gene names and cross-references to MIM |
| 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
