Q96JG8 (MAGD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 81.
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) | |||||||
| 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 transcript level |
General annotation (Comments)
| 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 | |
|---|---|
| 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: 11406556] [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: 11602350] [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: 11230166] [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: 11347906] [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: 12168954] [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: 14702039] [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: 15772651] [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: 15489334] [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: 16082191] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB040527 mRNA. Translation: BAB33378.1. AB040528 mRNA. Translation: BAB33379.1. AB040529 mRNA. Translation: BAB33380.1. AB056059 Genomic DNA. Translation: BAB61778.1. AB056059 Genomic DNA. Translation: BAB61779.1. AB056059 Genomic DNA. Translation: BAB61780.1. AL136582 mRNA. Translation: CAB66517.1. AB058762 mRNA. Translation: BAB47488.2. Different initiation. AK289458 mRNA. Translation: BAF82147.1. AL928717 Genomic DNA. Translation: CAI40426.1. BX537154 Genomic DNA. Translation: CAI41307.1. CH471230 Genomic DNA. Translation: EAW62885.1. BC001207 mRNA. Translation: AAH01207.1. Different initiation. BC063838 mRNA. Translation: AAH63838.1. BC081566 mRNA. Translation: AAH81566.1. AF329733 mRNA. Translation: AAL50032.1. Frameshift. AF320908 mRNA. Translation: AAG38604.1. |
| IPI | IPI00335512. IPI00387072. IPI00396651. IPI00902794. |
| RefSeq | NP_001092270.1. NM_001098800.1. NP_001229291.1. NM_001242362.1. NP_110428.2. NM_030801.3. NP_803879.1. NM_177535.2. NP_803881.1. NM_177537.2. |
| UniGene | Hs.522650. Hs.571729. |
3D structure databases | |
| ProteinModelPortal | Q96JG8. |
| SMR | Q96JG8. Positions 407-615. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96JG8. 2 interactions. |
| STRING | Q96JG8. |
Polymorphism databases | |
| DMDM | 41017391. |
Proteomic databases | |
| PRIDE | Q96JG8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000335504; ENSP00000335385; ENSG00000187243. |
| GeneID | 728239. 81557. |
| KEGG | hsa:728239. hsa:81557. |
| UCSC | uc004dpr.2. human. uc004dpv.2. human. |
Organism-specific databases | |
| CTD | 728239. 81557. |
| GeneCards | GC0XM051822. GC0XP051927. |
| HGNC | HGNC:23793. MAGED4. HGNC:22880. MAGED4B. |
| HPA | HPA003554. |
| MIM | 300702. gene. 300765. gene. |
| neXtProt | NX_Q96JG8. |
| PharmGKB | PA145148472. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG12329. |
| GeneTree | ENSGT00560000076930. |
| HOVERGEN | HBG003714. |
| InParanoid | Q96JG8. |
| OMA | VRHPFLG. |
| PhylomeDB | Q96JG8. |
Gene expression databases | |
| Bgee | Q96JG8. |
| CleanEx | HS_MAGED4. HS_MAGEE1. |
| Genevestigator | Q96JG8. |
| GermOnline | ENSG00000154545. Homo sapiens. ENSG00000187243. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002190. MAGE. [Graphical view] |
| PANTHER | PTHR11736. MAGE. 1 hit. |
| Pfam | PF01454. MAGE. 1 hit. [Graphical view] |
| PROSITE | PS50838. MAGE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 71822. |
| SOURCE | Search... |
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