Reviewed, UniProtKB/Swiss-Prot Q9HD64 (GAGD2_HUMAN)

Names and origin

Protein names

Recommended name:
    G antigen family D member 2
Alternative name(s):
    Protein XAGE-1
    Cancer/testis antigen 12.1
      Short name=CT12.1

Gene names

Name:	XAGE1
Synonyms:	GAGED2, XAGE1A
AND
Name:	XAGE1B
AND
Name:	XAGE1C
AND
Name:	XAGE1D
AND
Name:	XAGE1E

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	160 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Unknown.
Tissue specificity	In normal tissues, highly expressed in testis. Expressed also in many different types of cancers: highly expressed in breast cancer, prostate cancer and many types of lung cancers, including squamous cell carcinoma, small cell carcinoma, non-small cell carcinoma, and adenocarcinoma, as well as in Ewing's cell lines, in some Ewing's sarcoma patient samples, and in one of one alveolar rhabdomyosarcoma patient sample. Ref.6
Sequence similarities	Belongs to the GAGE family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform C (identifier: Q9HD64-3)

Also known as: XAGE-1c;

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 B (identifier: Q9HD64-2)

Also known as: XAGE-1a; XAGE-1b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.

Note: XAGE-1a and XAGE-1b mRNAs are produced by alternative promoter usage. However, for both isoforms, the translation initiator codon remains the same, generating an identical protein. XAGE-1b is the predominant transcript, compared to XAGE-1a.

Isoform D (identifier: Q9HD64-4)

Also known as: XAGE-1d;

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
     112-160: CATWKVICKS...PEAGEEQPQV → VLGREMRDME...GFRRQGEDNT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 160	160	G antigen family D member 2		PRO_0000148349
Natural variations
	Alternative sequence	1 – 79	79	Missing in isoform B and isoform D.		VSP_001595
	Alternative sequence	112 – 160	49	CATWK…EQPQV → VLGREMRDMEGDLQELHQSN TGDKSGFGFRRQGEDNT in isoform D.		VSP_001596

Sequences

	Sequence		Length	Mass (Da)
	Isoform C (XAGE-1c) [UniParc]. Last modified July 19, 2004. Version 2. Checksum: 8EF00D22A67008A7	FASTA	160	17,751
	10 20 30 40 50 60 MRCHAHGPSC LVTAITREEG GPRSGGAQAK LGCCWGYPSP RSTWNPDRRF WTPQTGPGEG 70 80 90 100 110 120 RHERHTQTQN HTASPRSPVM ESPKKKNQQL KVGILHLGSR QKKIRIQLRS QCATWKVICK 130 140 150 160 SCISQTPGIN LDLGSGVKVK IIPKEEHCKM PEAGEEQPQV
	Isoform B (XAGE-1a) (XAGE-1b). Checksum: C73337C4C94C01D1	FASTA	81	9,078
	10 20 30 40 50 60 MESPKKKNQQ LKVGILHLGS RQKKIRIQLR SQCATWKVIC KSCISQTPGI NLDLGSGVKV 70 80 KIIPKEEHCK MPEAGEEQPQ V
	Isoform D (XAGE-1d). Checksum: 0480A160F893AF81	FASTA	69	7,965
	10 20 30 40 50 60 MESPKKKNQQ LKVGILHLGS RQKKIRIQLR SQVLGREMRD MEGDLQELHQ SNTGDKSGFG FRRQGEDNT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"XAGE-1, a new gene that is frequently expressed in Ewing's sarcoma." Liu X.F., Helman L.J., Yeung C., Bera T.K., Lee B., Pastan I. Cancer Res. 60:4752-4755(2000) [PubMed: 10987281] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B). Tissue: Testis.
[2]	"The XAGE family of cancer/testis-associated genes: alignment and expression profile in normal tissues, melanoma lesions and Ewing's sarcoma." Zendman A.J.W., van Kraats A.A., Weidle U.H., Ruiter D.J., van Muijen G.N.P. Int. J. Cancer 99:361-369(2002) [PubMed: 11992404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS B; C AND D).
[3]	"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] (ISOFORM B).
[4]	"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. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 B). Tissue: Lung.
[6]	"Characterization of overlapping XAGE-1 transcripts encoding a cancer testis antigen expressed in lung, breast, and other types of cancers." Egland K.A., Kumar V., Duray P., Pastan I. Mol. Cancer Ther. 1:441-450(2002) [PubMed: 12479262] [Abstract] Cited for: TISSUE SPECIFICITY, ISOFORM B INITIATOR METHIONINE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF251237 mRNA. Translation: AAG01401.1. Different initiation. AJ318878 mRNA. Translation: CAC82986.1. AJ318879 mRNA. Translation: CAC82987.1. AJ290447 mRNA. Translation: CAC38107.1. BT007099 mRNA. Translation: AAP35763.1. AJ400997 Genomic DNA. Translation: CAC38108.1. AL772246 Genomic DNA. Translation: CAI41526.1. AL772246 Genomic DNA. Translation: CAI41528.1. AL772246 Genomic DNA. Translation: CAI41530.1. AL772246 Genomic DNA. Translation: CAI41531.1. AL772246 Genomic DNA. Translation: CAI41533.1. AL772246 Genomic DNA. Translation: CAI41534.1. BX088602 Genomic DNA. Translation: CAI40888.1. BX088602 Genomic DNA. Translation: CAI40890.1. BX088602 Genomic DNA. Translation: CAI40894.1. BX088602 Genomic DNA. Translation: CAI40895.1. BC009538 mRNA. Translation: AAH09538.1.
IPI	IPI00006982. IPI00219938. IPI00219939.
RefSeq	NP_001091060.1. NP_001091064.1. NP_001091071.1. NP_001091072.1. NP_065144.1. NP_597673.1. NP_597674.1.
UniGene	Hs.112208 Hs.546096
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q9HD64.
Genome annotation databases
Ensembl	ENSG00000183461. Homo sapiens. [Contig view] ENSG00000204375. Homo sapiens. [Contig view] ENSG00000204376. Homo sapiens. [Contig view] ENSG00000204379. Homo sapiens. [Contig view] ENSG00000204382. Homo sapiens. [Contig view]
GeneID	653048. 653067. 653219. 653220. 9503.
KEGG	hsa:653067. hsa:653219.
Organism-specific databases
GeneCards	GC0XM052545. GC0XM052561. GC0XP052257. GC0XP052529. GC0XP052532.
H-InvDB	HIX0020425. HIX0077113. HIX0077114. HIX0077115. HIX0077116.
HGNC	HGNC:4111. XAGE1. HGNC:25400. XAGE1B. HGNC:30679. XAGE1C. HGNC:21508. XAGE1D. HGNC:18372. XAGE1E.
MIM	300289. gene.
PharmGKB	PA28526.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9HD64.
HOVERGEN	Q9HD64.
Gene expression databases
Bgee	Q9HD64.
CleanEx	HS_XAGE1D.
GermOnline	ENSG00000183461. Homo sapiens. ENSG00000204375. Homo sapiens. ENSG00000204376. Homo sapiens. ENSG00000204379. Homo sapiens. ENSG00000204382. Homo sapiens.
Family and domain databases
InterPro	IPR008625. GAGE. [Graphical view]
Pfam	PF05831. GAGE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	122635.
SOURCE	Search...

Entry information

Entry name

GAGD2_HUMAN

Accession

Primary (citable) accession number: Q9HD64
Secondary accession number(s): A6NJ94 , Q5JPP0, Q5JPP3, Q8WWG5, Q8WWG6, Q969J6

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	July 19, 2004
Last modified:	June 16, 2009
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)