Q9HD64 (XAGE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
X antigen family member 1
Short name=XAGE-1

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

Gene names

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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	81 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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 Ref.7
Miscellaneous	According to Ref.2, the transcription of XAGE1A is regulated by methylation of the CpG island in the promoter, and four alternative RNA splicing variants, XAGE-1a, b, c have been identified.
Sequence similarities	Belongs to the GAGE family.
Caution	Ref.7, examines the translation products of theses four XAGE1A transcripts, and finds that the XAGE-1c transcript is possibly translated to 9- and 17-aa polypeptides and not to a protein consisting of 160 amino acids as shown in Ref.2.
Sequence caution	The sequence AAG01401.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAH09538.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAC82986.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAI40888.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI40895.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41526.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41531.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41534.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform B (identifier: Q9HD64-2)

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

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.

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:
     33-81: CATWKVICKS...PEAGEEQPQV → VLGREMRDME...GFRRQGEDNT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 81	81	X antigen family member 1		PRO_0000148349
Natural variations
	Alternative sequence	33 – 81	49	CATWK…EQPQV → VLGREMRDMEGDLQELHQSN TGDKSGFGFRRQGEDNT in isoform D.		VSP_001596

Sequences

	Sequence		Length	Mass (Da)
	Isoform B (XAGE-1a) (XAGE-1b) [UniParc]. Last modified May 31, 2011. Version 3. 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) [UniParc]. 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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS B 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, IDENTIFICATION OF INITIATOR METHIONINE (ISOFORM B).
[7]	"Identification of XAGE-1 isoforms: predominant expression of XAGE-1b in testis and tumors." Sato S., Noguchi Y., Ohara N., Uenaka A., Shimono M., Nakagawa K., Koizumi F., Ishida T., Yoshino T., Shiratori Y., Nakayama E. Cancer Immun. 7:5-5(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING (ISOFORMS B AND D), IDENTIFICATION OF INITIATOR METHIONINE (ISOFORM B).

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF251237 mRNA. Translation: AAG01401.1. Different initiation. AJ290447 mRNA. Translation: CAC38107.1. AJ400997 Genomic DNA. Translation: CAC38108.1. AJ318878 mRNA. Translation: CAC82986.1. Different initiation. AJ318879 mRNA. Translation: CAC82987.1. BT007099 mRNA. Translation: AAP35763.1. AL772246 Genomic DNA. Translation: CAI41526.1. Sequence problems. AL772246 Genomic DNA. Translation: CAI41527.1. AL772246 Genomic DNA. Translation: CAI41528.1. AL772246 Genomic DNA. Translation: CAI41530.1. AL772246 Genomic DNA. Translation: CAI41531.1. Sequence problems. AL772246 Genomic DNA. Translation: CAI41532.1. AL772246 Genomic DNA. Translation: CAI41533.1. AL772246 Genomic DNA. Translation: CAI41534.1. Sequence problems. BX088602 Genomic DNA. Translation: CAI40888.1. Sequence problems. BX088602 Genomic DNA. Translation: CAI40889.1. BX088602 Genomic DNA. Translation: CAI40890.1. BX088602 Genomic DNA. Translation: CAI40893.1. BX088602 Genomic DNA. Translation: CAI40894.1. BX088602 Genomic DNA. Translation: CAI40895.1. Sequence problems. BC009538 mRNA. Translation: AAH09538.2. Different initiation.
IPI	IPI00006982. IPI00219939.
RefSeq	NP_001091061.2. NM_001097592.2. NP_001091062.1. NM_001097593.2. NP_001091063.2. NM_001097594.2. NP_001091065.1. NM_001097596.2. NP_001091066.2. NM_001097597.2. NP_001091067.1. NM_001097598.2. NP_001091073.2. NM_001097604.2. NP_001091074.1. NM_001097605.2. NP_065144.2. NM_020411.2. NP_597673.1. NM_133430.2.
UniGene	Hs.112208. Hs.546096. Hs.584511.
3D structure databases
ProteinModelPortal	Q9HD64.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HD64. 1 interaction.
STRING	9606.ENSP00000342190.
PTM databases
PhosphoSite	Q9HD64.
Polymorphism databases
DMDM	50403800.
Proteomic databases
PaxDb	Q9HD64.
PRIDE	Q9HD64.
Protocols and materials databases
DNASU	9503.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374959; ENSP00000364097; ENSG00000204376. ENST00000375567; ENSP00000364717; ENSG00000204375. ENST00000375570; ENSP00000364720; ENSG00000204375. ENST00000375578; ENSP00000364728; ENSG00000204376. ENST00000375588; ENSP00000364738; ENSG00000183461. ENST00000375589; ENSP00000364739; ENSG00000183461. ENST00000375600; ENSP00000364750; ENSG00000204379. ENST00000375602; ENSP00000364752; ENSG00000204379. ENST00000375613; ENSP00000364763; ENSG00000204382. ENST00000375616; ENSP00000364766; ENSG00000204382. ENST00000396497; ENSP00000379755; ENSG00000204376. ENST00000399795; ENSP00000382693; ENSG00000183461. ENST00000399800; ENSP00000382698; ENSG00000204379. ENST00000399805; ENSP00000382704; ENSG00000204382. ENST00000429372; ENSP00000389983; ENSG00000204375. ENST00000437949; ENSP00000388178; ENSG00000204382. ENST00000438079; ENSP00000389220; ENSG00000204376. ENST00000441417; ENSP00000413903; ENSG00000204379. ENST00000446098; ENSP00000409639; ENSG00000183461. ENST00000518075; ENSP00000430130; ENSG00000204382. ENST00000594178; ENSP00000470774; ENSG00000262401. ENST00000596140; ENSP00000469498; ENSG00000262401. ENST00000597159; ENSP00000470293; ENSG00000262401. ENST00000597405; ENSP00000470080; ENSG00000269805. ENST00000597878; ENSP00000472622; ENSG00000269805. ENST00000598106; ENSP00000471993; ENSG00000262401. ENST00000600138; ENSP00000469109; ENSG00000269805. ENST00000600638; ENSP00000469147; ENSG00000262401. ENST00000602068; ENSP00000469100; ENSG00000269805.
GeneID	653048. 653067. 653219. 653220. 9503.
KEGG	hsa:653048. hsa:653067. hsa:653219. hsa:653220. hsa:9503.
UCSC	uc004dqf.3. human. uc004dqg.3. human.
Organism-specific databases
CTD	653048. 653067. 653219. 653220. 9503.
GeneCards	GC0XM052255. GC0XM052545. GC0XM052559. GC0XP052239. GC0XP052511.
HGNC	HGNC:4111. XAGE1A. HGNC:25400. XAGE1B. HGNC:30679. XAGE1C. HGNC:21508. XAGE1D. HGNC:18372. XAGE1E.
MIM	300289. gene. 300742. gene. 300743. gene. 300744. gene. 300745. gene.
neXtProt	NX_Q9HD64.
PharmGKB	PA28526.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG81371.
InParanoid	Q9HD64.
OrthoDB	EOG48SGV6.
Gene expression databases
Bgee	Q9HD64.
CleanEx	HS_XAGE1D.
Genevestigator	Q9HD64.
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
NextBio	122635.
SOURCE	Search...

Entry information

Entry name

XAGE1_HUMAN

Accession

Primary (citable) accession number: Q9HD64
Secondary accession number(s): A6NJ94 , Q5JPN8, Q5JPP0, Q5JPP3, Q8WWG5, Q8WWG6, Q969J6

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	May 31, 2011
Last modified:	May 1, 2013
This is version 102 of the entry and version 3 of the sequence. [Complete history]

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.