P55808 (XG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycoprotein Xg

Alternative name(s):
Protein PBDX

Gene names

Name:	XG
Synonyms:	PBDX

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	180 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Cell membrane; Single-pass type I membrane protein Ref.6.
Tissue specificity	Expressed in erythroid tissues, including thymus, bone marrow and fetal liver, and in several nonerythroid tissues, such as heart, placenta, skeletal muscle, thyroid and trachea, as well as in skin fibroblasts. Expression is low or undetectable in other tissues. Ref.7
Post-translational modification	O-glycosylated Probable.
Polymorphism	XG is responsible for the Xg blood group system.
Miscellaneous	The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
Sequence similarities	Belongs to the CD99 family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Blood group antigen
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to plasma membrane Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: P55808-1)

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: P55808-2)

The sequence of this isoform differs from the canonical sequence as follows:
     85-85: G → GS

Note: No experimental confirmation available.

Isoform 3 (identifier: P55808-3)

The sequence of this isoform differs from the canonical sequence as follows:
     125-125: G → GRGGYRLNSRYGNTYG

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 180	159	Glycoprotein Xg		PRO_0000022693
Regions
	Topological domain	22 – 142	121	Extracellular Potential
	Transmembrane	143 – 163	21	Helical; Potential
	Topological domain	164 – 180	17	Cytoplasmic Potential
Natural variations
	Alternative sequence	85	1	G → GS in isoform 2.		VSP_037319
	Alternative sequence	125	1	G → GRGGYRLNSRYGNTYG in isoform 3.		VSP_037320
	Natural variant	60	1	D → N. Ref.5 Corresponds to variant rs5939319 [ dbSNP | Ensembl ].		VAR_054063
Experimental info
Isoform 3:
	Sequence conflict	131	1	L → P in AAI00766. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1997. Version 1. Checksum: DADAA9E6859C4530	FASTA	180	19,723
	10 20 30 40 50 60 MESWWGLPCL AFLCFLMHAR GQRDFDLADA LDDPEPTKKP NSDIYPKPKP PYYPQPENPD 70 80 90 100 110 120 SGGNIYPRPK PRPQPQPGNS GNSGGYFNDV DRDDGRYPPR PRPRPPAGGG GGGYSSYGNS 130 140 150 160 170 180 DNTHGGDHHS TYGNPEGNMV AKIVSPIVSV VVVTLLGAAA SYFKLNNRRN CFRTHEPENV
	Isoform 2 [UniParc]. Checksum: 8B4531340686355C	FASTA	181	19,810
	10 20 30 40 50 60 MESWWGLPCL AFLCFLMHAR GQRDFDLADA LDDPEPTKKP NSDIYPKPKP PYYPQPENPD 70 80 90 100 110 120 SGGNIYPRPK PRPQPQPGNS GNSGGSYFND VDRDDGRYPP RPRPRPPAGG GGGGYSSYGN 130 140 150 160 170 180 SDNTHGGDHH STYGNPEGNM VAKIVSPIVS VVVVTLLGAA ASYFKLNNRR NCFRTHEPEN V
	Isoform 3 [UniParc]. Checksum: B823CA02B7EEB8DF	FASTA	195	21,439
	10 20 30 40 50 60 MESWWGLPCL AFLCFLMHAR GQRDFDLADA LDDPEPTKKP NSDIYPKPKP PYYPQPENPD 70 80 90 100 110 120 SGGNIYPRPK PRPQPQPGNS GNSGGYFNDV DRDDGRYPPR PRPRPPAGGG GGGYSSYGNS 130 140 150 160 170 180 DNTHGRGGYR LNSRYGNTYG GDHHSTYGNP EGNMVAKIVS PIVSVVVVTL LGAAASYFKL 190 NNRRNCFRTH EPENV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp." Ellis N.A., Ye T.Z., Patton S., German J., Goodfellow P.N., Weller P. Nat. Genet. 6:394-400(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Bone marrow.
[2]	"Identification of PBDX gene highly expressed in human cornea." Naoko S., Fujiki K., Kanai A., Tanaka Y., Iwata T. Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"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].
[4]	Naoko S., Tanaka Y., Iwata T. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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] (ISOFORMS 1; 2 AND 3), VARIANT ASN-60.
[6]	"PBDX is the XG blood group gene." Ellis N.A., Tippett P., Petty A., Reid M., Weller P.A., Ye T.Z., German J., Goodfellow P.N., Thomas S., Banting G. Nat. Genet. 8:285-290(1994) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"A study of the coregulation and tissue specificity of XG and MIC2 gene expression in eukaryotic cells." Fouchet C., Gane P., Huet M., Fellous M., Rouger P., Banting G., Cartron J.P., Lopez C. Blood 95:1819-1826(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

Cross-references

Sequence databases
EMBL GenBank DDBJ	X96421 Genomic DNA. No translation available. AF380356 mRNA. Translation: AAL04055.1. AF534880 mRNA. Translation: AAN03481.1. AC006209 Genomic DNA. No translation available. AC138085 Genomic DNA. No translation available. BC100765 mRNA. Translation: AAI00766.1. BC100766 mRNA. Translation: AAI00767.1. BC100767 mRNA. Translation: AAI00768.1.
IPI	IPI00026514. IPI00844291. IPI00915408.
PIR	S43791.
RefSeq	NP_001135391.1. NM_001141919.1. NP_001135392.1. NM_001141920.1. NP_780778.1. NM_175569.2.
UniGene	Hs.179675.
3D structure databases
ProteinModelPortal	P55808.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000411004.
PTM databases
PhosphoSite	P55808.
Polymorphism databases
DMDM	2499136.
Proteomic databases
PaxDb	P55808.
PRIDE	P55808.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000381174; ENSP00000370566; ENSG00000124343. ENST00000419513; ENSP00000411004; ENSG00000124343. ENST00000426774; ENSP00000398503; ENSG00000124343.
GeneID	7499.
KEGG	hsa:7499.
UCSC	uc004cqp.3. human. uc011mhg.2. human.
Organism-specific databases
CTD	7499.
GeneCards	GC0XP002663.
H-InvDB	HIX0213635.
HGNC	HGNC:12806. XG.
HPA	HPA021539.
MIM	300879. gene. 314700. phenotype.
neXtProt	NX_P55808.
PharmGKB	PA37405.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG124417.
HOGENOM	HOG000233665.
HOVERGEN	HBG086239.
OMA	GGNIYPR.
OrthoDB	EOG4PK29G.
Gene expression databases
ArrayExpress	P55808.
Bgee	P55808.
CleanEx	HS_XG.
Genevestigator	P55808.
GermOnline	ENSG00000124343. Homo sapiens.
Family and domain databases
InterPro	IPR022078. CD99L2. [Graphical view]
Pfam	PF12301. CD99L2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	XG. human.
GenomeRNAi	7499.
NextBio	29368.
SOURCE	Search...

Entry information

Entry name

XG_HUMAN

Accession

Primary (citable) accession number: P55808
Secondary accession number(s): E9PCH1 , Q496N8, Q496N9, Q496P0, Q71BZ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1997
Last modified:	April 3, 2013
This is version 99 of the entry and version 1 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.