P55808 (XG_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 88.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Glycoprotein Xg Alternative name(s): Protein PBDX | ||||
| Gene names |
| ||||
| 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 | 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 | |
| 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 membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| 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 | ||||
| Sequence conflict | 131 | 1 | L → P in AAI00766. Ref.5 | ||||||
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 | |||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide '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: 8054981] [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. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [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: 15489334] [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: 7533029] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| + | 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 | P55808. |
PTM databases | |
| PhosphoSite | P55808. |
Polymorphism databases | |
| DMDM | 2499136. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000381174; ENSP00000370566; ENSG00000124343. |
| GeneID | 7499. |
| KEGG | hsa:7499. |
| NMPDR | fig|9606.3.peg.32391. |
| UCSC | uc004cqq.1. human. |
Organism-specific databases | |
| CTD | 7499. |
| GeneCards | GC0XP002663. |
| H-InvDB | HIX0056172. |
| HGNC | HGNC:12806. XG. |
| HPA | HPA021539. |
| MIM | 314700. gene+phenotype. |
| neXtProt | NX_P55808. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG20237. |
| HOVERGEN | HBG086239. |
| 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 | |
| NextBio | 29368. |
| SOURCE | Search... |
Entry information
| Entry name | XG_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P55808 Secondary accession number(s): E9PCH1 Q71BZ5 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Blood group antigen proteins Nomenclature of blood group antigens and list of entries |
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| 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