Q6P2D8 (XRRA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 69.
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: X-ray radiation resistance-associated protein 1 | ||
| 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 | 792 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May be involved in the response of cells to X-ray radiation. Ref.3 |
| Subcellular location | |
| Tissue specificity | Expressed predominantly in testis followed by prostate and ovary. Low levels found in other tissues including peripheral blood leukocytes, spleen, thymus, small intestine and colon. Also expressed in neuroblastoma, glioma, breast, lung, leukemia, renal, ovarian, prostate and colorectal cancer cell lines. Ref.3 |
| Induction | By X-ray irradiation immediately after exposure and is then down-regulated two-fold in an X-ray radiation-resistant cell clone. Responds differently to X-ray radiation in clones of varying radiation responses. Ref.3 |
| Sequence similarities | Contains 6 LRR (leucine-rich) repeats. |
| Sequence caution | The sequence AAO23657.1 differs from that shown. Reason: Frameshift at position 327. The sequence AAP97315.1 differs from that shown. Reason: Frameshift at position 327. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Leucine-rich repeat Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | response to X-ray Inferred from direct assay Ref.3. Source: UniProtKB |
| Cellular component | cytoplasm Inferred from direct assay Ref.3. Source: UniProtKB nucleusInferred from direct assay Ref.3. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6P2D8-1) 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. | ||||||
| Note: Gene model based on mouse cDNA data. No experimental confirmation available. | ||||||
| Isoform 2 Ref.2 (identifier: Q6P2D8-2) The sequence of this isoform differs from the canonical sequence as follows: 327-413: Missing. 674-685: AQRIPIPPPKKT → VLSCTSGQNGGW 686-792: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 Ref.3 (identifier: Q6P2D8-3) The sequence of this isoform differs from the canonical sequence as follows: 327-340: Missing. | ||||||
| Isoform 4 Ref.4 (identifier: Q6P2D8-4) The sequence of this isoform differs from the canonical sequence as follows: 327-382: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 792 | 792 | X-ray radiation resistance-associated protein 1 | PRO_0000318130 | |||||
Regions | |||||||||
| Repeat | 104 – 125 | 22 | LRR 1 | ||||||
| Repeat | 141 – 155 | 15 | LRR 2 | ||||||
| Repeat | 164 – 184 | 21 | LRR 3 | ||||||
| Repeat | 188 – 209 | 22 | LRR 4 | ||||||
| Repeat | 229 – 250 | 22 | LRR 5 | ||||||
| Repeat | 254 – 275 | 22 | LRR 6 | ||||||
| Coiled coil | 723 – 745 | 23 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 327 – 413 | 87 | Missing in isoform 2. Ref.2 | VSP_052670 | |||||
| Alternative sequence | 327 – 382 | 56 | Missing in isoform 4. Ref.4 | VSP_052671 | |||||
| Alternative sequence | 327 – 340 | 14 | Missing in isoform 3. Ref.3 | VSP_052672 | |||||
| Alternative sequence | 674 – 685 | 12 | AQRIP…PPKKT → VLSCTSGQNGGW in isoform 2. Ref.2 | VSP_052673 | |||||
| Alternative sequence | 686 – 792 | 107 | Missing in isoform 2. Ref.2 | VSP_052674 | |||||
| Natural variant | 473 | 1 | T → R. Ref.2 Corresponds to variant rs4944960 [ dbSNP | Ensembl ]. | VAR_038693 | |||||
| Natural variant | 480 | 1 | K → E. Corresponds to variant rs12291445 [ dbSNP | Ensembl ]. | VAR_051492 | |||||
Experimental info | |||||||||
| Sequence conflict | 3 | 1 | F → L in AAH64584. Ref.2 | ||||||
| Sequence conflict | 356 | 1 | V → M in AAO23657. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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 2), VARIANT ARG-473. Tissue: Brain. |
| [3] | "Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis." Mesak F.M., Osada N., Hashimoto K., Liu Q.Y., Ng C.E. BMC Genomics 4:32-32(2003) [PubMed: 12908878] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 229-380 (ISOFORM 3), IDENTIFICATION (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION. Tissue: Colon cancer. |
| [4] | Guo J.H., Zan Q., Yu L. Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 293-792 (ISOFORM 4). |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AP000560 Genomic DNA. No translation available. AP001992 Genomic DNA. No translation available. BC064584 mRNA. Translation: AAH64584.1. AY163836 mRNA. Translation: AAO23657.1. Frameshift. AF439934 mRNA. Translation: AAP97315.1. Frameshift. BK000541 mRNA. Translation: DAA00367.1. |
| IPI | IPI00440153. IPI00853095. IPI00884929. IPI00884978. |
| RefSeq | NP_892014.1. NM_182969.1. |
| UniGene | Hs.370145. |
3D structure databases | |
| ProteinModelPortal | Q6P2D8. |
| SMR | Q6P2D8. Positions 104-269, 369-410. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q6P2D8. |
Polymorphism databases | |
| DMDM | 166919153. |
Proteomic databases | |
| PRIDE | Q6P2D8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000321448; ENSP00000319303; ENSG00000166435. |
| GeneID | 143570. |
| KEGG | hsa:143570. |
| UCSC | uc001ovp.2. human. uc001ovq.2. human. uc009yub.1. human. |
Organism-specific databases | |
| CTD | 143570. |
| GeneCards | GC11M074551. |
| H-InvDB | HIX0009938. |
| HGNC | HGNC:18868. XRRA1. |
| HPA | HPA039474. |
| MIM | 609788. gene. |
| neXtProt | NX_Q6P2D8. |
| PharmGKB | PA134988069. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG505379. |
| HOVERGEN | HBG108685. |
| InParanoid | Q6P2D8. |
| OMA | DEFCQEP. |
| PhylomeDB | Q6P2D8. |
Gene expression databases | |
| ArrayExpress | Q6P2D8. |
| Bgee | Q6P2D8. |
| CleanEx | HS_XRRA1. |
| Genevestigator | Q6P2D8. |
Family and domain databases | |
| InterPro | IPR001611. Leu-rich_rpt. [Graphical view] |
| Pfam | PF00560. LRR_1. 1 hit. [Graphical view] |
| PROSITE | PS51450. LRR. 6 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 84744. |
| SOURCE | Search... |
Entry information
| Entry name | XRRA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6P2D8 Secondary accession number(s): B5MD90 Q7Z4U0 | ||||||||
| 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 11 Human chromosome 11: 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