Reviewed,
UniProtKB/Swiss-Prot Q13336 (UT1_HUMAN)
Last modified
June 16, 2009.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Urea transporter, erythrocyte | ||||
| 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 | 389 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Specialized low-affinity urea transporter. Mediates urea transport in erythrocytes. |
| Subcellular location | |
| Tissue specificity | Erythrocytes. |
| Polymorphism | SLC14A1 is responsible for the Kidd blood group system. The molecular basis of the Jk(a)/Jk(b) blood group antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Transmembrane |
| Molecular function | Blood group antigen |
| PTM | Glycoprotein |
| Gene Ontology (GO) | |
| Biological process | urea transport Ref.1 Traceable author statement. Source: ProtInc |
| Cellular component | integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | ubiquitin-ubiquitin ligase activity Inferred from direct assay. Source: MGI urea transmembrane transporter activityTraceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 389 | 389 | Urea transporter, erythrocyte | PRO_0000065737 | |||||
Regions | |||||||||
| Transmembrane | 53 – 73 | 21 | Potential | ||||||
| Transmembrane | 78 – 98 | 21 | Potential | ||||||
| Transmembrane | 116 – 136 | 21 | Potential | ||||||
| Transmembrane | 143 – 163 | 21 | Potential | ||||||
| Transmembrane | 173 – 193 | 21 | Potential | ||||||
| Transmembrane | 243 – 263 | 21 | Potential | ||||||
| Transmembrane | 281 – 301 | 21 | Potential | ||||||
| Transmembrane | 310 – 330 | 21 | Potential | ||||||
| Transmembrane | 333 – 353 | 21 | Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 211 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 44 | 1 | E → K: dbSNP rs2298720. Ref.1 Ref.5 Ref.6 | VAR_022319 | |||||
| Natural variant | 167 | 1 | M → V: dbSNP rs2298719. Ref.7 | VAR_051483 | |||||
| Natural variant | 171 | 1 | W → R: dbSNP rs9948825. | VAR_051484 | |||||
| Natural variant | 280 | 1 | D → N in Jk(b). dbSNP rs1058396. | VAR_005669 | |||||
| Natural variant | 291 | 1 | S → P in Jk(null). | VAR_013752 | |||||
Experimental info | |||||||||
| Sequence conflict | 231 | 1 | G → GVG Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and functional expression of a urea transporter from human bone marrow cells." Olives B., Neau P., Bailly P., Hediger M.A., Rousselet G., Cartron J.-P., Ripoche P. J. Biol. Chem. 269:31649-31652(1994) [PubMed: 7989337] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LYS-44. Tissue: Bone marrow. |
| [2] | "RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation." Davey S., Beach D. Mol. Biol. Cell 6:1411-1421(1995) [PubMed: 8573795] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility." Olives B., Merriman M., Bailly P., Bain S., Barnett A., Todd T., Cartron J.-P., Merriman T. Hum. Mol. Genet. 6:1017-1020(1997) [PubMed: 9215669] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT JK(B) ASN-280. |
| [4] | "At physiological expression levels, the Kidd blood group/urea transporter protein is not a water channel." Sidoux-Walter F., Lucien N., Olives B., Gobin R., Rousselet G., Kamsteeg E.J., Ripoche P., Deen P.M.T., Cartron J.-P., Bailly P. J. Biol. Chem. 274:30228-30235(1999) [PubMed: 10514515] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Blood. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LYS-44. |
| [6] | SeattleSNPs variation discovery resource Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-44 AND ASN-280. |
| [7] | "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], VARIANTS VAL-167 AND ASN-280. Tissue: Colon. |
| [8] | "Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns." Sidoux-Walter F., Lucien N., Nissinen R., Sistonen P., Henry S., Moulds J., Cartron J.-P., Bailly P. Blood 96:1566-1573(2000) [PubMed: 10942407] [Abstract] Cited for: VARIANT JK(NULL) PRO-291. |
| [9] | "Genomic characterization of the Kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns." Irshaid N.M., Henry S.M., Olsson M.L. Transfusion 40:69-74(2000) [PubMed: 10644814] [Abstract] Cited for: VARIANT JK(NULL) PRO-291. |
| + | Additional computationally mapped references. |
Web resources
| dbRBC/BGMUT Blood group antigen gene mutation database |
| GeneReviews |
| SeattleSNPs |
Cross-references
Sequence databases | |
|---|---|
| L36121 mRNA. No translation available. U35735 mRNA. Translation: AAB00181.1. Y19039 mRNA. Translation: CAB60834.1. AK123681 mRNA. Translation: BAG53935.1. AY942197 Genomic DNA. Translation: AAX20112.1. BC050539 mRNA. Translation: AAH50539.1. | |
| IPI | IPI00298337. |
| PIR | A55662. |
| RefSeq | NP_001139508.2. NP_056949.2. |
| UniGene | Hs.101307 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q13336. |
Proteomic databases | |
| PRIDE | Q13336. |
Genome annotation databases | |
| Ensembl | ENSG00000141469. Homo sapiens. [Contig view] |
| GeneID | 6563. |
| NMPDR | fig|9606.3.peg.14984. |
Organism-specific databases | |
| GeneCards | GC18P041558. |
| H-InvDB | HIX0014423. |
| HGNC | HGNC:10918. SLC14A1. |
| MIM | 111000. gene. |
| PharmGKB | PA35810. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q13336. |
| HOVERGEN | Q13336. |
| OMA | Q13336. DSPTMVR. |
Gene expression databases | |
| ArrayExpress | Q13336. |
| Bgee | Q13336. |
| CleanEx | HS_SLC14A1. |
| GermOnline | ENSG00000141469. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004937. Urea_transporter. [Graphical view] |
| PANTHER | PTHR10464. Urea_transporter. 1 hit. |
| Pfam | PF03253. UT. 1 hit. [Graphical view] |
| PIRSF | PIRSF016502. Urea_transporter. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 25535. |
| SOURCE | Search... |
Entry information
| Entry name | UT1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13336 Secondary accession number(s): B3KVX3, Q86VM5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Blood group antigen proteins Nomenclature of blood group antigens and list of entries |
| Human chromosome 18 Human chromosome 18: 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 |

Clusters with


