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UniProtKB/Swiss-Prot entry Q13336


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name UT1_HUMAN
Primary accession number Q13336
Secondary accession number Q86VM5
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on December 15, 1998 (Sequence version 2)
Annotations were last modified on    September 2, 2008 (Entry version 69)
Name and origin of the protein
Protein name Urea transporter, erythrocyte
Synonyms None
Gene name
Name: SLC14A1
Synonyms: HUT11, JK, RACH1, UT1, UTE
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT LYS-44.
TISSUE=Bone marrow;
PubMed=7989337 [NCBI, ExPASy, EBI, Israel, Japan]
Olives B., Neau P., Bailly P., Hediger M.A., Rousselet G., Cartron J.-P., Ripoche P.;
"Cloning and functional expression of a urea transporter from human bone marrow cells.";
J. Biol. Chem. 269:31649-31652(1994).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=8573795 [NCBI, ExPASy, EBI, Israel, Japan]
Davey S., Beach D.;
"RACH2, a novel human gene that complements a fission yeast cell cycle checkpoint mutation.";
Mol. Biol. Cell 6:1411-1421(1995).
[3]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT JK(B) ASN-280.
DOI=10.1093/hmg/6.7.1017; PubMed=9215669 [NCBI, ExPASy, EBI, Israel, Japan]
Olives B., Merriman M., Bailly P., Bain S., Barnett A., Todd T., Cartron J.-P., Merriman T.;
"The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.";
Hum. Mol. Genet. 6:1017-1020(1997).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Blood;
DOI=10.1074/jbc.274.42.30228; PubMed=10514515 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"At physiological expression levels, the Kidd blood group/urea transporter protein is not a water channel.";
J. Biol. Chem. 274:30228-30235(1999).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LYS-44 AND ASN-280.
SeattleSNPs program for genomic applications;
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-280.
TISSUE=Colon;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
VARIANT JK(NULL) PRO-291.
PubMed=10942407 [NCBI, ExPASy, EBI, Israel, Japan]
Sidoux-Walter F., Lucien N., Nissinen R., Sistonen P., Henry S., Moulds J., Cartron J.-P., Bailly P.;
"Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns.";
Blood 96:1566-1573(2000).
[8]
VARIANT JK(NULL) PRO-291.
DOI=10.1046/j.1537-2995.2000.40010069.x; PubMed=10644814 [NCBI, ExPASy, EBI, Israel, Japan]
Irshaid N.M., Henry S.M., Olsson M.L.;
"Genomic characterization of the Kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns.";
Transfusion 40:69-74(2000).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
L36121; -; NOT_ANNOTATED_CDS; mRNA.[EMBL / GenBank / DDBJ]
U35735; AAB00181.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Y19039; CAB60834.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY942197; AAX20112.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC050539; AAH50539.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A55662; A55662.
RefSeq NP_056949.2; -.
UniGene Hs.101307
3D structure databases
ModBase Q13336.
Organism-specific databases
H-InvDB HIX0014423; -.
HGNC HGNC:10918; SLC14A1.
GenAtlas SLC14A1.
MIM 111000; gene. [NCBI / EBI]
PharmGKB PA35810; -.
GeneCards Q13336.
Gene expression databases
ArrayExpress Q13336; -.
CleanEx HS_SLC14A1; -.
GermOnline ENSG00000141469; Homo sapiens.
Ontologies
GO
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from ProtInc).
GO:0015204; Molecular function: urea transmembrane transporter activity (traceable author statement from ProtInc).
GO:0015840; Biological process: urea transport (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR004937; Urea_transporter.
Graphical view of domain structure.
PANTHER PTHR10464; Urea_transporter; 1.
Pfam PF03253; UT; 1.
Pfam graphical view of domain structure.
PIRSF PIRSF016502; Urea_transporter; 1.
BLOCKS Q13336.
Genome annotation databases
Ensembl ENSG00000141469; Homo sapiens. [Contig view]
GeneID 6563; -.
NMPDR fig|9606.3.peg.14984; -.
Phylogenomic databases
HOGENOM Q13336; -.
HOVERGEN Q13336; -.
Other
SOURCE SLC14A1; Homo sapiens.
ProtoNet Q13336.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Blood group antigen; Glycoprotein; Membrane; Polymorphism; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   389  389     Urea transporter, erythrocyte. PRO_0000065737
TRANSMEM   53    73  21     Potential. 
TRANSMEM   78    98  21     Potential. 
TRANSMEM   116   136  21     Potential. 
TRANSMEM   143   163  21     Potential. 
TRANSMEM   173   193  21     Potential. 
TRANSMEM   243   263  21     Potential. 
TRANSMEM   281   301  21     Potential. 
TRANSMEM   310   330  21     Potential. 
TRANSMEM   333   353  21     Potential. 
CARBOHYD   211   211        N-linked (GlcNAc...) (Potential). 
VARIANT   44    44  1     E -> K. VAR_022319 
VARIANT   280   280  1     D -> N (in Jk(b); dbSNP:rs1058396 [NCBI]). VAR_005669 
VARIANT   291   291  1     S -> P (in Jk(null)). VAR_013752 
CONFLICT   167   167        M -> V (in Ref. 6; AAH50539). 
CONFLICT   231   231        G -> GVG (in Ref. 1). 
Sequence information
Length: 389 AA [This is the length of the unprocessed precursor] Molecular weight: 42528 Da [This is the MW of the unprocessed precursor] CRC64: 08625B8B66C310F2 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID 

        70         80         90        100        110        120 
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG 

       130        140        150        160        170        180 
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF 

       190        200        210        220        230        240 
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW 

       250        260        270        280        290        300 
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM 

       310        320        330        340        350        360 
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY 

       370        380 
KMPLSKVTYP EENRIFYLQA KKRMVESPL 

Q13336 in FASTA format

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