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Q13336 (UT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Urea transporter 1
Alternative name(s):
Solute carrier family 14 member 1
Urea transporter, erythrocyte
Gene names
Name:SLC14A1
Synonyms:HUT11, JK, RACH1, UT1, UTE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length389 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Mediates urea transport in erythrocytes By similarity. Low-affinity facilitative urea transporter that allow rapid equilibration between the urinary space and the hyperosmotic interstitium. the rate of urea conduction is increased by hypoosmotic stress.

Subunit structure

Homotrimer By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity. Basolateral cell membrane By similarity.

Tissue specificity

Erythrocytes.

Polymorphism

SLC14A1 is responsible for the Kidd blood group system (JK) [MIM:111000]. JK is defined by 2 alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null) phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any obvious clinical syndrome except for a urine concentration defect.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13336-1)

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: Q13336-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAM

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 389389Urea transporter 1
PRO_0000065737

Regions

Transmembrane53 – 7321Helical; Potential
Transmembrane78 – 9821Helical; Potential
Transmembrane116 – 13621Helical; Potential
Transmembrane143 – 16321Helical; Potential
Transmembrane173 – 19321Helical; Potential
Transmembrane243 – 26321Helical; Potential
Transmembrane281 – 30121Helical; Potential
Transmembrane310 – 33021Helical; Potential
Transmembrane333 – 35321Helical; Potential

Amino acid modifications

Glycosylation2111N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11M → MNGRSLIGGAGDARHGPVWK DPFGTKAGDAARRGIARLSL ALADGSQEQEPEEEIAM in isoform 2.
VSP_041573
Natural variant441E → K. Ref.1 Ref.5 Ref.6
Corresponds to variant rs2298720 [ dbSNP | Ensembl ].
VAR_022319
Natural variant741N → K in Jk(null). Ref.12
VAR_065466
Natural variant1671M → V in Jk(null). Ref.7 Ref.12
Corresponds to variant rs2298719 [ dbSNP | Ensembl ].
VAR_051483
Natural variant1711W → R.
Corresponds to variant rs9948825 [ dbSNP | Ensembl ].
VAR_051484
Natural variant2801D → N in Jk(b). Ref.3 Ref.6 Ref.7 Ref.8
Corresponds to variant rs1058396 [ dbSNP | Ensembl ].
VAR_005669
Natural variant2911S → P in Jk(null). Ref.10 Ref.11
Corresponds to variant rs78242949 [ dbSNP | Ensembl ].
VAR_013752
Natural variant2991G → E in Jk(null). Ref.12
VAR_065467
Natural variant3191T → M in Jk(null). Ref.9
VAR_065468

Experimental info

Sequence conflict491L → M in BAF82297. Ref.5
Sequence conflict641R → Q in ACV91713. Ref.8
Sequence conflict2311G → GVG Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 15, 1998. Version 2.
Checksum: 08625B8B66C310F2

FASTA38942,528
        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 

« Hide

Isoform 2 [UniParc].

Checksum: CDCB118E22A2D01E
Show »

FASTA44548,342

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POLYMORPHISM, 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-44.
Tissue: Artery smooth muscle, Brain cortex and Caudate nucleus.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-167 AND ASN-280.
Tissue: Colon.
[8]"Missense mutations that result in serological JKnull phenotypes."
Posadas J.B., Shnyreva M., Gaur P., Nakaya S., Devanaboina M., Teramura G., Haile A., Gaur L.K.
Submitted (AUG-2009) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-381, VARIANT ASN-280.
[9]"Erythroid urea transporter deficiency due to novel JKnull alleles."
Wester E.S., Johnson S.T., Copeland T., Malde R., Lee E., Storry J.R., Olsson M.L.
Transfusion 48:365-372(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 52-113; 222-257 AND 317-332, VARIANT JK(NULL) MET-319.
[10]"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] [Europe PMC] [Abstract]
Cited for: VARIANT JK(NULL) PRO-291.
[11]"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] [Europe PMC] [Abstract]
Cited for: VARIANT JK(NULL) PRO-291.
[12]"Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene."
Liu H.M., Lin J.S., Chen P.S., Lyou J.Y., Chen Y.J., Tzeng C.H.
Transfusion 49:259-264(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JK(NULL) LYS-74; VAL-167 AND GLU-299.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GeneReviews
SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L36121 mRNA. No translation available.
U35735 mRNA. Translation: AAB00181.1.
Y19039 mRNA. Translation: CAB60834.1.
AK091064 mRNA. Translation: BAG52274.1.
AK123681 mRNA. Translation: BAG53935.1.
AK289608 mRNA. Translation: BAF82297.1.
AY942197 Genomic DNA. Translation: AAX20112.1.
BC050539 mRNA. Translation: AAH50539.1.
GQ502682 mRNA. Translation: ACV91713.1.
EF571316 Genomic DNA. No translation available.
EF571317 Genomic DNA. No translation available.
EF571318 Genomic DNA. No translation available.
PIRA55662.
RefSeqNP_001122060.3. NM_001128588.3.
NP_001139508.2. NM_001146036.2.
NP_001139509.1. NM_001146037.1.
NP_056949.4. NM_015865.6.
UniGeneHs.101307.

3D structure databases

ProteinModelPortalQ13336.
SMRQ13336. Positions 36-381.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-60049N.
STRING9606.ENSP00000412309.

Protein family/group databases

TCDB1.A.28.1.5. the urea transporter (ut) family.

Polymorphism databases

DMDM4033779.

Proteomic databases

PaxDbQ13336.
PRIDEQ13336.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321925; ENSP00000318546; ENSG00000141469. [Q13336-1]
ENST00000415427; ENSP00000412309; ENSG00000141469. [Q13336-2]
ENST00000436407; ENSP00000390637; ENSG00000141469. [Q13336-2]
ENST00000586142; ENSP00000470476; ENSG00000141469. [Q13336-1]
GeneID6563.
KEGGhsa:6563.
UCSCuc002lbf.4. human. [Q13336-1]
uc002lbj.4. human. [Q13336-2]

Organism-specific databases

CTD6563.
GeneCardsGC18P043304.
HGNCHGNC:10918. SLC14A1.
HPAHPA059570.
MIM111000. phenotype.
613868. gene.
neXtProtNX_Q13336.
PharmGKBPA35810.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4413.
HOGENOMHOG000065705.
HOVERGENHBG000540.
InParanoidQ13336.
KOK08716.
OMAVGVGQIY.
OrthoDBEOG7GBFX8.
PhylomeDBQ13336.
TreeFamTF332858.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.
REACT_20679. Amine compound SLC transporters.

Gene expression databases

ArrayExpressQ13336.
BgeeQ13336.
CleanExHS_SLC14A1.
GenevestigatorQ13336.

Family and domain databases

InterProIPR004937. Urea_transporter.
[Graphical view]
PANTHERPTHR10464. PTHR10464. 1 hit.
PfamPF03253. UT. 1 hit.
[Graphical view]
PIRSFPIRSF016502. Urea_transporter. 1 hit.
ProtoNetSearch...

Other

GeneWikiSLC14A1.
GenomeRNAi6563.
NextBio25535.
PROQ13336.
SOURCESearch...

Entry information

Entry nameUT1_HUMAN
AccessionPrimary (citable) accession number: Q13336
Secondary accession number(s): A8K0P3 expand/collapse secondary AC list , B3KR62, B3KVX3, C9EHF2, Q86VM5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 15, 1998
Last modified: March 19, 2014
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries