UniProtKB - Q13336 (UT1_HUMAN)
Protein
Urea transporter 1
Gene
SLC14A1
Organism
Homo sapiens (Human)
Status
Functioni
Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across erythrocyte membranes. May also play a role in transmembrane water transport, possibly by indirect means.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 339 | Important for channel permeabilityBy similarity | 1 |
GO - Molecular functioni
- urea channel activity Source: UniProtKB
- water transmembrane transporter activity Source: Ensembl
GO - Biological processi
- transmembrane transport Source: Reactome
- urea transmembrane transport Source: UniProtKB
- urea transport Source: GO_Central
Keywordsi
Molecular function | Blood group antigen |
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | Q13336 |
Reactomei | R-HSA-425366, Transport of bile salts and organic acids, metal ions and amine compounds |
Protein family/group databases
TCDBi | 1.A.28.1.5, the urea transporter (ut) family |
Names & Taxonomyi
Protein namesi | Recommended name: Urea transporter 1Alternative name(s): Solute carrier family 14 member 1 Urea transporter, erythrocyte |
Gene namesi | Name:SLC14A1 Synonyms:HUT11, JK, RACH1, UT1, UTE |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000141469.16 |
HGNCi | HGNC:10918, SLC14A1 |
MIMi | 613868, gene |
neXtProti | NX_Q13336 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
- Basolateral cell membrane By similarity; Multi-pass membrane protein By similarity
Note: Restricted to the basolateral membrane in various portions of the urothelium.By similarity
Plasma Membrane
- basolateral plasma membrane Source: UniProtKB-SubCell
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Intramembranei | 52 – 69 | HelicalBy similarityAdd BLAST | 18 | |
Intramembranei | 73 – 88 | HelicalBy similarityAdd BLAST | 16 | |
Transmembranei | 91 – 110 | HelicalBy similarityAdd BLAST | 20 | |
Transmembranei | 115 – 137 | HelicalBy similarityAdd BLAST | 23 | |
Transmembranei | 144 – 168 | HelicalBy similarityAdd BLAST | 25 | |
Transmembranei | 173 – 193 | HelicalBy similarityAdd BLAST | 21 | |
Intramembranei | 220 – 234 | HelicalBy similarityAdd BLAST | 15 | |
Intramembranei | 239 – 250 | HelicalBy similarityAdd BLAST | 12 | |
Transmembranei | 255 – 274 | HelicalBy similarityAdd BLAST | 20 | |
Transmembranei | 284 – 304 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 309 – 330 | HelicalBy similarityAdd BLAST | 22 | |
Transmembranei | 333 – 353 | HelicalBy similarityAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 6563 |
MalaCardsi | SLC14A1 |
MIMi | 111000, phenotype |
OpenTargetsi | ENSG00000141469 |
PharmGKBi | PA35810 |
Miscellaneous databases
Pharosi | Q13336, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2390814 |
DrugBanki | DB03904, Urea |
GuidetoPHARMACOLOGYi | 982 |
Polymorphism and mutation databases
BioMutai | SLC14A1 |
DMDMi | 4033779 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000065737 | 1 – 389 | Urea transporter 1Add BLAST | 389 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 211 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q13336 |
MassIVEi | Q13336 |
PaxDbi | Q13336 |
PeptideAtlasi | Q13336 |
PRIDEi | Q13336 |
ProteomicsDBi | 59327 [Q13336-1] 59328 [Q13336-2] |
PTM databases
GlyGeni | Q13336, 1 site |
iPTMneti | Q13336 |
PhosphoSitePlusi | Q13336 |
SwissPalmi | Q13336 |
Expressioni
Tissue specificityi
Detected in erythrocytes (at protein level). Erythrocytes.1 Publication
Gene expression databases
Bgeei | ENSG00000141469, Expressed in tibia and 182 other tissues |
ExpressionAtlasi | Q13336, baseline and differential |
Genevisiblei | Q13336, HS |
Organism-specific databases
HPAi | ENSG00000141469, Group enriched (brain, prostate, urinary bladder) |
Interactioni
Subunit structurei
Homotrimer; each subunit contains a pore through which urea permeates.
Identified in a complex with STOM (By similarity).
By similarityBinary interactionsi
Hide detailsIsoform 2 [Q13336-2]
Protein-protein interaction databases
BioGRIDi | 112451, 15 interactors |
DIPi | DIP-60049N |
IntActi | Q13336, 12 interactors |
STRINGi | 9606.ENSP00000390637 |
Chemistry databases
BindingDBi | Q13336 |
Miscellaneous databases
RNActi | Q13336, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q13336 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the urea transporter family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S2GD, Eukaryota |
GeneTreei | ENSGT00390000018729 |
InParanoidi | Q13336 |
OMAi | CPDWATA |
OrthoDBi | 1478665at2759 |
PhylomeDBi | Q13336 |
TreeFami | TF332858 |
Family and domain databases
Gene3Di | 1.10.3430.10, 1 hit |
InterProi | View protein in InterPro IPR029020, Ammonium/urea_transptr IPR004937, Urea_transporter |
PANTHERi | PTHR10464, PTHR10464, 1 hit |
Pfami | View protein in Pfam PF03253, UT, 1 hit |
PIRSFi | PIRSF016502, Urea_transporter, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q13336-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK
60 70 80 90 100
DKPVVLQFID WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT
110 120 130 140 150
VVSTLMALLL SQDRSLIASG LYGYNATLVG VLMAVFSDKG DYFWWLLLPV
160 170 180 190 200
CAMSMTCPIF SSALNSMLSK WDLPVFTLPF NMALSMYLSA TGHYNPFFPA
210 220 230 240 250
KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW TGGIFLGAIL
260 270 280 290 300
LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
310 320 330 340 350
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL
360 370 380
IMTTKNSNIY KMPLSKVTYP EENRIFYLQA KKRMVESPL
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB4DFJ8 | B4DFJ8_HUMAN | Urea transporter | SLC14A1 | 284 | Annotation score: | ||
F5GWS2 | F5GWS2_HUMAN | Urea transporter 1 | SLC14A1 | 257 | Annotation score: | ||
K7EQM7 | K7EQM7_HUMAN | Urea transporter 1 | SLC14A1 | 214 | Annotation score: | ||
K7EJF6 | K7EJF6_HUMAN | Urea transporter 1 | SLC14A1 | 173 | Annotation score: | ||
M0QYS8 | M0QYS8_HUMAN | Urea transporter 1 | SLC14A1 | 136 | Annotation score: | ||
E9NSU1 | E9NSU1_HUMAN | Truncated urea transporter | SLC14A1 | 302 | Annotation score: | ||
K7EJ54 | K7EJ54_HUMAN | Urea transporter 1 | SLC14A1 | 28 | Annotation score: | ||
K7ESL3 | K7ESL3_HUMAN | Urea transporter 1 | SLC14A1 | 117 | Annotation score: | ||
F6WB45 | F6WB45_HUMAN | Urea transporter 1 | SLC14A1 | 150 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 49 | L → M in BAF82297 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 64 | R → Q in ACV91713 (Ref. 8) Curated | 1 | |
Sequence conflicti | 231 | G → GVG (PubMed:7989337).Curated | 1 |
Polymorphismi
SLC14A1 is responsible for the Kidd blood group system (JK) [MIMi: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.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022319 | 44 | E → K3 PublicationsCorresponds to variant dbSNP:rs2298720Ensembl. | 1 | |
Natural variantiVAR_065466 | 74 | N → K in Jk(null). 1 PublicationCorresponds to variant dbSNP:rs749037771Ensembl. | 1 | |
Natural variantiVAR_051483 | 167 | M → V in Jk(null). 2 PublicationsCorresponds to variant dbSNP:rs2298719Ensembl. | 1 | |
Natural variantiVAR_051484 | 171 | W → R. Corresponds to variant dbSNP:rs9948825EnsemblClinVar. | 1 | |
Natural variantiVAR_005669 | 280 | D → N in Jk(b). 4 PublicationsCorresponds to variant dbSNP:rs1058396EnsemblClinVar. | 1 | |
Natural variantiVAR_013752 | 291 | S → P in Jk(null). 2 PublicationsCorresponds to variant dbSNP:rs78242949EnsemblClinVar. | 1 | |
Natural variantiVAR_065467 | 299 | G → E in Jk(null). 1 PublicationCorresponds to variant dbSNP:rs538368217Ensembl. | 1 | |
Natural variantiVAR_065468 | 319 | T → M in Jk(null). 1 PublicationCorresponds to variant dbSNP:rs565898944Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041573 | 1 | M → MNGRSLIGGAGDARHGPVWK DPFGTKAGDAARRGIARLSL ALADGSQEQEPEEEIAM in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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. |
CCDSi | CCDS11925.1 [Q13336-1] CCDS45860.1 [Q13336-2] |
PIRi | A55662 |
RefSeqi | NP_001122060.3, NM_001128588.3 [Q13336-2] NP_001139508.2, NM_001146036.2 [Q13336-1] NP_001139509.1, NM_001146037.1 [Q13336-2] NP_056949.4, NM_015865.6 [Q13336-1] |
Genome annotation databases
Ensembli | ENST00000321925; ENSP00000318546; ENSG00000141469 [Q13336-1] ENST00000415427; ENSP00000412309; ENSG00000141469 [Q13336-2] ENST00000436407; ENSP00000390637; ENSG00000141469 [Q13336-2] ENST00000586142; ENSP00000470476; ENSG00000141469 [Q13336-1] ENST00000586951; ENSP00000465702; ENSG00000141469 [Q13336-1] |
GeneIDi | 6563 |
KEGGi | hsa:6563 |
UCSCi | uc002lbf.4, human [Q13336-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
dbRBC/BGMUT Blood group antigen gene mutation database |
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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. |
CCDSi | CCDS11925.1 [Q13336-1] CCDS45860.1 [Q13336-2] |
PIRi | A55662 |
RefSeqi | NP_001122060.3, NM_001128588.3 [Q13336-2] NP_001139508.2, NM_001146036.2 [Q13336-1] NP_001139509.1, NM_001146037.1 [Q13336-2] NP_056949.4, NM_015865.6 [Q13336-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6QD5 | X-ray | 2.40 | A | 31-389 | [»] | |
SMRi | Q13336 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112451, 15 interactors |
DIPi | DIP-60049N |
IntActi | Q13336, 12 interactors |
STRINGi | 9606.ENSP00000390637 |
Chemistry databases
BindingDBi | Q13336 |
ChEMBLi | CHEMBL2390814 |
DrugBanki | DB03904, Urea |
GuidetoPHARMACOLOGYi | 982 |
Protein family/group databases
TCDBi | 1.A.28.1.5, the urea transporter (ut) family |
PTM databases
GlyGeni | Q13336, 1 site |
iPTMneti | Q13336 |
PhosphoSitePlusi | Q13336 |
SwissPalmi | Q13336 |
Polymorphism and mutation databases
BioMutai | SLC14A1 |
DMDMi | 4033779 |
Proteomic databases
jPOSTi | Q13336 |
MassIVEi | Q13336 |
PaxDbi | Q13336 |
PeptideAtlasi | Q13336 |
PRIDEi | Q13336 |
ProteomicsDBi | 59327 [Q13336-1] 59328 [Q13336-2] |
Protocols and materials databases
Antibodypediai | 22414, 149 antibodies |
Genome annotation databases
Ensembli | ENST00000321925; ENSP00000318546; ENSG00000141469 [Q13336-1] ENST00000415427; ENSP00000412309; ENSG00000141469 [Q13336-2] ENST00000436407; ENSP00000390637; ENSG00000141469 [Q13336-2] ENST00000586142; ENSP00000470476; ENSG00000141469 [Q13336-1] ENST00000586951; ENSP00000465702; ENSG00000141469 [Q13336-1] |
GeneIDi | 6563 |
KEGGi | hsa:6563 |
UCSCi | uc002lbf.4, human [Q13336-1] |
Organism-specific databases
CTDi | 6563 |
DisGeNETi | 6563 |
EuPathDBi | HostDB:ENSG00000141469.16 |
GeneCardsi | SLC14A1 |
HGNCi | HGNC:10918, SLC14A1 |
HPAi | ENSG00000141469, Group enriched (brain, prostate, urinary bladder) |
MalaCardsi | SLC14A1 |
MIMi | 111000, phenotype 613868, gene |
neXtProti | NX_Q13336 |
OpenTargetsi | ENSG00000141469 |
PharmGKBi | PA35810 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S2GD, Eukaryota |
GeneTreei | ENSGT00390000018729 |
InParanoidi | Q13336 |
OMAi | CPDWATA |
OrthoDBi | 1478665at2759 |
PhylomeDBi | Q13336 |
TreeFami | TF332858 |
Enzyme and pathway databases
PathwayCommonsi | Q13336 |
Reactomei | R-HSA-425366, Transport of bile salts and organic acids, metal ions and amine compounds |
Miscellaneous databases
BioGRID-ORCSi | 6563, 1 hit in 834 CRISPR screens |
ChiTaRSi | SLC14A1, human |
GeneWikii | SLC14A1 |
GenomeRNAii | 6563 |
Pharosi | Q13336, Tchem |
PROi | PR:Q13336 |
RNActi | Q13336, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141469, Expressed in tibia and 182 other tissues |
ExpressionAtlasi | Q13336, baseline and differential |
Genevisiblei | Q13336, HS |
Family and domain databases
Gene3Di | 1.10.3430.10, 1 hit |
InterProi | View protein in InterPro IPR029020, Ammonium/urea_transptr IPR004937, Urea_transporter |
PANTHERi | PTHR10464, PTHR10464, 1 hit |
Pfami | View protein in Pfam PF03253, UT, 1 hit |
PIRSFi | PIRSF016502, Urea_transporter, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | UT1_HUMAN | |
Accessioni | Q13336Primary (citable) accession number: Q13336 Secondary accession number(s): A8K0P3 Q86VM5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | December 15, 1998 | |
Last modified: | December 2, 2020 | |
This is version 177 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - 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 - Blood group antigen proteins
Nomenclature of blood group antigens and list of entries