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Protein

Urea transporter 1

Gene

SLC14A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sitei339Important for channel permeabilityBy similarity1

GO - Molecular functioni

GO - Biological processi

  • transmembrane transport Source: Reactome
  • urea transmembrane transport Source: UniProtKB
  • urea transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Blood group antigen

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141469-MONOMER.
ReactomeiR-HSA-425366. Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

Protein family/group databases

TCDBi1.A.28.1.5. the urea transporter (ut) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Urea transporter 1
Alternative name(s):
Solute carrier family 14 member 1
Urea transporter, erythrocyte
Gene namesi
Name:SLC14A1
Synonyms:HUT11, JK, RACH1, UT1, UTE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:10918. SLC14A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Intramembranei52 – 69HelicalBy similarityAdd BLAST18
Intramembranei73 – 88HelicalBy similarityAdd BLAST16
Transmembranei91 – 110HelicalBy similarityAdd BLAST20
Transmembranei115 – 137HelicalBy similarityAdd BLAST23
Transmembranei144 – 168HelicalBy similarityAdd BLAST25
Transmembranei173 – 193HelicalBy similarityAdd BLAST21
Intramembranei220 – 234HelicalBy similarityAdd BLAST15
Intramembranei239 – 250HelicalBy similarityAdd BLAST12
Transmembranei255 – 274HelicalBy similarityAdd BLAST20
Transmembranei284 – 304HelicalBy similarityAdd BLAST21
Transmembranei309 – 330HelicalBy similarityAdd BLAST22
Transmembranei333 – 353HelicalBy similarityAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6563.
MIMi111000. phenotype.
OpenTargetsiENSG00000141469.
PharmGKBiPA35810.

Chemistry databases

ChEMBLiCHEMBL2390814.
DrugBankiDB03904. Urea.
GuidetoPHARMACOLOGYi982.

Polymorphism and mutation databases

BioMutaiSLC14A1.
DMDMi4033779.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000657371 – 389Urea transporter 1Add BLAST389

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi211N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ13336.
PeptideAtlasiQ13336.
PRIDEiQ13336.

PTM databases

iPTMnetiQ13336.
PhosphoSitePlusiQ13336.
SwissPalmiQ13336.

Expressioni

Tissue specificityi

Detected in erythrocytes (at protein level). Erythrocytes.1 Publication

Gene expression databases

BgeeiENSG00000141469.
CleanExiHS_SLC14A1.
ExpressionAtlasiQ13336. baseline and differential.
GenevisibleiQ13336. HS.

Organism-specific databases

HPAiHPA058353.
HPA059570.

Interactioni

Subunit structurei

Homotrimer; each subunit contains a pore through which urea permeates. Identified in a complex with STOM (By similarity).By similarity

Protein-protein interaction databases

DIPiDIP-60049N.
STRINGi9606.ENSP00000390637.

Chemistry databases

BindingDBiQ13336.

Structurei

3D structure databases

ProteinModelPortaliQ13336.
SMRiQ13336.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the urea transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEWG. Eukaryota.
COG4413. LUCA.
GeneTreeiENSGT00390000018729.
HOGENOMiHOG000065705.
HOVERGENiHBG000540.
InParanoidiQ13336.
KOiK08716.
OMAiMGGMFMA.
OrthoDBiEOG091G095L.
PhylomeDBiQ13336.
TreeFamiTF332858.

Family and domain databases

Gene3Di1.10.3430.10. 1 hit.
InterProiIPR029020. Ammonium/urea_transptr.
IPR004937. Urea_transporter.
[Graphical view]
PANTHERiPTHR10464. PTHR10464. 1 hit.
PfamiPF03253. UT. 1 hit.
[Graphical view]
PIRSFiPIRSF016502. Urea_transporter. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13336-1) [UniParc]FASTAAdd to basket

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.

« Hide

        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
Length:389
Mass (Da):42,528
Last modified:December 15, 1998 - v2
Checksum:i08625B8B66C310F2
GO
Isoform 2 (identifier: Q13336-2) [UniParc]FASTAAdd to basket

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

Show »
Length:445
Mass (Da):48,342
Checksum:iCDCB118E22A2D01E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti49L → M in BAF82297 (PubMed:14702039).Curated1
Sequence conflicti64R → Q in ACV91713 (Ref. 8) Curated1
Sequence conflicti231G → GVG (PubMed:7989337).Curated1

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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02231944E → K.3 PublicationsCorresponds to variant rs2298720dbSNPEnsembl.1
Natural variantiVAR_06546674N → K in Jk(null). 1 PublicationCorresponds to variant rs749037771dbSNPEnsembl.1
Natural variantiVAR_051483167M → V in Jk(null). 2 PublicationsCorresponds to variant rs2298719dbSNPEnsembl.1
Natural variantiVAR_051484171W → R.Corresponds to variant rs9948825dbSNPEnsembl.1
Natural variantiVAR_005669280D → N in Jk(b). 4 PublicationsCorresponds to variant rs1058396dbSNPEnsembl.1
Natural variantiVAR_013752291S → P in Jk(null). 2 PublicationsCorresponds to variant rs78242949dbSNPEnsembl.1
Natural variantiVAR_065467299G → E in Jk(null). 1 PublicationCorresponds to variant rs538368217dbSNPEnsembl.1
Natural variantiVAR_065468319T → M in Jk(null). 1 PublicationCorresponds to variant rs565898944dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0415731M → MNGRSLIGGAGDARHGPVWK DPFGTKAGDAARRGIARLSL ALADGSQEQEPEEEIAM in isoform 2. 1 Publication1

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.
CCDSiCCDS11925.1. [Q13336-1]
CCDS45860.1. [Q13336-2]
PIRiA55662.
RefSeqiNP_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]
UniGeneiHs.101307.

Genome annotation databases

EnsembliENST00000321925; ENSP00000318546; ENSG00000141469. [Q13336-1]
ENST00000415427; ENSP00000412309; ENSG00000141469. [Q13336-2]
ENST00000436407; ENSP00000390637; ENSG00000141469. [Q13336-2]
ENST00000586142; ENSP00000470476; ENSG00000141469. [Q13336-1]
GeneIDi6563.
KEGGihsa:6563.
UCSCiuc002lbf.4. human. [Q13336-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS11925.1. [Q13336-1]
CCDS45860.1. [Q13336-2]
PIRiA55662.
RefSeqiNP_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]
UniGeneiHs.101307.

3D structure databases

ProteinModelPortaliQ13336.
SMRiQ13336.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-60049N.
STRINGi9606.ENSP00000390637.

Chemistry databases

BindingDBiQ13336.
ChEMBLiCHEMBL2390814.
DrugBankiDB03904. Urea.
GuidetoPHARMACOLOGYi982.

Protein family/group databases

TCDBi1.A.28.1.5. the urea transporter (ut) family.

PTM databases

iPTMnetiQ13336.
PhosphoSitePlusiQ13336.
SwissPalmiQ13336.

Polymorphism and mutation databases

BioMutaiSLC14A1.
DMDMi4033779.

Proteomic databases

PaxDbiQ13336.
PeptideAtlasiQ13336.
PRIDEiQ13336.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321925; ENSP00000318546; ENSG00000141469. [Q13336-1]
ENST00000415427; ENSP00000412309; ENSG00000141469. [Q13336-2]
ENST00000436407; ENSP00000390637; ENSG00000141469. [Q13336-2]
ENST00000586142; ENSP00000470476; ENSG00000141469. [Q13336-1]
GeneIDi6563.
KEGGihsa:6563.
UCSCiuc002lbf.4. human. [Q13336-1]

Organism-specific databases

CTDi6563.
DisGeNETi6563.
GeneCardsiSLC14A1.
HGNCiHGNC:10918. SLC14A1.
HPAiHPA058353.
HPA059570.
MIMi111000. phenotype.
613868. gene.
neXtProtiNX_Q13336.
OpenTargetsiENSG00000141469.
PharmGKBiPA35810.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEWG. Eukaryota.
COG4413. LUCA.
GeneTreeiENSGT00390000018729.
HOGENOMiHOG000065705.
HOVERGENiHBG000540.
InParanoidiQ13336.
KOiK08716.
OMAiMGGMFMA.
OrthoDBiEOG091G095L.
PhylomeDBiQ13336.
TreeFamiTF332858.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000141469-MONOMER.
ReactomeiR-HSA-425366. Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

Miscellaneous databases

GeneWikiiSLC14A1.
GenomeRNAii6563.
PROiQ13336.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141469.
CleanExiHS_SLC14A1.
ExpressionAtlasiQ13336. baseline and differential.
GenevisibleiQ13336. HS.

Family and domain databases

Gene3Di1.10.3430.10. 1 hit.
InterProiIPR029020. Ammonium/urea_transptr.
IPR004937. Urea_transporter.
[Graphical view]
PANTHERiPTHR10464. PTHR10464. 1 hit.
PfamiPF03253. UT. 1 hit.
[Graphical view]
PIRSFiPIRSF016502. Urea_transporter. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiUT1_HUMAN
AccessioniPrimary (citable) accession number: Q13336
Secondary accession number(s): A8K0P3
, B3KR62, B3KVX3, C9EHF2, Q86VM5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 15, 1998
Last modified: November 2, 2016
This is version 149 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.