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UniProtKB - Q13336 (UT1_HUMAN)

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Protein

Urea transporter 1

Gene

SLC14A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • transmembrane transport Source: Reactome
  • urea transmembrane transport Source: UniProtKB
  • urea transport Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionBlood group antigen
Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-425366 Transport of 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141469.16
HGNCiHGNC:10918 SLC14A1
MIMi613868 gene
neXtProtiNX_Q13336

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6563
MalaCardsiSLC14A1
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...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ13336
PeptideAtlasiQ13336
PRIDEiQ13336
ProteomicsDBi59327
59328 [Q13336-2]

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

BioGridi112451, 4 interactors
DIPiDIP-60049N
IntActiQ13336, 3 interactors
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
OMAiVGQIYGC
OrthoDBiEOG091G095L
PhylomeDBiQ13336
TreeFamiTF332858

Family and domain databases

Gene3Di1.10.3430.10, 1 hit
InterProiView protein in InterPro
IPR029020 Ammonium/urea_transptr
IPR004937 Urea_transporter
PANTHERiPTHR10464 PTHR10464, 1 hit
PfamiView protein in Pfam
PF03253 UT, 1 hit
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 → K3 PublicationsCorresponds to variant dbSNP:rs2298720Ensembl.1
Natural variantiVAR_06546674N → K in Jk(null). 1 PublicationCorresponds to variant dbSNP:rs749037771Ensembl.1
Natural variantiVAR_051483167M → V in Jk(null). 2 PublicationsCorresponds to variant dbSNP:rs2298719Ensembl.1
Natural variantiVAR_051484171W → R. Corresponds to variant dbSNP:rs9948825Ensembl.1
Natural variantiVAR_005669280D → N in Jk(b). 4 PublicationsCorresponds to variant dbSNP:rs1058396EnsemblClinVar.1
Natural variantiVAR_013752291S → P in Jk(null). 2 PublicationsCorresponds to variant dbSNP:rs78242949EnsemblClinVar.1
Natural variantiVAR_065467299G → E in Jk(null). 1 PublicationCorresponds to variant dbSNP:rs538368217Ensembl.1
Natural variantiVAR_065468319T → M in Jk(null). 1 PublicationCorresponds to variant dbSNP:rs565898944Ensembl.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]
ENST00000586951; ENSP00000465702; ENSG00000141469 [Q13336-1]
GeneIDi6563
KEGGihsa:6563
UCSCiuc002lbf.4 human [Q13336-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiUT1_HUMAN
AccessioniPrimary (citable) accession number: Q13336
Secondary accession number(s): A8K0P3
, B3KR62, B3KVX3, C9EHF2, Q86VM5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 15, 1998
Last modified: July 18, 2018
This is version 159 of the entry and version 2 of the sequence. See 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

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