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UniProtKB - Q13336 (UT1_HUMAN)

Entry version 169 (16 Oct 2019)
Sequence version 2 (15 Dec 1998)
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Protein

Urea transporter 1

Gene

SLC14A1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei339Important for channel permeabilityBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionBlood group antigen
Biological processTransport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.28.1.5 the urea transporter (ut) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Urea transporter 1
Alternative name(s):
Solute carrier family 14 member 1
Urea transporter, erythrocyte
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC14A1
Synonyms:HUT11, JK, RACH1, UT1, UTE
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10918 SLC14A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613868 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13336

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei52 – 69HelicalBy similarityAdd BLAST18
Intramembranei73 – 88HelicalBy similarityAdd BLAST16
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		6563

MalaCards human disease database

More...MalaCardsi		SLC14A1
MIMi111000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000141469

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35810

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13336

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2390814

Drug and drug target database

More...DrugBanki		DB03904 Urea

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		982

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC14A1

Domain mapping of disease mutations (DMDM)

More...DMDMi		4033779

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000657371 – 389Urea transporter 1Add BLAST389

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi211N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13336

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13336

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q13336

PeptideAtlas

More...PeptideAtlasi		Q13336

PRoteomics IDEntifications database

More...PRIDEi		Q13336

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59327 [Q13336-1]
59328 [Q13336-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13336

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q13336

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q13336

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141469 Expressed in 165 organ(s), highest expression level in tibia

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13336 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13336 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA058353
HPA059570

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112451, 4 interactors

Database of interacting proteins

More...DIPi		DIP-60049N

Protein interaction database and analysis system

More...IntActi		Q13336, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000390637

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q13336

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1389
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13336

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the urea transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEWG Eukaryota
COG4413 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018729

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000065705

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13336

KEGG Orthology (KO)

More...KOi		K08716

Identification of Orthologs from Complete Genome Data

More...OMAi		CPDWATA

Database of Orthologous Groups

More...OrthoDBi		1478665at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13336

TreeFam database of animal gene trees

More...TreeFami		TF332858

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.3430.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029020 Ammonium/urea_transptr
IPR004937 Urea_transporter

The PANTHER Classification System

More...PANTHERi		PTHR10464 PTHR10464, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03253 UT, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF016502 Urea_transporter, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DFJ8B4DFJ8_HUMAN
Urea transporter
SLC14A1
284Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GWS2F5GWS2_HUMAN
Urea transporter 1
SLC14A1
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EQM7K7EQM7_HUMAN
Urea transporter 1
SLC14A1
214Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9NSU1E9NSU1_HUMAN
Truncated urea transporter
SLC14A1
302Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYS8M0QYS8_HUMAN
Urea transporter 1
SLC14A1
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJF6K7EJF6_HUMAN
Urea transporter 1
SLC14A1
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ESL3K7ESL3_HUMAN
Urea transporter 1
SLC14A1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJ54K7EJ54_HUMAN
Urea transporter 1
SLC14A1
28Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6WB45F6WB45_HUMAN
Urea transporter 1
SLC14A1
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti49L → M in BAF82297 (PubMed:14702039).Curated1
Sequence conflicti64R → Q in ACV91713 (Ref. 8) Curated1
Sequence conflicti231G → GVG (PubMed:7989337).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0415731M → MNGRSLIGGAGDARHGPVWK DPFGTKAGDAARRGIARLSL ALADGSQEQEPEEEIAM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11925.1 [Q13336-1]
CCDS45860.1 [Q13336-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A55662

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6563

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6563

UCSC genome browser

More...UCSCi		uc002lbf.4 human [Q13336-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6QD5X-ray2.40A31-389[»]
SMRiQ13336
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112451, 4 interactors
DIPiDIP-60049N
IntActiQ13336, 6 interactors
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

jPOSTiQ13336
MassIVEiQ13336
PaxDbiQ13336
PeptideAtlasiQ13336
PRIDEiQ13336
ProteomicsDBi59327 [Q13336-1]
59328 [Q13336-2]

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6563
DisGeNETi6563

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC14A1
HGNCiHGNC:10918 SLC14A1
HPAiHPA058353
HPA059570
MalaCardsiSLC14A1
MIMi111000 phenotype
613868 gene
neXtProtiNX_Q13336
OpenTargetsiENSG00000141469
PharmGKBiPA35810

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEWG Eukaryota
COG4413 LUCA
GeneTreeiENSGT00390000018729
HOGENOMiHOG000065705
InParanoidiQ13336
KOiK08716
OMAiCPDWATA
OrthoDBi1478665at2759
PhylomeDBiQ13336
TreeFamiTF332858

Enzyme and pathway databases

ReactomeiR-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC14A1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC14A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6563
PharosiQ13336

Protein Ontology

More...PROi		PR:Q13336

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141469 Expressed in 165 organ(s), highest expression level in tibia
ExpressionAtlasiQ13336 baseline and differential
GenevisibleiQ13336 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13336
Secondary accession number(s): A8K0P3
, B3KR62, B3KVX3, C9EHF2, Q86VM5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 15, 1998
Last modified: October 16, 2019
This is version 169 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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