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Aliases for SLC14A1 Gene

Aliases for SLC14A1 Gene

  • Solute Carrier Family 14 (Urea Transporter), Member 1 (Kidd Blood Group) 2 3
  • UT1 3 4 6
  • UTE 3 4 6
  • JK 3 4 6
  • Urea Transporter, Erythrocyte 3 4
  • Kidd Blood Group 2 3
  • HUT11 3 4
  • RACH1 3 4
  • Solute Carrier Family 14 (Urea Transporter), Member 1 2
  • Solute Carrier Family 14 Member 1 4
  • Urea Transporter JK Glycoprotein 3
  • Urea Transporter-B1 3
  • Urea Transporter 1 3
  • SLC14A1 JK 3
  • HsT1341 3
  • RACH2 3
  • UT-B1 3

External Ids for SLC14A1 Gene

Previous HGNC Symbols for SLC14A1 Gene

  • JK

Previous GeneCards Identifiers for SLC14A1 Gene

  • GC18P043616
  • GC18P043090
  • GC18P043193
  • GC18P041556
  • GC18P041558
  • GC18P043304
  • GC18P040161

Summaries for SLC14A1 Gene

Entrez Gene Summary for SLC14A1 Gene

  • The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

GeneCards Summary for SLC14A1 Gene

SLC14A1 (Solute Carrier Family 14 (Urea Transporter), Member 1 (Kidd Blood Group)) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include water transmembrane transporter activity and urea transmembrane transporter activity. An important paralog of this gene is SLC14A2.

UniProtKB/Swiss-Prot for SLC14A1 Gene

  • 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

Gene Wiki entry for SLC14A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC14A1 Gene

Genomics for SLC14A1 Gene

Regulatory Elements for SLC14A1 Gene

Genomic Location for SLC14A1 Gene

Start:
45,723,875 bp from pter
End:
45,752,520 bp from pter
Size:
28,646 bases
Orientation:
Plus strand

Genomic View for SLC14A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC14A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC14A1 Gene

Proteins for SLC14A1 Gene

  • Protein details for SLC14A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13336-UT1_HUMAN
    Recommended name:
    Urea transporter 1
    Protein Accession:
    Q13336
    Secondary Accessions:
    • A8K0P3
    • B3KR62
    • B3KVX3
    • C9EHF2
    • Q86VM5

    Protein attributes for SLC14A1 Gene

    Size:
    389 amino acids
    Molecular mass:
    42528 Da
    Quaternary structure:
    • Homotrimer; each subunit contains a pore through which urea permeates. Identified in a complex with STOM (By similarity).

    Alternative splice isoforms for SLC14A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC14A1 Gene

Proteomics data for SLC14A1 Gene at MOPED

Post-translational modifications for SLC14A1 Gene

  • Glycosylation at Asn211
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC14A1 Gene

Domains for SLC14A1 Gene

Gene Families for SLC14A1 Gene

HGNC:
IUPHAR :

Protein Domains for SLC14A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13336

UniProtKB/Swiss-Prot:

UT1_HUMAN :
  • Q13336
Family:
  • Belongs to the urea transporter family.
genes like me logo Genes that share domains with SLC14A1: view

Function for SLC14A1 Gene

Molecular function for SLC14A1 Gene

GENATLAS Biochemistry: solute carrier family 14 (urea transport),member 1,36kDa,erythroid,same as Kidd (JK),see symbol
UniProtKB/Swiss-Prot Function: 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

Gene Ontology (GO) - Molecular Function for SLC14A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005372 water transmembrane transporter activity IEA --
GO:0015204 urea transmembrane transporter activity TAS 7797558
GO:0015265 urea channel activity IDA 19865084
genes like me logo Genes that share ontologies with SLC14A1: view
genes like me logo Genes that share phenotypes with SLC14A1: view

Animal Models for SLC14A1 Gene

MGI Knock Outs for SLC14A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC14A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC14A1 Gene

Localization for SLC14A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC14A1 Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Note=Restricted to the basolateral membrane in various portions of the urothelium. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC14A1 Gene COMPARTMENTS Subcellular localization image for SLC14A1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC14A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 19865084
GO:0016021 integral component of membrane --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC14A1: view

Pathways for SLC14A1 Gene

genes like me logo Genes that share pathways with SLC14A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for SLC14A1 Gene

Gene Ontology (GO) - Biological Process for SLC14A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006833 water transport IEA --
GO:0015840 urea transport TAS 7989337
GO:0055085 transmembrane transport TAS --
GO:0071918 urea transmembrane transport IDA 19865084
genes like me logo Genes that share ontologies with SLC14A1: view

Compounds for SLC14A1 Gene

(1) HMDB Compounds for SLC14A1 Gene

Compound Synonyms Cas Number PubMed IDs
Urea
  • Carbonyl diamine
57-13-6

(2) Novoseek inferred chemical compound relationships for SLC14A1 Gene

Compound -log(P) Hits PubMed IDs
urea 71.8 18
vas-a 67.6 4
genes like me logo Genes that share compounds with SLC14A1: view

Transcripts for SLC14A1 Gene

Unigene Clusters for SLC14A1 Gene

Solute carrier family 14 (urea transporter), member 1 (Kidd blood group):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC14A1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC14A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - -
SP4: - - - - - - - - - - - -
SP5: - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - - - -
SP11: - - - - -
SP12: - - - - - - -
SP13: - - - -
SP14:
SP15:

ExUns: 10c ^ 11 ^ 12a · 12b · 12c · 12d · 12e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for SLC14A1 Gene

GeneLoc Exon Structure for
SLC14A1
ECgene alternative splicing isoforms for
SLC14A1

Expression for SLC14A1 Gene

mRNA expression in normal human tissues for SLC14A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC14A1 Gene

This gene is overexpressed in Bladder (5.2) and Brain - Caudate (basal ganglia) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC14A1 Gene

SOURCE GeneReport for Unigene cluster for SLC14A1 Gene Hs.101307

mRNA Expression by UniProt/SwissProt for SLC14A1 Gene

Q13336-UT1_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Erythrocytes.
genes like me logo Genes that share expressions with SLC14A1: view

In Situ Assay Products

Orthologs for SLC14A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC14A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC14A1 35
  • 94.98 (n)
  • 94.38 (a)
SLC14A1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC14A1 35
  • 84.29 (n)
  • 80.99 (a)
SLC14A1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC14A1 35
  • 85.17 (n)
  • 81.26 (a)
SLC14A1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc14a1 35
  • 83.41 (n)
  • 82.05 (a)
Slc14a1 16
Slc14a1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC14A1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc14a1 35
  • 81.61 (n)
  • 80.57 (a)
lizard
(Anolis carolinensis)
Reptilia SLC14A1 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc14a2 36
  • 43 (a)
OneToMany
Species with no ortholog for SLC14A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC14A1 Gene

ENSEMBL:
Gene Tree for SLC14A1 (if available)
TreeFam:
Gene Tree for SLC14A1 (if available)

Paralogs for SLC14A1 Gene

Paralogs for SLC14A1 Gene

genes like me logo Genes that share paralogs with SLC14A1: view

Variants for SLC14A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC14A1 Gene

Q13336-UT1_HUMAN
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

Sequence variations from dbSNP and Humsavar for SLC14A1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs16809 -- 45,749,233(-) TGACC(C/T)GATGC intron-variant
rs17142 -- 45,749,345(-) TGTTT(C/T)TTTCC intron-variant
rs473429 -- 45,739,095(+) GAGTT(C/T)GTGGG intron-variant
rs474270 -- 45,748,330(+) TAAAA(A/G)TGCAT intron-variant
rs487042 -- 45,742,059(+) GGGAG(G/T)GAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC14A1 Gene

Variant ID Type Subtype PubMed ID
nsv525268 CNV Gain 19592680
nsv909586 CNV Gain 21882294
nsv909587 CNV Gain 21882294

Relevant External Links for SLC14A1 Gene

HapMap Linkage Disequilibrium report
SLC14A1
Human Gene Mutation Database (HGMD)
SLC14A1
Locus Specific Mutation Databases (LSDB)
SLC14A1
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for SLC14A1 Gene

(1) OMIM Diseases for SLC14A1 Gene (613868)

(1) Novoseek inferred disease relationships for SLC14A1 Gene

Disease -log(P) Hits PubMed IDs
hemolysis 36.1 1

Relevant External Links for SLC14A1

Genetic Association Database (GAD)
SLC14A1
Human Genome Epidemiology (HuGE) Navigator
SLC14A1
genes like me logo Genes that share disorders with SLC14A1: view

No data available for UniProtKB/Swiss-Prot for SLC14A1 Gene

Publications for SLC14A1 Gene

  1. Kidd blood group and urea transport function of human erythrocytes are carried by the same protein. (PMID: 7797558) OlivA"s B. … Bailly P. (J. Biol. Chem. 1995) 2 3 23
  2. At physiological expression levels, the Kidd blood group/urea transporter protein is not a water channel. (PMID: 10514515) Sidoux-Walter F. … Bailly P. (J. Biol. Chem. 1999) 3 4 23
  3. Genomic characterization of the Kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns. (PMID: 10644814) Irshaid N.M. … Olsson M.L. (Transfusion 2000) 3 4 23
  4. Partial deletion in the JK locus causing a Jk(null) phenotype. (PMID: 11807016) Lucien N. … Bailly P. (Blood 2002) 3 23
  5. Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families. (PMID: 11841450) Irshaid N.M. … Olsson M.L. (Br. J. Haematol. 2002) 3 23

Products for SLC14A1 Gene

Sources for SLC14A1 Gene

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