Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SLC14A1 contributors: mct/shn - updated : 05-10-2013
HGNC name solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
HGNC id 10918
Corresponding disease
JK Kidd blood group
Location 18q12.3      Physical location : 43.304.091 - 43.332.484
Synonym name
  • SLC14A1 JK
  • solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
  • urea transporter 1
  • urea transporter JK glycoprotein
  • urea transporter, erythrocyte
  • urea transporter-B1
  • Kidd blood group
    • Synonym symbol(s) RACH1, HUT11, UT1, UT-B1, UTE, HsT1341, FLJ33745, FLJ41687, RACH2
    DNA
    TYPE functioning gene
    STRUCTURE 28.37 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure The 5'-flanking region, from nucleotide -837 to -336, contains TATA and inverted CAAT boxes as well as GATA-1/SP1 erythroid-specific cis-acting regulatory elements
  • the 3'-untranslated region reveals different alternative polyadenylation signals
    • MAPPING cloned Y linked N status provisional
    Map cen - D18S454 - D18S1094 - SLC14A1 - D18S1143 - D18S1111 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 4129 - 445 - -
    11 splicing 4058 - 389 - -
    10 splicing 3971 - 389 - -
    9 splicing 4226 - 445 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney   highly Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroid Homo sapiensAdult
    cell lineage transcribed in bone marrow-derived mesenchymal stem cells (MSCs)
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 2 putative glycosylation sites and 10 cysteines
    • HOMOLOGY
    interspecies ortholog to Slc14a1, Rattus norvegicus
    ortholog to Slc14a1, Mus musculus
    ortholog to SLC14A1, Pan troglodytes
    Homologene
    FAMILY
  • solute carrier family 14 (urea)
    • CATEGORY antigen , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text apical membrane of terminal inner medullary collecting ducts
    basic FUNCTION
  • responsible for the facilitated urea transport in human red blood cells
  • mediating vasopression-regulated urea reabsorption
  • specialized low-affinity urea transporter, mediating urea transport in erythrocytes
  • potentially playing an important role in eliminating urea produced by Sertoli cells
  • important role in maintaining the symbiotic relationship between humans and their gut bacteria
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IER3IP1, PPIB, EMC7, SPINT2, C14orf1/PEBP28, TMEM147, YIPF6, and KRTCAP2 interacting with SLC41A1
    • cell & other
    REGULATION
    Other regulated by changes in dietary protein content and hydration state,independently of SLC14A2
    ASSOCIATED DISORDERS
    corresponding disease(s) JK
    related resource Blood Group Antigen Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    during chondrogenic differentiation
    Susceptibility . urinary bladder cancer susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Urea permeability is 45-fold lower in erythrocytes from UT-B knockout mice, daily urine output is 1.5-fold greater and urine osmolality is lower than from those in wild-type mice