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FLASH GENE
Symbol SLC6A14 contributors: mct - updated : 22-08-2012
HGNC name solute carrier family 6 (neurotransmitter transporter), member 14
HGNC id 11047
Location Xq23      Physical location : 115.567.746 - 115.592.623
Synonym name amino acid transporter B0+
Synonym symbol(s) ATB(0+), OBX, RP3-452H17.1, BMIQ11
DNA
TYPE functioning gene
STRUCTURE 24.88 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC139466 Xq23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene LOC286528 Xq24 similar to HSPC182 protein HTR2C Xq24 5-hydroxytryptamine (serotonin) receptor 2C IL13RA2 Xq24 interleukin 13 receptor, alpha 2 LOC392524 X similar to YAP1 protein KIAA1495 Xq24 KIAA1495 protein TMSL7 X thymosin-like 7 FLJ40249 Xq24 hypothetical protein FLJ40249 HOM-TES-85 Xq24 HOM-TES-85 tumor antigen PLS3 Xq24 plastin 3 (T isoform) ASSP5 Xq22-q26 argininosuccinate synthetase pseudogene 5 LOC136337 Xq24 similar to elongation factor 1 gamma LOC222019 Xq24 hypothetical gene supported by BC022340; L76416 LOC392525 X similar to Aldo-keto reductase family 1, member B1 LOC286533 Xq24 similar to apoptosis inhibitor 5; fibroblast growth factor 2-interacting factor 2; API5-like 1 AGTR2 Xq22-q23 angiotensin II receptor, type 2 SLC6A14 Xq23-q24 solute carrier family 6 (neurotransmitter transporter), member 14 LOC203413 Xq24 hypothetical LOC203413 LOC392526 X similar to Serine/threonine-protein kinase PRP4 homolog (PRP4 pre-mRNA processing factor 4 homolog) (Pre-mRNA protein kinase) LOC392527 X similar to protein phosphatase 2A inhibitor-2 I-2PP2A KIAA1309 Xq23-q24 KIAA1309 LOC392528 X similar to beta-tubulin 1 DKFZp686L20145 Xq24 similar to rab11-binding protein LOC389882 X LOC389882 DOCK11 Xq24 dedicator of cytokinesis 11 IL13RA1 Xq22-q26 interleukin 13 receptor, alpha 1 LOC170261 Xq24 hypothetical protein LOC170261 LOC159007 Xq24 similar to Aflatoxin B1 aldehyde reductase member 2 (AFB1-AR 1) (Aldoketoreductase 7) LOC392529 X hypothetical gene supported by NM_015198 RNF127 Xq24 ring finger protein 127 KIAA1210 Xq24 KIAA1210 protein LOC389883 X similar to Hnrpa1 protein PGRMC1 Xq22-q24 progesterone receptor membrane component 1 LOC139516 Xq24 similar to DNA segment on chromosome X and Y (unique) 155 expressed sequence; Pseudoautosomal gene XE7 (Y chromosome) MRPS17P9 Xq24 similar to DNA segment on chromosome X and Y (unique) 155 expressed sequence; Pseudoautosomal gene XE7 (Y chromosome) LOC203427 Xq24 similar to solute carrier family 25 , member 16
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 4564 - 642 - 2008 18599538
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx    
 salivary gland    
 stomach    
Reproductivefemale systembreastmammary gland  
Respiratoryrespiratory tracttrachea   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
HOMOLOGY
Homologene
FAMILY Na(+)- and Cl(-)-dependent neurotransmitter transporter family
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     plasma membrane
text integral membrane protein
basic FUNCTION
  • transporting both neutral and cationic amino acids in an Na(+)- and Cl(-)-dependent manner
  • may play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission
  • encodes the transport protein known as the beta-alanine carrier which, due to its broad substrate specificity, is likely to play an important role in absorption of essential nutrients and drugs in the distal regions of the human gastrointestinal tract
  • transports 18 of the 20 proteinogenic amino acids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with Protein kinase C (regulation by PKC correlated with high activity of both proteins reported for cancer cells)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    specifically in estrogen receptor (ER)-positive breast cancer
    tumoral     --over  
    in colon cancer and cervical cancer
    Susceptibility to obesity
    Variant & Polymorphism SNP SNP 22510 C>G at-risk G allele was associated, both in adult women with moderate obesity and in 234 obese girls, with higher body fat and modified perception of hunger and satiety
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    novel and effective drug target for the treatment of ER-positive breast cancer
    ANIMAL & CELL MODELS