Details of Protein

General Information of Protein (ID: PRT01153)
Name Solute carrier family 29 member 4 (SLC29A4)
Synonyms   Click to Show/Hide Synonyms of This Protein
hENT4; Plasma membrane monoamine transporter; Solute carrier family 29 member 4; PSEC0113; SLC29A4; ENT4; PMAT
Gene Name SLC29A4 Gene ID
222962
UniProt ID
Q7RTT9
Family Equilibrative nucleoside transporter (ENT)
TC Number   TC: 2.A.57.1.5  (Click to Show/Hide the Complete TC Tree)
The Equilibrative Nucleoside Transporter (ENT) Family
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TC: 2.A.57.1.5
  Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Function) of This Protein
Sequence
MGSVGSQRLEEPSVAGTPDPGVVMSFTFDSHQLEEAAEAAQGQGLRARGVPAFTDTTLDE
PVPDDRYHAIYFAMLLAGVGFLLPYNSFITDVDYLHHKYPGTSIVFDMSLTYILVALAAV
LLNNVLVERLTLHTRITAGYLLALGPLLFISICDVWLQLFSRDQAYAINLAAVGTVAFGC
TVQQSSFYGYTGMLPKRYTQGVMTGESTAGVMISLSRILTKLLLPDERASTLIFFLVSVA
LELLCFLLHLLVRRSRFVLFYTTRPRDSHRGRPGLGRGYGYRVHHDVVAGDVHFEHPAPA
LAPNESPKDSPAHEVTGSGGAYMRFDVPRPRVQRSWPTFRALLLHRYVVARVIWADMLSI
AVTYFITLCLFPGLESEIRHCILGEWLPILIMAVFNLSDFVGKILAALPVDWRGTHLLAC
SCLRVVFIPLFILCVYPSGMPALRHPAWPCIFSLLMGISNGYFGSVPMILAAGKVSPKQR
ELAGNTMTVSYMSGLTLGSAVAYCTYSLTRDAHGSCLHASTANGSILAGL
Function Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia.
Regulatory Network
Full List of Metabolite(s) Regulated by This Protein
      Benzenoids
            Dopamine Click to Show/Hide the Full List of Regulating Pair(s):   2 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair (1) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (138T) of SLC29A4
                      Induced Change Dopamine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Asperger syndrome [ICD-11: 6A02]
                      Details It is reported that mutation (138T) of SLC29A4 leads to the decrease of dopamine levels compared with control group.
               Regulating Pair (2) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (D326E) of SLC29A4
                      Induced Change Dopamine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Asperger syndrome [ICD-11: 6A02]
                      Details It is reported that mutation (D326E) of SLC29A4 leads to the decrease of dopamine levels compared with control group.
      Organoheterocyclic compounds
            Thiamine Click to Show/Hide the Full List of Regulating Pair(s):   2 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair (1) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (138T) of SLC29A4
                      Induced Change Thiamine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Asperger syndrome [ICD-11: 6A02]
                      Details It is reported that mutation (138T) of SLC29A4 leads to the decrease of thiamine levels compared with control group.
               Regulating Pair (2) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (D326E) of SLC29A4
                      Induced Change Thiamine concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Asperger syndrome [ICD-11: 6A02]
                      Details It is reported that mutation (D326E) of SLC29A4 leads to the decrease of thiamine levels compared with control group.
References
1 Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. Mol Autism. 2014 Aug 13;5:43.

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