SLC6:
The sodium- and chloride- dependent neurotransmitter transporter
family
|
|
Human gene name
|
Protein name
|
Aliases
|
Predominant substrates
|
Transport type/Coupling ions
|
Predominant tissue distribution
|
Link to disease
|
Human gene locus
|
Sequence Accession ID
|
Splice variants and their specific features
|
|
SLC6A1
|
GAT1
|
|
GABA
|
C/Na+,Cl-
|
GABAergic neurons in central and peripheral nervous system,
some non-neural tissues
|
epilepsy, schizophrenia
|
3p25-p24
|
NM_003042
|
|
|
SLC6A2
|
NET
|
NAT1
NET1
|
norepinephrine,
dopamine
|
C/Na+,Cl-
|
central and peripheral nervous system, adrenal gland, placenta
|
depression, orthostatic intolerance,
anorexia nervosa, cardiovascular diseases
|
16q12.2
|
NM_001043
|
Variants having
differences in distal residues within the C-terminus:
lack surface expression; Variant missing exon 5: no transport,
cocaine, or nisoxetine binding
|
|
SLC6A3
|
DAT
|
DAT1
|
dopamine
|
C/Na+,Cl-
|
brain (dopaminergic neurons)
|
parkinsonism, Tourette syndrome, substance abuse, ADHD
|
5p15.2-15.3
|
NM_001044
|
Variant in gut lacking 44 amino acids in TM2 and IL2: less
active in DA transport
|
|
SLC6A4
|
SERT
|
5-HTT
|
serotonin
|
C/Na+,Cl-,K+
|
central and peripheral nervous system, epithelial cells,
platelets
|
anxiety, depression, autism, substance abuse, gastrointestinal
disorders
|
17q11.1-q12
|
NM_001045
|
Exon 1A and alternative 1B joined in 5’ noncoding region:
found in JAR cells and human raphe
|
|
SLC6A5
|
GLYT2
|
NET1
|
glycine
|
C/Na+,Cl-
|
spinal cord, brain (glycinergic neurons)
|
|
11p15.1-15.2
|
NM_004211
|
Two N-terminal variants, one that is non-functional; several
polymorphisms
|
|
SLC6A6
|
TAUT
|
|
taurine
|
C/Na+,Cl-
|
brain, retina, liver, kidney, heart, spleen, pancreas
|
taurine deficiency diseases, retinal blindness, abnormal
renal development
|
3p26-p24
|
NM_003043
|
|
|
SLC6A6P
|
|
|
|
|
|
|
21pter-qter
|
|
pseudogene
|
|
SLC6A7
|
PROT
|
|
L-proline
|
C/Na+,Cl-
|
brain (glutamatergic neurons)
|
|
5q31-q32
|
NM_014228
|
|
|
SLC6A8
|
CT1
|
CRTR
|
creatine
|
C/Na+,Cl-
|
ubiquitous
|
X-linked creatine deficiency syndrome, mental retardation,
musculo-skeletal disorders, cardio-myopathy
|
Xq28
|
NM_005629
|
|
|
SLC6A9
|
GLYT1
|
|
glycine
|
C/Na+,Cl-
|
GLYT1a: brain, pancreas, uterus, stomach, spleen, liver,
and lung. GLYT1b, GLYT
1c: nervous system. GLYT1e, GLYT1f, retina.
|
|
1p33
|
NM_006934
|
Five variants: three in the N-terminus, two in the C-terminus
|
|
SLC6A10
|
CT2
|
|
creatine
|
|
testis
|
|
16p11.2
|
U41163
|
|
|
SLC6A11
|
GAT3
|
|
GABA
|
C/Na+,Cl-
|
brain (GABAergic neurons, glia)
|
epilepsy
|
3p25.3
|
NM_014229
|
|
|
SLC6A12
|
BGT1
|
|
betaine, GABA
|
C/Na+,Cl-
|
kidney, brain
|
|
12p13
|
NM_003044
|
|
|
SLC6A13
|
GAT2
|
|
GABA
|
C/Na+,Cl-
|
brain (meninges, ependyma, choroid plexus), retina, liver
and kidney
|
|
12p13.3
|
NM_016615
|
|
|
SLC6A14
|
ATB(0+)
|
|
neutral, cationic amino acids
|
C/Na+,Cl-
|
lung, trachea, salivary gland, mammary gland, stomach,
pituitary.
|
|
Xq23-q24
|
NM_007231
|
|
|
SLC6A15
|
SBAT1
|
B0AT2,
v7-3, NTT7-3
|
large neutral amino acids
|
C/Na+
|
brain (amygdala, putamen, corpus callosum)
|
|
12q21.3-q21.4
|
NM_018057
|
|
| SLC6A16 |
NTT5 |
|
unknown |
|
testis, pancreas, prostate |
|
19q13.1 -q13.4 |
NM_014037 |
orphan |
| SLC6A17 |
NTT4 |
|
|
|
|
|
1p13.3 |
NM_001010898 |
|
| SLC6A18 |
Xtrp2 |
FLJ31236 |
|
|
kidney, apical membrane |
|
5p15.33 |
NM_182632 |
|
| SLC6A19 |
B0AT1 |
HND |
neutral amino acids |
C/Na+ |
intestine and renal proximal tubule. apical membrane |
Hartnup disorder |
5p15.33 |
NM_001003841 |
|
|
SLC6A20
|
SIT1
|
XT3, Xtrp3
|
imino acids (proline, pipecolate, sarcosine)
|
C/Na+
|
intestine, kidney proximal tubule, choroid plexus,
microglia, meninges of the brain, ovary
|
|
3p21.6
|
NM_020208
|
|
|
