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Protein

Sodium- and chloride-dependent betaine transporter

Gene

SLC6A12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processNeurotransmitter transport, Symport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-71288 Creatine metabolism
R-HSA-888593 Reuptake of GABA
SIGNORiP48065

Protein family/group databases

TCDBi2.A.22.3.1 the neurotransmitter:sodium symporter (nss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium- and chloride-dependent betaine transporter
Alternative name(s):
BGT-1
Na(+)/Cl(-) betaine/GABA transporter
Solute carrier family 6 member 12
Gene namesi
Name:SLC6A12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111181.12
HGNCiHGNC:11045 SLC6A12
MIMi603080 gene
neXtProtiNX_P48065

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 44CytoplasmicSequence analysisAdd BLAST44
Transmembranei45 – 65Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei73 – 92Helical; Name=2Sequence analysisAdd BLAST20
Transmembranei117 – 137Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini138 – 210ExtracellularSequence analysisAdd BLAST73
Transmembranei211 – 229Helical; Name=4Sequence analysisAdd BLAST19
Transmembranei238 – 255Helical; Name=5Sequence analysisAdd BLAST18
Transmembranei291 – 308Helical; Name=6Sequence analysisAdd BLAST18
Transmembranei320 – 341Helical; Name=7Sequence analysisAdd BLAST22
Transmembranei374 – 393Helical; Name=8Sequence analysisAdd BLAST20
Transmembranei423 – 441Helical; Name=9Sequence analysisAdd BLAST19
Transmembranei458 – 478Helical; Name=10Sequence analysisAdd BLAST21
Transmembranei499 – 518Helical; Name=11Sequence analysisAdd BLAST20
Transmembranei538 – 556Helical; Name=12Sequence analysisAdd BLAST19
Topological domaini557 – 614CytoplasmicSequence analysisAdd BLAST58

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6539
OpenTargetsiENSG00000111181
PharmGKBiPA35908

Chemistry databases

ChEMBLiCHEMBL3715
DrugBankiDB08848 Guvacine
GuidetoPHARMACOLOGYi932

Polymorphism and mutation databases

BioMutaiSLC6A12
DMDMi257050987

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002147881 – 614Sodium- and chloride-dependent betaine transporterAdd BLAST614

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi157 ↔ 166By similarity
Glycosylationi171N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP48065
PaxDbiP48065
PeptideAtlasiP48065
PRIDEiP48065
ProteomicsDBi55859

PTM databases

PhosphoSitePlusiP48065

Expressioni

Tissue specificityi

Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain.

Gene expression databases

BgeeiENSG00000111181 Expressed in 110 organ(s), highest expression level in cortex of kidney
CleanExiHS_SLC6A12
ExpressionAtlasiP48065 baseline and differential
GenevisibleiP48065 HS

Organism-specific databases

HPAiHPA034973

Interactioni

Subunit structurei

Interacts with LIN7C.By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi112430, 2 interactors
IntActiP48065, 3 interactors
MINTiP48065
STRINGi9606.ENSP00000352702

Chemistry databases

BindingDBiP48065

Structurei

3D structure databases

ProteinModelPortaliP48065
SMRiP48065
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00760000118857
HOGENOMiHOG000116406
HOVERGENiHBG071421
InParanoidiP48065
KOiK05039
OMAiNFTSPVM
OrthoDBiEOG091G08PX
PhylomeDBiP48065
TreeFamiTF343812

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002983 Na/ntran_symport_betaine
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR01198 BETTRANSPORT
PR00176 NANEUSMPORT
SUPFAMiSSF161070 SSF161070, 1 hit
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P48065-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDGKVAVQEC GPPAVSWVPE EGEKLDQEDE DQVKDRGQWT NKMEFVLSVA
60 70 80 90 100
GEIIGLGNVW RFPYLCYKNG GGAFFIPYFI FFFVCGIPVF FLEVALGQYT
110 120 130 140 150
SQGSVTAWRK ICPLFQGIGL ASVVIESYLN VYYIIILAWA LFYLFSSFTS
160 170 180 190 200
ELPWTTCNNF WNTEHCTDFL NHSGAGTVTP FENFTSPVME FWERRVLGIT
210 220 230 240 250
SGIHDLGSLR WELALCLLLA WVICYFCIWK GVKSTGKVVY FTATFPYLML
260 270 280 290 300
VILLIRGVTL PGAYQGIIYY LKPDLFRLKD PQVWMDAGTQ IFFSFAICQG
310 320 330 340 350
CLTALGSYNK YHNNCYKDCI ALCFLNSATS FVAGFVVFSI LGFMSQEQGV
360 370 380 390 400
PISEVAESGP GLAFIAFPKA VTMMPLSQLW SCLFFIMLIF LGLDSQFVCV
410 420 430 440 450
ECLVTASIDM FPRQLRKSGR RELLILTIAV MCYLIGLFLV TEGGMYIFQL
460 470 480 490 500
FDYYASSGIC LLFLSLFEVV CISWVYGADR FYDNIEDMIG YRPWPLVKIS
510 520 530 540 550
WLFLTPGLCL ATFLFSLSKY TPLKYNNVYV YPPWGYSIGW FLALSSMVCV
560 570 580 590 600
PLFVVITLLK TRGPFRKRLR QLITPDSSLP QPKQHPCLDG SAGRNFGPSP
610
TREGLIAGEK ETHL
Length:614
Mass (Da):69,368
Last modified:September 1, 2009 - v2
Checksum:iD8FE8D259CE64B62
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2T6F5H2T6_HUMAN
Transporter
SLC6A12
146Annotation score:
F5H4L6F5H4L6_HUMAN
Sodium- and chloride-dependent beta...
SLC6A12
81Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10C → Y in AAA66574 (PubMed:7861179).Curated1
Sequence conflicti571 – 572QL → HV in AAA87029 (PubMed:7589472).Curated2
Sequence conflicti576D → N in BAG36439 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05870410C → R3 PublicationsCorresponds to variant dbSNP:rs557881Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U27699 mRNA Translation: AAA87029.1
L42300 mRNA Translation: AAA66574.1
AK313690 mRNA Translation: BAG36439.1
AC007406 mRNA No translation available.
CH471116 Genomic DNA Translation: EAW88975.1
CH471116 Genomic DNA Translation: EAW88976.1
CH471116 Genomic DNA Translation: EAW88977.1
CH471116 Genomic DNA Translation: EAW88978.1
BC126215 mRNA Translation: AAI26216.1
BC126217 mRNA Translation: AAI26218.1
CCDSiCCDS8501.1
PIRiS68236
RefSeqiNP_001116319.1, NM_001122847.2
NP_001116320.1, NM_001122848.2
NP_001193860.1, NM_001206931.1
NP_003035.3, NM_003044.4
XP_011519312.1, XM_011521010.1
UniGeneiHs.437174
Hs.737267

Genome annotation databases

EnsembliENST00000359674; ENSP00000352702; ENSG00000111181
ENST00000397296; ENSP00000380464; ENSG00000111181
ENST00000424061; ENSP00000399136; ENSG00000111181
ENST00000536824; ENSP00000444268; ENSG00000111181
GeneIDi6539
KEGGihsa:6539
UCSCiuc001qhz.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U27699 mRNA Translation: AAA87029.1
L42300 mRNA Translation: AAA66574.1
AK313690 mRNA Translation: BAG36439.1
AC007406 mRNA No translation available.
CH471116 Genomic DNA Translation: EAW88975.1
CH471116 Genomic DNA Translation: EAW88976.1
CH471116 Genomic DNA Translation: EAW88977.1
CH471116 Genomic DNA Translation: EAW88978.1
BC126215 mRNA Translation: AAI26216.1
BC126217 mRNA Translation: AAI26218.1
CCDSiCCDS8501.1
PIRiS68236
RefSeqiNP_001116319.1, NM_001122847.2
NP_001116320.1, NM_001122848.2
NP_001193860.1, NM_001206931.1
NP_003035.3, NM_003044.4
XP_011519312.1, XM_011521010.1
UniGeneiHs.437174
Hs.737267

3D structure databases

ProteinModelPortaliP48065
SMRiP48065
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112430, 2 interactors
IntActiP48065, 3 interactors
MINTiP48065
STRINGi9606.ENSP00000352702

Chemistry databases

BindingDBiP48065
ChEMBLiCHEMBL3715
DrugBankiDB08848 Guvacine
GuidetoPHARMACOLOGYi932

Protein family/group databases

TCDBi2.A.22.3.1 the neurotransmitter:sodium symporter (nss) family

PTM databases

PhosphoSitePlusiP48065

Polymorphism and mutation databases

BioMutaiSLC6A12
DMDMi257050987

Proteomic databases

MaxQBiP48065
PaxDbiP48065
PeptideAtlasiP48065
PRIDEiP48065
ProteomicsDBi55859

Protocols and materials databases

DNASUi6539
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359674; ENSP00000352702; ENSG00000111181
ENST00000397296; ENSP00000380464; ENSG00000111181
ENST00000424061; ENSP00000399136; ENSG00000111181
ENST00000536824; ENSP00000444268; ENSG00000111181
GeneIDi6539
KEGGihsa:6539
UCSCiuc001qhz.4 human

Organism-specific databases

CTDi6539
DisGeNETi6539
EuPathDBiHostDB:ENSG00000111181.12
GeneCardsiSLC6A12
H-InvDBiHIX0037041
HIX0201858
HGNCiHGNC:11045 SLC6A12
HPAiHPA034973
MIMi603080 gene
neXtProtiNX_P48065
OpenTargetsiENSG00000111181
PharmGKBiPA35908
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00760000118857
HOGENOMiHOG000116406
HOVERGENiHBG071421
InParanoidiP48065
KOiK05039
OMAiNFTSPVM
OrthoDBiEOG091G08PX
PhylomeDBiP48065
TreeFamiTF343812

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-71288 Creatine metabolism
R-HSA-888593 Reuptake of GABA
SIGNORiP48065

Miscellaneous databases

ChiTaRSiSLC6A12 human
GenomeRNAii6539
PROiPR:P48065
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111181 Expressed in 110 organ(s), highest expression level in cortex of kidney
CleanExiHS_SLC6A12
ExpressionAtlasiP48065 baseline and differential
GenevisibleiP48065 HS

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002983 Na/ntran_symport_betaine
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR01198 BETTRANSPORT
PR00176 NANEUSMPORT
SUPFAMiSSF161070 SSF161070, 1 hit
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS6A12_HUMAN
AccessioniPrimary (citable) accession number: P48065
Secondary accession number(s): A0AV52, B2R992, D3DUN8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: September 1, 2009
Last modified: September 12, 2018
This is version 155 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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