Hmdb loader
Identification
HMDB Protein ID HMDBP02695
Secondary Accession Numbers
  • 8198
Name Sodium- and chloride-dependent betaine transporter
Synonyms
  1. BGT-1
  2. Na(+)/Cl(-) betaine/GABA transporter
  3. Solute carrier family 6 member 12
Gene Name SLC6A12
Protein Type Unknown
Biological Properties
General Function Involved in gamma-aminobutyric acid:sodium symporter ac
Specific Function 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.
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
amino acid transport
cellular hyperosmotic response
cellular water homeostasis
response to organic substance
neurotransmitter secretion
transmembrane transport
Cellular Component
plasma membrane
integral to membrane
integral to plasma membrane
Component
integral to plasma membrane
membrane
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
neurotransmitter transporter activity
neurotransmitter:sodium symporter activity
transmembrane transporter activity
substrate-specific transmembrane transporter activity
organic acid:sodium symporter activity
sodium:amino acid symporter activity
gamma-aminobutyric acid:sodium symporter activity
transporter activity
organic acid transmembrane transporter activity
Molecular Function
gamma-aminobutyric acid:sodium symporter activity
neurotransmitter:sodium symporter activity
Process
establishment of localization
transport
neurotransmitter transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 12
Locus 12p13
SNPs SLC6A12
Gene Sequence
>1845 bp
ATGGACGGGAAGGTGGCAGTGCAAGAGTGTGGGCCTCCTGCAGTCTCCTGGGTCCCCGAG
GAGGGAGAGAAGTTGGACCAGGAAGACGAGGACCAGGTGAAGGATCGGGGCCAATGGACC
AACAAGATGGAGTTTGTGCTGTCAGTGGCCGGGGAGATCATTGGGCTGGGCAATGTCTGG
AGGTTTCCCTATCTCTGCTACAAAAACGGAGGTGGAGCCTTCTTCATCCCCTACTTCATC
TTCTTCTTTGTCTGCGGCATCCCGGTGTTCTTCCTGGAGGTGGCGTTGGGCCAATACACC
AGCCAAGGGAGTGTCACAGCCTGGAGGAAGATCTGCCCCCTCTTCCAGGGCATTGGTCTG
GCATCTGTGGTCATCGAGTCATATTTGAATGTCTACTACATCATCATCCTTGCCTGGGCT
CTCTTCTACCTGTTCAGCTCCTTCACTTCTGAGCTGCCCTGGACGACCTGCAACAACTTT
TGGAACACAGAGCATTGCACGGACTTTCTGAACCACTCAGGAGCCGGCACAGTGACCCCA
TTTGAGAATTTTACCTCACCTGTCATGGAATTCTGGGAGAGACGAGTTCTGGGCATCACC
TCGGGCATCCATGACCTGGGCTCCCTGCGCTGGGAGCTGGCCCTGTGCCTCCTGCTCGCC
TGGGTCATCTGCTATTTCTGCATCTGGAAGGGGGTCAAGTCCACAGGCAAGGTGGTTTAT
TTCACAGCCACGTTTCCGTACCTGATGCTTGTCATTTTGCTGATCAGAGGTGTCACCCTT
CCCGGAGCCTACCAGGGCATCATCTACTACTTGAAGCCAGATTTGTTCCGCCTCAAGGAC
CCTCAGGTGTGGATGGATGCGGGCACCCAGATCTTCTTCTCCTTTGCCATCTGCCAGGGG
TGCCTGACAGCCCTGGGCAGCTACAACAAGTATCACAACAACTGCTACAAGGACTGCATC
GCCCTCTGCTTCCTGAACAGTGCCACCAGCTTTGTGGCTGGGTTTGTTGTCTTCTCCATC
CTGGGCTTCATGTCCCAAGAGCAAGGGGTGCCCATTTCTGAAGTGGCCGAGTCAGGTCCT
GGGCTGGCCTTCATCGCCTTCCCCAAGGCTGTGACTATGATGCCCTTATCCCAGCTGTGG
TCCTGCCTGTTCTTTATCATGCTCATATTCCTAGGGCTGGACAGCCAGTTTGTCTGTGTG
GAGTGCCTGGTGACAGCCTCCATAGACATGTTCCCCAGGCAGCTCCGGAAGAGCGGGCGG
CGCGAGCTCCTCATCCTCACCATCGCCGTCATGTGCTACCTGATAGGGCTTTTCCTGGTC
ACCGAGGGCGGGATGTACATCTTCCAGCTGTTTGACTACTATGCTTCCAGTGGCATATGC
CTGCTGTTCCTGTCATTGTTTGAAGTGGTCTGCATAAGCTGGGTGTATGGGGCGGACCGT
TTCTATGACAACATTGAGGACATGATTGGCTACCGGCCATGGCCCCTGGTGAAGATCTCC
TGGCTCTTCCTGACCCCTGGACTTTGCCTGGCCACTTTCCTCTTCTCCTTGAGCAAGTAC
ACCCCCCTCAAGTACAACAACGTCTATGTGTACCCGCCCTGGGGATACTCCATTGGCTGG
TTCCTGGCTCTGTCCTCCATGGTCTGTGTCCCACTCTTCGTCGTCATCACCCTCCTGAAG
ACTCGGGGTCCTTTCAGGAAGCGTCTGCGTCAGCTCATCACCCCTGACTCCAGTCTGCCA
CAGCCCAAGCAACATCCCTGCTTGGATGGCAGTGCTGGCCGGAACTTTGGGCCCTCCCCA
ACAAGGGAAGGACTGATAGCCGGGGAGAAGGAGACCCATTTGTAG
Protein Properties
Number of Residues 614
Molecular Weight 69367.655
Theoretical pI 6.316
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Sodium- and chloride-dependent betaine transporter
MDGKVAVQECGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL
GenBank ID Protein 171184406
UniProtKB/Swiss-Prot ID P48065
UniProtKB/Swiss-Prot Entry Name S6A12_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_001122847.1
GeneCard ID SLC6A12
GenAtlas ID Not Available
HGNC ID HGNC:11045
References
General References
  1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [PubMed:16541075 ]
  4. Rasola A, Galietta LJ, Barone V, Romeo G, Bagnasco S: Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. FEBS Lett. 1995 Oct 16;373(3):229-33. [PubMed:7589472 ]
  5. Borden LA, Smith KE, Gustafson EL, Branchek TA, Weinshank RL: Cloning and expression of a betaine/GABA transporter from human brain. J Neurochem. 1995 Mar;64(3):977-84. [PubMed:7861179 ]