Assignment of the human creatine transporter type 2 (SLC6A10) to chromosome band 16p11.2 by in situ hybridization

Xu, Wangyang; Liu, L.; Gorman, P.A.; Sheer, Denise; Emson, Piers C.

doi:10.1159/000134503

Cited by 10 publications

(4 citation statements)

References 2 publications

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“…SLC6A14 was cloned in 1999 from human mammary gland cDNA (Sloan and Mager, 1999). Its gene is located at chromosome X (Xq23) with the current location -Nelson et al, 1990;Pantanowitz et al, 1993 SLC6A6/TauT taurine, p-alanine 2Na + , 1C1- Liu et al, 1992a;Ramamoorthy et al, 1994 SLC6A8/CTl/CreaTl creatine 2Na + , 1C1- Dai et al, 1999;Nash et al, 1994 SLC6A10/CT2/CreaT2 creatine 2Na + , 1C1-* Iyer et al, 1996;Xu et al, 1997 SLC6A11/GAT3 GABA 2Na + , 1C1- Borden et al, 1994;Clark and Amara, 1994;Karakossian et al, 2005;Liu et al, 1993b SLC6A12/BGT1 betaine/GABA 3Na + , 1C1- Lopez-Corcuera et al, 1992;Yamauchi et al, 1992 SLC6A13/GAT2 GABA 2Na + , 1C1- Borden et al, 1994;Liu et al, 1993b Monoamine neurotransmitter transporters: -Gu et al, 1994;Gu et al, 1996;Pacholczyk et al, 1991 SLC6A3/DAT dopamine 2Na + , 1C1- Gu et al, 1994;Shimada et al, 1991 SLC6A4/SERT serotonin 1Na + , 1Cl − , 1K + Gu et al, 1994;Hoffman et al, 1991 Amino acid transporters (I): -Liu et al, 1993a;Roux and Supplisson, 2000 SLC6A7/PROT proline 2Na + , 1C1- Fremeau et al, 1992;Galli et al, 1999 SLC6A9/GlyTl glycine 2Na + , 1C1- Liu et al, 1992b;Roux and Supplisson, 2000 SLC6A14/ATB 0,+ neutral, cationic amino acids 2Na + , 1C1- Nakanishi et al, 2001;Sloan and Mager, 1999 Amino acid/nutrient transporters (II): Kowalczuk et al, 2005;Takanaga et al, 2005 GABA, γ-aminobutyric acid; * , stoichiometry not determined.…”

Section: Slc6a14 -A Transporter With Broad Substrate Specificitymentioning

confidence: 99%

Amino Acid Transporter SLC6A14 (ATB0,+) – A Target in Combined Anti-cancer Therapy

Nałęcz

2020

Front. Cell Dev. Biol.

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Cancer cells are characterized by quick growth and proliferation, demanding constant supply of various nutrients. Several plasma membrane transporters delivering such compounds are upregulated in cancer. Solute carrier family 6 member 14 (SLC6A14), known as amino acid transporter B 0,+ (ATB 0,+) transports all amino acids with exception of the acidic ones: aspartate and glutamate. Its malfunctioning is correlated with several pathological states and it is upregulated in solid tumors. The high expression of SLC6A14 is prognostic and unfavorable in pancreatic cancer, while in breast cancer it is expressed in estrogen receptor positive cells. As many plasma membrane transporters it resides in endoplasmic reticulum (ER) membrane after translation before further trafficking through Golgi to the cell surface. Transporter exit from ER is strictly controlled. The proper folding of SLC6A14 was shown to be controlled from the cytoplasmic side by heat shock proteins, further exit from ER and formation of coatomer II (COPII) coated vesicles depends on specific interaction with COPII cargo-recognizing subunit SEC24C, phosphorylated by kinase AKT. Inhibition of heat shock proteins, known to be upregulated in cancer, directs SLC6A14 to degradation. Targeting proteins regulating SLC6A14 trafficking is proposed as an additional pharmacological treatment of cancer.

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Section: Slc6a14 -A Transporter With Broad Substrate Specificitymentioning

confidence: 99%

Amino Acid Transporter SLC6A14 (ATB0,+) – A Target in Combined Anti-cancer Therapy

Nałęcz

2020

Front. Cell Dev. Biol.

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“…is expressed in testis only (Iyer et al 1996;Xu et al 1997). Recently, an inborn error of creatine biosynthesis was identified as a result of GAMT deficiency (Stö ckler et al 1996a(Stö ckler et al , 1996bSchulze et al 1997;van der Knaap et al 2000).…”

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confidence: 99%

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Salomons

Dooren

Verhoeven

et al. 2001

The American Journal of Human Genetics

358

244

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We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal. However, creatine in urine and plasma was increased, and guanidinoacetate levels were normal. In three female relatives of the index patient, mild biochemical abnormalities and learning disabilities were present, to various extents. Fibroblasts from the index patient contained a hemizygous nonsense mutation in the gene SLC6A8 and were defective in creatine uptake. The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28.

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“…It is also known as SLC6A10 or CT2 [12]. The mRNA sequence BC012355 reported by Strausberg et al [13] is 2168 bp with a coding sequence of 1908 bp and 636 amino acids predicted.…”

Section: Discussionmentioning

confidence: 99%

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

Bayou¹,

Mrad

Belhaj

et al. 2008

Comparative and Functional Genomics

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Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated in families and twin studies. About 5–10% of autism cases are associated with chromosomal abnormalities or monogenic disorders. The identification of genes involved in the origin of autism is expected to increase our understanding of the pathogenesis. We report on the clinical, cytogenetic, and molecular findings in a boy with autism carrying a de novo translocation t(7;16)(p22.1;p11.2). The chromosome 16 breakpoint disrupts the paralogous SLC6A8 gene also called SLC6A10 or CT2. Predicted translation of exons and RT-PCR analysis reveal specific expression of the creatine transporter paralogous in testis and brain. Several studies reported on the role of X-linked creatine transporter mutations in individuals with mental retardation, with or without autism. The existence of disruption in SLC6A8 paralogous gene associated with idiopathic autism suggests that this gene may be involved in the autistic phenotype in our patient.

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Assignment of the human creatine transporter type 2 (SLC6A10) to chromosome band 16p11.2 by in situ hybridization

Cited by 10 publications

References 2 publications

Amino Acid Transporter SLC6A14 (ATB0,+) – A Target in Combined Anti-cancer Therapy

Amino Acid Transporter SLC6A14 (ATB0,+) – A Target in Combined Anti-cancer Therapy

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

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