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SLC6A7 - solute carrier family 6 member 7 Gene

Also Known as PROT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6534

About SLC6A7

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:150,190,062-150,211,063 (from NCBI)

This gene has 3 transcripts (splice variants), 124 orthologues and 19 paralogues. Biased expression in brain (RPKM 4.6), small intestine (RPKM 0.9) and 2 other tissues.

Summary

This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from Other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]

SLC6A7 Products (1)

mRNA	Protein	Name
NM_014228.5	NP_055043.2	sodium-dependent proline transporter

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables L-proline transmembrane transporter activity	IDA IDA: Inferred from direct assay	7651355	GOA
enables proline:sodium symporter activity	IDA IDA: Inferred from direct assay	7651355	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proline transport	IDA IDA: Inferred from direct assay	7651355	GOA
involved in protein catabolic process	EXP EXP: Inferred from Experiment	7651355	GOA
involved in protein catabolic process	IDA IDA: Inferred from direct assay	7651355	GOA
involved in protein catabolic process	IMP IMP: Inferred from mutant phenotype	7651355	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in synapse	EXP EXP: Inferred from Experiment	7651355	GOA
is active in synapse	IDA IDA: Inferred from direct assay	7651355	GOA
is active in synapse	IMP IMP: Inferred from mutant phenotype	7651355	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A7 Protein Structure

SNF

0
100
200
300
400
500
600
636 a.a.

Protein Preferred Names	Protein Names
sodium-dependent proline transporter	brain-specific L-proline transporter

Related Diseases

Diseases	Alias
Epiphyseal Chondrodysplasia, Miura Type	ECDM Tall Stature-Scoliosis-Macrodactyly Of The Great Toes Syndrome Miura Type Epiphyseal Chondrodysplasia Tall Stature-Scoliosis-Macrodactyly Of The Halluces Syndrome Tall Stature-Long Halluces-Multiple Extra-Epiphyses Syndrome Chondrodysplasia, Epiphyseal, Miura Type
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	VKCFD1 Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1 Vitamin K-Dependent Coagulation Defect Multiple Coagulation Factor Deficiency Iii Mcfd3 Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1 Vkcfd Familial Multiple Coagulation Factor Deficiency Iii Fmfd Iii Factors Ii, Vii, Ix, And X, Combined Deficiency Of Glutamic Acid, Deficient Gamma-Carboxylation Of
Hartnup Disorder	Hartnup Disease HND Neutral 1 Amino Acid Transport Defect Neutral Amino Acid Transport Defect Deficiency Of Tryptophan Oxygenase Hartnup'S Disease Aminoaciduria, Hartnup Type Disorder Of Neutral Amino Acid Transport
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Iminoglycinuria	Iminoglycinuria, Digenic IG

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-113745	LX-6171	Inhibitor	97.09%	Phase 2

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13318	SLC6A7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC6A7	VGNC	VGNC:77623
Felis catus	SLC6A7	VGNC	VGNC:65419
Canis familiaris	SLC6A7	VGNC	VGNC:46468
Bos taurus	SLC6A7	VGNC	VGNC:34923
Rattus norvegicus	SLC6A7	RGD	RGD:620928
Mus musculus	SLC6A7	MGD	MGI:2147363
Others	SLC6A7	NCBI