1. Gene
  2. SLC6A7 - solute carrier family 6 member 7 Gene

SLC6A7 - solute carrier family 6 member 7 Gene

Homo sapiens

Also known as PROT

Gene ID: 6534 | Gene type: protein coding

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

SLC6A7 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (37 - 560)

  • 0
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  • 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

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