• Gene id: 6534

Gene Summary

• Gene Symbol: SLC6A7   Gene   UCSC   Ensembl
• Aliases: PROT
• Gene name: solute carrier family 6 member 7
• Alternate names: sodium-dependent proline transporter, brain-specific L-proline transporter, solute carrier family 6 (neurotransmitter transporter, L-proline), member 7,
• Gene location: 5q32 (150190061: 150211071)     Exons: 16     NC_000005.10
• Gene summary(Entrez): 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 it
• OMIM: 180090

Protein Summary

• Protein general information: Q99884  
  • Name: Sodium dependent proline transporter (Solute carrier family 6 member 7)
  • Length: 636  
  • Mass: 70911
  • Tissue specificity: Brain.
• Sequence:

  MKKLQGAHLRKPVTPDLLMTPSDQGDVDLDVDFAAHRGNWTGKLDFLLSCIGYCVGLGNVWRFPYRAYTNGGGAF
  LVPYFLMLAICGIPLFFLELSLGQFSSLGPLAVWKISPLFKGAGAAMLLIVGLVAIYYNMIIAYVLFYLFASLTS
  DLPWEHCGNWWNTELCLEHRVSKDGNGALPLNLTCTVSPSEEYWSRYVLHIQGSQGIGSPGEIRWNLCLCLLLAW
  VIVFLCILKGVKSSGKVVYFTATFPYLILLMLLVRGVTLPGAWKGIQFYLTPQFHHLLSSKVWIEAALQIFYSLG
  VGFGGLLTFASYNTFHQNIYRDTFIVTLGNAITSILAGFAIFSVLGYMSQELGVPVDQVAKAGPGLAFVVYPQAM
  TMLPLSPFWSFLFFFMLLTLGLDSQFAFLETIVTAVTDEFPYYLRPKKAVFSGLICVAMYLMGLILTTDGGMYWL
  VLLDDYSASFGLMVVVITTCLAVTRVYGIQRFCRDIHMMLGFKPGLYFRACWLFLSPATLLALMVYSIVKYQPSE
  YGSYRFPPWAELLGILMGLLSCLMIPAGMLVAVLREEGSLWERLQQASRPAMDWGPSLEENRTGMYVATLAGSQS
  PKPLMVHMRKYGGITSFENTAIEVDREIAEEEESMM

• Structural information:
  • Interpro: IPR000175  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000230671
• Other Databases: GeneCards:  SLC6A7  Malacards:  SLC6A7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015193	L-proline transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006865	amino acid transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015824	proline transport	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005298	proline:sodium symporter activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0015193	L-proline transmembrane transporter activity	IEA	molecular function
GO:0035524	proline transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881