SLC6A7 (solute carrier family 6 member 7)

Gene

• Entrez ID: 6534
• Gene name: Solute carrier family 6 member 7
• Gene symbol: SLC6A7
• Synonyms (NCBI Gene): PROT
• Chromosome: 5
• Chromosome location: 5q32
• 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 it

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1366585	hsa-miR-101	CLIP-seq
MIRT1366586	hsa-miR-1304	CLIP-seq
MIRT1366587	hsa-miR-146b-3p	CLIP-seq
MIRT1366588	hsa-miR-3126-5p	CLIP-seq
MIRT1366589	hsa-miR-3157-3p	CLIP-seq
MIRT1366590	hsa-miR-3173-5p	CLIP-seq
MIRT1366591	hsa-miR-339-5p	CLIP-seq
MIRT1366592	hsa-miR-4279	CLIP-seq
MIRT1366593	hsa-miR-4419a	CLIP-seq
MIRT1366594	hsa-miR-4510	CLIP-seq
MIRT1366595	hsa-miR-711	CLIP-seq
MIRT1366596	hsa-miR-874	CLIP-seq
MIRT2108757	hsa-miR-1260	CLIP-seq
MIRT2108758	hsa-miR-1260b	CLIP-seq
MIRT2332382	hsa-miR-1913	CLIP-seq
MIRT2332383	hsa-miR-3154	CLIP-seq
MIRT2332384	hsa-miR-324-3p	CLIP-seq
MIRT2332385	hsa-miR-4475	CLIP-seq
MIRT2332386	hsa-miR-4660	CLIP-seq
MIRT2394809	hsa-miR-3616-3p	CLIP-seq
MIRT2691274	hsa-miR-1291	CLIP-seq
MIRT2691275	hsa-miR-1321	CLIP-seq
MIRT2691276	hsa-miR-4728-5p	CLIP-seq
MIRT2691277	hsa-miR-4739	CLIP-seq
MIRT2691278	hsa-miR-4747-3p	CLIP-seq
MIRT2691279	hsa-miR-4756-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005298	Function	Proline:sodium symporter activity	IBA
GO:0005298	Function	Proline:sodium symporter activity	IDA	7651355
GO:0005298	Function	Proline:sodium symporter activity	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7651355
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IEA
GO:0015193	Function	L-proline transmembrane transporter activity	IDA	7651355
GO:0015193	Function	L-proline transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015824	Process	Proline transport	IBA
GO:0015824	Process	Proline transport	IDA	7651355
GO:0015824	Process	Proline transport	TAS	7651355
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7651355
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030163	Process	Protein catabolic process	EXP	7651355
GO:0030163	Process	Protein catabolic process	IDA	7651355
GO:0030163	Process	Protein catabolic process	IMP	7651355
GO:0035524	Process	Proline transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0045202	Component	Synapse	EXP	7651355
GO:0045202	Component	Synapse	IDA	7651355
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IMP	7651355
GO:0097060	Component	Synaptic membrane	IEA
GO:1903804	Process	Glycine import across plasma membrane	IBA

Other IDs

• MIM: 606205
• HGNC: 11054
• e!Ensembl: ENSG00000011083

Protein

• UniProt ID: Q99884
• Protein name: Sodium-dependent proline transporter (Solute carrier family 6 member 7)
• Protein function: Brain specific sodium (and chloride)-dependent proline transporter (PubMed:7651355). Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals (Probable). {ECO:0000269|PubMed:7651355, ECO:0000305|
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	37 → 561	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain specific (at protein level) (PubMed:7651355). Highly expressed in hippocampus, corpus striatum and temporal cortex. Also expressed in frontal cortex, occipital cortex and, at lower levels, in cerebellum and parietal cortex (at pr
• Sequence:

  MKKLQGAHLRKPVTPDLLMTPSDQGDVDLDVDFAAHRGNWTGKLDFLLSCIGYCVGLGNV
  WRFPYRAYTNGGGAFLVPYFLMLAICGIPLFFLELSLGQFSSLGPLAVWKISPLFKGAGA
  AMLLIVGLVAIYYNMIIAYVLFYLFASLTSDLPWEHCGNWWNTELCLEHRVSKDGNGALP
  LNLTCTVSPSEEYWSRYVLHIQGSQGIGSPGEIRWNLCLCLLLAWVIVFLCILKGVKSSG
  KVVYFTATFPYLILLMLLVRGVTLPGAWKGIQFYLTPQFHHLLSSKVWIEAALQIFYSLG
  VGFGGLLTFASYNTFHQNIYRDTFIVTLGNAITSILAGFAIFSVLGYMSQELGVPVDQVA
  KAGPGLAFVVYPQAMTMLPLSPFWSFLFFFMLLTLGLDSQFAFLETIVTAVTDEFPYYLR
  PKKAVFSGLICVAMYLMGLILTTDGGMYWLVLLDDYSASFGLMVVVITTCLAVTRVYGIQ
  RFCRDIHMMLGFKPGLYFRACWLFLSPATLLALMVYSIVKYQPSEYGSYRFPPWAELLGI
  LMGLLSCLMIPAGMLVAVLREEGSLWERLQQASRPAMDWGPSLEENRTGMYVATLAGSQS
  PKPLMVHMRKYGGITSFENTAIEVDREIAEEEESMM

• Sequence length: 636

Pathways

KEGG:

Synaptic vesicle cycle

Reactome:

Na+/Cl- dependent neurotransmitter transporters
Creatine metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	20431603		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	23918153	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16939197		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23695276	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23695276		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	23695276		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30177871		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29551590		★☆☆☆☆ Found in Text Mining only