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SLC6A7 Gene(Protein Coding)

Solute Carrier Family 6 Member 7

GCID:
GC05P150156
GIFtS:
56
Genes Participants
UDN Logo

Aliases for SLC6A7 Gene

Aliases for SLC6A7 Gene

  • Solute Carrier Family 6 Member 7 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, L-Proline), Member 7 2 3
  • Brain-Specific L-Proline Transporter 2 3
  • Sodium-Dependent Proline Transporter 2 3
  • PROT 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 7 2

External Ids for SLC6A7 Gene

Previous GeneCards Identifiers for SLC6A7 Gene

  • GC05P149640
  • GC05P149598
  • GC05P149549
  • GC05P144717
  • GC05P149569

Summaries for SLC6A7 Gene

Entrez Gene Summary for SLC6A7 Gene

  • 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]

GeneCards Summary for SLC6A7 Gene

SLC6A7 (Solute Carrier Family 6 Member 7) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A9.

UniProtKB/Swiss-Prot for SLC6A7 Gene

  • Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A7 Gene

Genomics for SLC6A7 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SLC6A7 Gene

Enhancers for SLC6A7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G150208 1.3 Ensembl ENCODE dbSUPER 28.2 +19.2 19195 1.9 HDGF CTCF TAF1 CEBPG EBF1 POLR2A FOS RELB SMARCC1 MTA2 SLC6A7 CAMK2A
GH05G150286 1 FANTOM5 dbSUPER 22.4 +96.2 96244 0.2 PKNOX1 ZNF394 ZIC2 OSR2 GATA3 PATZ1 KDM1A ZNF600 NR2C2 SLC6A7 CAMK2A PDGFRB TCOF1
GH05G150133 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -48.3 -48344 15.5 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B DMAP1 FEZF1 YY1 ZNF766 CDX1 SLC6A7 CSF1R TCOF1 CAMK2A PDGFRB RPS14 SYNPO
GH05G150316 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +130.2 130190 8.0 FOXA2 CREB3L1 ARNT SIN3A FEZF1 ZNF766 FOS KLF13 REST SMARCB1 PDGFRB CAMK2A TCOF1 SLC6A7 CDX1 CSF1R SYNPO ARSI
GH05G150152 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -28.9 -28919 17.7 HDGF PKNOX1 FOXA2 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 CDX1 HMGXB3 SLC6A7 PDGFRB SYNPO
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A7 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SLC6A7 gene promoter:

Genomic Location for SLC6A7 Gene

Chromosome:
5
Start:
150,189,957 bp from pter
End:
150,222,788 bp from pter
Size:
32,832 bases
Orientation:
Plus strand

Genomic View for SLC6A7 Gene

Genes around SLC6A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC6A7 Gene

Proteins for SLC6A7 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SLC6A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99884-SC6A7_HUMAN
    Recommended name:
    Sodium-dependent proline transporter
    Protein Accession:
    Q99884
    Secondary Accessions:
    • Q0VG81
    • Q52LU6

    Protein attributes for SLC6A7 Gene

    Size:
    636 amino acids
    Molecular mass:
    70911 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC6A7 Gene

Protein Expression for SLC6A7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC6A7 Gene

  • Glycosylation at Asn182
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A7 Gene

Domains & Families for SLC6A7 Gene

Gene Families for SLC6A7 Gene

HGNC:
IUPHAR :

Protein Domains for SLC6A7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC6A7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99884

UniProtKB/Swiss-Prot:

SC6A7_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A7 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A7 subfamily.
genes like me logo Genes that share domains with SLC6A7: view

Function for SLC6A7 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for SLC6A7 Gene

UniProtKB/Swiss-Prot Function:
Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals.

Gene Ontology (GO) - Molecular Function for SLC6A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005298 proline:sodium symporter activity TAS --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015193 L-proline transmembrane transporter activity IBA,IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A7: view
genes like me logo Genes that share phenotypes with SLC6A7: view

Animal Model Products

CRISPR Products

miRNA for SLC6A7 Gene

miRTarBase miRNAs that target SLC6A7

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC6A7 Gene

Localization for SLC6A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A7 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A7 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7651355
GO:0016020 membrane IEA,TAS 7651355
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC6A7: view

Pathways & Interactions for SLC6A7 Gene

genes like me logo Genes that share pathways with SLC6A7: view

Pathways by source for SLC6A7 Gene

1 BioSystems pathway for SLC6A7 Gene

Gene Ontology (GO) - Biological Process for SLC6A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 7651355
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport IEA --
GO:0015824 proline transport TAS 7651355
GO:0035524 proline transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC6A7: view

No data available for SIGNOR curated interactions for SLC6A7 Gene

Drugs & Compounds for SLC6A7 Gene

Products:

  1. Drug

(3) Drugs for SLC6A7 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
LP-403812 Pharma Inhibition, Inhibitor 0

(1) Additional Compounds for SLC6A7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
 7440-23-5
genes like me logo Genes that share compounds with SLC6A7: view

Transcripts for SLC6A7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SLC6A7 Gene

(5) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC6A7 Gene

Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A7 Gene

No ASD Table

Relevant External Links for SLC6A7 Gene

GeneLoc Exon Structure for
SLC6A7
ECgene alternative splicing isoforms for
SLC6A7

Expression for SLC6A7 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A7 Gene

mRNA expression in normal human tissues for SLC6A7 Gene
mRNA expression by BioGPS for SLC6A7 GenemRNA expression by GTEx for SLC6A7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A7 Gene

This gene is overexpressed in Brain - Cerebellum (x12.9), Brain - Cerebellar Hemisphere (x11.7), Brain - Cortex (x7.7), Brain - Frontal Cortex (BA9) (x6.4), and Brain - Anterior cingulate cortex (BA24) (x4.9).

Protein differential expression in normal tissues from HIPED for SLC6A7 Gene

This gene is overexpressed in Frontal cortex (52.5) and Fetal Brain (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC6A7 Gene



Protein tissue co-expression partners for SLC6A7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A7 Gene:

SLC6A7

SOURCE GeneReport for Unigene cluster for SLC6A7 Gene:

Hs.241597

mRNA Expression by UniProt/SwissProt for SLC6A7 Gene:

Q99884-SC6A7_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for SLC6A7 Gene

  • Nervous system(4.8)
  • Intestine(4.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with SLC6A7: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A7 Gene

Orthologs for SLC6A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SLC6A7 34 35
  • 99.32 (n)
cow
(Bos Taurus)
 Mammalia SLC6A7 34 35
  • 93.87 (n)
dog
(Canis familiaris)
 Mammalia SLC6A7 34 35
  • 91.69 (n)
mouse
(Mus musculus)
 Mammalia Slc6a7 34 16 35
  • 90.46 (n)
oppossum
(Monodelphis domestica)
 Mammalia SLC6A7 35
  • 90 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC6A7 35
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SLC6A7 34 35
  • 80.42 (n)
lizard
(Anolis carolinensis)
 Reptilia SLC6A7 35
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia slc6a7 34
  • 74.76 (n)
zebrafish
(Danio rerio)
 Actinopterygii SLC6A7 35
  • 44 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG5549 36
  • 45 (a)
ine 36
  • 42 (a)
CG4476 36
  • 40 (a)
CG3252 36
  • 39 (a)
BG:DS03431.1 36
  • 38 (a)
CG8850 36
  • 37 (a)
CG10804 36
  • 36 (a)
CG1698 36
  • 36 (a)
CG7075 36
  • 34 (a)
worm
(Caenorhabditis elegans)
 Secernentea snf-4 36
  • 35 (a)
snf-3 35
  • 34 (a)
 OneToOne
snf-12 36
  • 32 (a)
snf-6 36
  • 32 (a)
snf-9 36
  • 32 (a)
snf-5 36
  • 31 (a)
snf-2 36
  • 29 (a)
snf-8 36
  • 25 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 52 (a)
 OneToMany
CSA.4092 35
  • 48 (a)
 OneToMany
CSA.62 35
  • 46 (a)
 OneToMany
Species where no ortholog for SLC6A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A7 Gene

ENSEMBL:
Gene Tree for SLC6A7 (if available)
TreeFam:
Gene Tree for SLC6A7 (if available)

Paralogs for SLC6A7 Gene

Paralogs for SLC6A7 Gene

(21) SIMAP similar genes for SLC6A7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC6A7: view

Variants for SLC6A7 Gene

Sequence variations from dbSNP and Humsavar for SLC6A7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000294072 -- 150,198,508(+) AAAGG(A/G)TTTGA intron-variant
rs1000402315 -- 150,198,639(+) GAAGG(A/G)ACTTT intron-variant
rs1000803928 -- 150,210,007(+) TCAGG(G/T)CCTAC nc-transcript-variant, utr-variant-3-prime
rs1000947919 -- 150,191,579(+) GCGCC(C/T)GCCAC intron-variant
rs1001065708 -- 150,191,328(+) ATACA(A/C)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A7 Gene

Variant ID Type Subtype PubMed ID
dgv3193n106 CNV deletion 24896259
esv2762556 CNV gain 21179565
nsv462487 CNV loss 19166990
nsv599956 CNV loss 21841781

Variation tolerance for SLC6A7 Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A7 Gene

Disorders for SLC6A7 Gene

Relevant External Links for SLC6A7

Genetic Association Database (GAD)
SLC6A7
Human Genome Epidemiology (HuGE) Navigator
SLC6A7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A7

No disorders were found for SLC6A7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC6A7 Gene

Publications for SLC6A7 Gene

  1. Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes. (PMID: 7651355) Shafqat S. … Fremeau R.T. Jr. (Mol. Pharmacol. 1995) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  4. A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma. (PMID: 20431603) Kim J.H. … Shin H.D. (J. Hum. Genet. 2010) 3 46 64
  5. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B. … Hoffman P.L. (BMC Biol. 2009) 3 46 64

Products for SLC6A7 Gene

Sources for SLC6A7 Gene

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