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SLC6A7 solute carrier family 6 member 7 [ Homo sapiens (human) ]

Gene ID: 6534, updated on 3-Apr-2024

Summary

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Official Symbol
SLC6A7provided by HGNC
Official Full Name
solute carrier family 6 member 7provided by HGNC
Primary source
HGNC:HGNC:11054
See related
Ensembl:ENSG00000011083 MIM:606205; AllianceGenome:HGNC:11054
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PROT
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]
Expression
Biased expression in brain (RPKM 4.6), small intestine (RPKM 0.9) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
5q32
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150190062..150211063)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150721251..150747665)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149569625..149590626)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CSF1R promoter E1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149497723-149498310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149499971-149500878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149507353-149507854 Neighboring gene platelet derived growth factor receptor beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149509491-149510101 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149515109-149515620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149515621-149516130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149516131-149516642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149517153-149517664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149526270-149526796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149532128-149532648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149532649-149533168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149537326-149538114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149540489-149541398 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:149565453-149566393 Neighboring gene caudal type homeobox 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149585404-149586030 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:149587985-149589184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149589159-149589702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149590543-149591114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149606977-149607538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149607539-149608100 Neighboring gene calcium/calmodulin dependent protein kinase II alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149637006-149637189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149644251-149644786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149672518-149673099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149673100-149673680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149681719-149682259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149682260-149682800 Neighboring gene arylsulfatase family member I

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma. Kim JH, et al. J Hum Genet, 2010 Jun. PMID 20431603
  2. Mammalian brain-specific L-proline transporter. Neuronal localization of mRNA and enrichment of transporter protein in synaptic plasma membranes. Velaz-Faircloth M, et al. J Biol Chem, 1995 Jun 30. PMID 7797577
  3. Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes. Shafqat S, et al. Mol Pharmacol, 1995 Aug. PMID 7651355
  4. Genetical genomic determinants of alcohol consumption in rats and humans. Tabakoff B, et al. BMC Biol, 2009 Oct 27. PMID 19874574, Free PMC Article
  5. 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. Yokoyama K, et al. Nephron Clin Pract, 2010. PMID 20424473

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. these findings suggest that SLC6A7 could be a susceptible gene for asthma.
    Title: A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-proline transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-proline transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proline:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables proline:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables proline:sodium symporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in amino acid import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
  
involved_in proline transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in proline transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proline transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein catabolic process EXP
Inferred from Experiment
more info
 PubMed 
involved_in protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in synapse EXP
Inferred from Experiment
more info
 PubMed 
is_active_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sodium-dependent proline transporter
Names
brain-specific L-proline transporter
solute carrier family 6 (neurotransmitter transporter, L-proline), member 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014228.5 → NP_055043.2  sodium-dependent proline transporter

    See identical proteins and their annotated locations for NP_055043.2

    Status: VALIDATED

    Source sequence(s)
    AC005895, AK096607, BC069631, BM682856
    Consensus CDS
    CCDS4305.1
    UniProtKB/Swiss-Prot
    Q0VG81, Q52LU6, Q99884
    UniProtKB/TrEMBL
    B2R5T7
    Related
    ENSP00000230671.2, ENST00000230671.7
    Conserved Domains (1) summary
    cd11500
    Location:37 → 581
    SLC6sbd_PROT; Na(+)- and Cl(-)-dependent L-proline transporter PROT; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    150190062..150211063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009767.2 → XP_016865256.1  sodium-dependent proline transporter isoform X1

    UniProtKB/TrEMBL
    B2R5T7
    Conserved Domains (1) summary
    cd11500
    Location:118 → 699
    SLC6sbd_PROT; Na(+)- and Cl(-)-dependent L-proline transporter PROT; solute-binding domain

  2. XM_047417586.1 → XP_047273542.1  sodium-dependent proline transporter isoform X3

  3. XM_047417587.1 → XP_047273543.1  sodium-dependent proline transporter isoform X4

  4. XM_047417588.1 → XP_047273544.1  sodium-dependent proline transporter isoform X5

  5. XM_017009769.3 → XP_016865258.1  sodium-dependent proline transporter isoform X2

    UniProtKB/TrEMBL
    B2R5T7
    Conserved Domains (1) summary
    cl00456
    Location:1 → 537
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  6. XM_017009768.3 → XP_016865257.1  sodium-dependent proline transporter isoform X2

    UniProtKB/TrEMBL
    B2R5T7
    Conserved Domains (1) summary
    cl00456
    Location:1 → 537
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150721251..150747665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353241.1 → XP_054209216.1  sodium-dependent proline transporter isoform X6

  2. XM_054353243.1 → XP_054209218.1  sodium-dependent proline transporter isoform X2

  3. XM_054353242.1 → XP_054209217.1  sodium-dependent proline transporter isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99884.2 GenPept UniProtKB/Swiss-Prot:Q99884

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