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

    Gene ID: 6534, updated on 27-Nov-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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    See SLC6A7 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150190062..150211063)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150721251..150747665)
    RS_2024_09 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)

    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 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 glycine 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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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