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

Gene ID: 6534, updated on 18-Aug-2020

Summary

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
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

Genomic context

See SLC6A7 in Genome Data Viewer
Location:
5q32
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (150190062..150211072)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149569520..149590635)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CSF1R promoter E1 Neighboring gene platelet derived growth factor receptor beta Neighboring gene caudal type homeobox 1 Neighboring gene calcium/calmodulin dependent protein kinase II alpha Neighboring gene arylsulfatase family member I

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-proline transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proline:sodium symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
proline transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
proline transport TAS
Traceable Author Statement
more info
PubMed 
sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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_014228.5NP_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
    Q99884
    Related
    ENSP00000230671.2, ENST00000230671.7
    Conserved Domains (1) summary
    cd11500
    Location:37581
    SLC6sbd_PROT; Na(+)- and Cl(-)-dependent L-proline transporter PROT; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    150190062..150211072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017009769.2XP_016865258.1  sodium-dependent proline transporter isoform X2

    Conserved Domains (1) summary
    cl00456
    Location:1537
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. XM_024446190.1XP_024301958.1  sodium-dependent proline transporter isoform X2

    Conserved Domains (1) summary
    cl00456
    Location:1537
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. XM_017009770.2XP_016865259.1  sodium-dependent proline transporter isoform X3

  5. XM_017009768.2XP_016865257.1  sodium-dependent proline transporter isoform X2

    Conserved Domains (1) summary
    cl00456
    Location:1537
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RNA

  1. XR_001742210.1 RNA Sequence

  2. XR_001742211.1 RNA Sequence

  3. XR_001742212.1 RNA Sequence

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