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

Gene ID: 6534, updated on 22-Sep-2022

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; 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
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Genomic context

See SLC6A7 in Genome Data Viewer
Location:
5q32
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150190062..150211063)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150726669..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 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

Process Evidence Code Pubs
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 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
PubMed 
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
PubMed 
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

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_014228.5NP_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
    Q52LU6, 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 Annotation Release 110 details...Open this link in a new tab

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_017009767.2XP_016865256.1  sodium-dependent proline transporter isoform X1

    Conserved Domains (1) summary
    cd11500
    Location:118699
    SLC6sbd_PROT; Na(+)- and Cl(-)-dependent L-proline transporter PROT; solute-binding domain
  2. XM_047417586.1XP_047273542.1  sodium-dependent proline transporter isoform X3

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

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

  5. XM_017009769.3XP_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
  6. XM_017009768.3XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150726669..150747665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)