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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

Go to the top of the page Help

Markers

D5S2013 (e-PCR)
- UniSTS:6259

D5S2015 (e-PCR)
- UniSTS:80264

SLC6A7_2321 (e-PCR)
- UniSTS:281020

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 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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

150190062..150211063

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047417586.1 → XP_047273542.1 sodium-dependent proline transporter isoform X3
XM_047417587.1 → XP_047273543.1 sodium-dependent proline transporter isoform X4
XM_047417588.1 → XP_047273544.1 sodium-dependent proline transporter isoform X5
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
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