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SLC6A9 solute carrier family 6 member 9 [ Homo sapiens (human) ]

Gene ID: 6536, updated on 27-Nov-2024

Summary

Official Symbol
SLC6A9provided by HGNC
Official Full Name
solute carrier family 6 member 9provided by HGNC
Primary source
HGNC:HGNC:11056
See related
Ensembl:ENSG00000196517 MIM:601019; AllianceGenome:HGNC:11056
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLYT1; GCENSG
Summary
The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]
Expression
Broad expression in skin (RPKM 13.4), adrenal (RPKM 9.7) and 18 other tissues See more
Orthologs
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Genomic context

See SLC6A9 in Genome Data Viewer
Location:
1p34.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43996483..44031462, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43859929..43902553, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44462155..44497134, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44440619-44441451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44443584-44444175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44444176-44444766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44444767-44445358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44447723-44448312 Neighboring gene ATPase H+ transporting V0 subunit b Neighboring gene beta-1,4-galactosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 802 Neighboring gene Sharpr-MPRA regulatory region 11322 Neighboring gene coiled-coil domain containing 24 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44471356-44471562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44476286-44476951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44494509-44495068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44495069-44495626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 804 Neighboring gene uncharacterized LOC107984948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44496268-44496864 Neighboring gene uncharacterized LOC124904168 Neighboring gene VISTA enhancer hs1857 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44507734-44507907 Neighboring gene uncharacterized LOC124904169 Neighboring gene KLF transcription factor 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 806

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?

Phenotypes

Associated conditions

Description Tests
Atypical glycine encephalopathy
MedGen: C4310943 OMIM: 617301 GeneReviews: GLYT1 Encephalopathy
Compare labs

EBI GWAS Catalog

Description
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp547A1118

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amino acid:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glycine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables glycine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
enables glycine:sodium symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glycine: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 glycine import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glycine import across plasma membrane TAS
Traceable Author Statement
more info
PubMed 
involved_in glycine transport IEA
Inferred from Electronic Annotation
more info
 
involved_in glycine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of negative regulation of NMDA glutamate receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of heme biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of hemoglobin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic transmission, glycinergic ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in dense core granule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sodium- and chloride-dependent glycine transporter 1
Names
glyT-1
solute carrier family 6 (neurotransmitter transporter, glycine), member 9

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.

Genomic

  1. NG_050929.1 RefSeqGene

    Range
    5031..40010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024845.3NP_001020016.1  sodium- and chloride-dependent glycine transporter 1 isoform 3

    See identical proteins and their annotated locations for NP_001020016.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 2. The resulting isoform (3) is shorter and has a distinct N-terminus compared to isoform 2. Variants 3 and 9 both encode the same isoform (3).
    Source sequence(s)
    AI884725, AL139220, CN354684, S70609
    Consensus CDS
    CCDS30695.1
    UniProtKB/Swiss-Prot
    P48067
    Related
    ENSP00000361384.4, ENST00000372310.8
    Conserved Domains (1) summary
    cd11498
    Location:11594
    SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain
  2. NM_001261380.2NP_001248309.1  sodium- and chloride-dependent glycine transporter 1 isoform 4

    See identical proteins and their annotated locations for NP_001248309.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region compared to variant 2. The resulting protein (isoform 4) is shorter compared to isoform 2.
    Source sequence(s)
    AK296438, AL139220, DA403430
    UniProtKB/TrEMBL
    B7Z3W8
    Conserved Domains (1) summary
    cd11498
    Location:30598
    SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain
  3. NM_001328626.2NP_001315555.1  sodium- and chloride-dependent glycine transporter 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (5) is shorter at the N-terminus compared to isoform 2.
    Source sequence(s)
    AL139220
    Consensus CDS
    CCDS85966.1
    UniProtKB/TrEMBL
    B7Z589
    Related
    ENSP00000434460.1, ENST00000475075.6
    Conserved Domains (1) summary
    cl00456
    Location:1483
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  4. NM_001328627.1NP_001315556.1  sodium- and chloride-dependent glycine transporter 1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon in the 5' end compared to variant 2. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AL139220
    Conserved Domains (1) summary
    cl00456
    Location:42573
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  5. NM_001328628.1NP_001315557.1  sodium- and chloride-dependent glycine transporter 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate exons in the 5' end compared to variant 2. The resulting isoform (7) has a shorter and distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AL139220
    Conserved Domains (1) summary
    cl00456
    Location:30529
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  6. NM_001328629.1NP_001315558.1  sodium- and chloride-dependent glycine transporter 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 2. Variants 3 and 9 both encode the same isoform (3).
    Source sequence(s)
    AL139220
    Consensus CDS
    CCDS30695.1
    UniProtKB/Swiss-Prot
    P48067
    Related
    ENSP00000501314.1, ENST00000673836.1
    Conserved Domains (1) summary
    cd11498
    Location:11594
    SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain
  7. NM_001328630.2NP_001315559.1  sodium- and chloride-dependent glycine transporter 1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and coding sequence and lacks an alternate 3' in-frame exon compared to variant 2. The resulting isoform (8) is shorter at the N-terminus and lacks an alternate C-terminal segment compared to isoform 2.
    Source sequence(s)
    AL139220
  8. NM_006934.4NP_008865.2  sodium- and chloride-dependent glycine transporter 1 isoform 1

    See identical proteins and their annotated locations for NP_008865.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 2.
    Source sequence(s)
    AI884725, AL139220, S70612
    Consensus CDS
    CCDS41316.1
    UniProtKB/Swiss-Prot
    P48067
    Related
    ENSP00000350362.2, ENST00000357730.6
    Conserved Domains (1) summary
    cd11498
    Location:30613
    SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain
  9. NM_201649.4NP_964012.2  sodium- and chloride-dependent glycine transporter 1 isoform 2

    See identical proteins and their annotated locations for NP_964012.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AI884725, AL139220, S70609
    Consensus CDS
    CCDS41317.1
    UniProtKB/Swiss-Prot
    A6NDH1, A6NII2, A6NNZ8, P48067, Q5TAB8, Q5TAB9, Q5TAC0
    Related
    ENSP00000353791.2, ENST00000360584.6
    Conserved Domains (1) summary
    cd11498
    Location:84667
    SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain

RNA

  1. NR_048548.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate 5' exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK315233, AL139220

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43996483..44031462 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428739.1XP_047284695.1  sodium- and chloride-dependent glycine transporter 1 isoform X1

  2. XM_047428740.1XP_047284696.1  sodium- and chloride-dependent glycine transporter 1 isoform X2

  3. XM_017002152.3XP_016857641.1  sodium- and chloride-dependent glycine transporter 1 isoform X4

  4. XM_047428744.1XP_047284700.1  sodium- and chloride-dependent glycine transporter 1 isoform X6

    Related
    ENSP00000361380.3, ENST00000372306.7
  5. XM_047428743.1XP_047284699.1  sodium- and chloride-dependent glycine transporter 1 isoform X5

  6. XM_011542017.3XP_011540319.1  sodium- and chloride-dependent glycine transporter 1 isoform X3

    Conserved Domains (1) summary
    cl00456
    Location:84585
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    43859929..43902553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338436.1XP_054194411.1  sodium- and chloride-dependent glycine transporter 1 isoform X10

  2. XM_054338437.1XP_054194412.1  sodium- and chloride-dependent glycine transporter 1 isoform X10

  3. XM_054338430.1XP_054194405.1  sodium- and chloride-dependent glycine transporter 1 isoform X8

  4. XM_054338443.1XP_054194418.1  sodium- and chloride-dependent glycine transporter 1 isoform X12

    UniProtKB/TrEMBL
    B7Z3A9
  5. XM_054338435.1XP_054194410.1  sodium- and chloride-dependent glycine transporter 1 isoform X10

  6. XM_054338431.1XP_054194406.1  sodium- and chloride-dependent glycine transporter 1 isoform X8

  7. XM_054338432.1XP_054194407.1  sodium- and chloride-dependent glycine transporter 1 isoform X8

  8. XM_054338440.1XP_054194415.1  sodium- and chloride-dependent glycine transporter 1 isoform X11

  9. XM_054338434.1XP_054194409.1  sodium- and chloride-dependent glycine transporter 1 isoform X9

  10. XM_054338429.1XP_054194404.1  sodium- and chloride-dependent glycine transporter 1 isoform X7

  11. XM_054338433.1XP_054194408.1  sodium- and chloride-dependent glycine transporter 1 isoform X1

  12. XM_054338438.1XP_054194413.1  sodium- and chloride-dependent glycine transporter 1 isoform X2

  13. XM_054338441.1XP_054194416.1  sodium- and chloride-dependent glycine transporter 1 isoform X4

  14. XM_054338444.1XP_054194419.1  sodium- and chloride-dependent glycine transporter 1 isoform X6

  15. XM_054338442.1XP_054194417.1  sodium- and chloride-dependent glycine transporter 1 isoform X5

  16. XM_054338439.1XP_054194414.1  sodium- and chloride-dependent glycine transporter 1 isoform X3