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    SLC6A16 solute carrier family 6 member 16 [ Homo sapiens (human) ]

    Gene ID: 28968, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC6A16provided by HGNC
    Official Full Name
    solute carrier family 6 member 16provided by HGNC
    Primary source
    HGNC:HGNC:13622
    See related
    Ensembl:ENSG00000063127 MIM:607972; AllianceGenome:HGNC:13622
    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
    NT5; NTT5
    Summary
    SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 36.6) and ovary (RPKM 1.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC6A16 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49289638..49340330, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52287044..52337761, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49792895..49828448, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985340 Neighboring gene solute carrier family 6 member 21, pseudogene Neighboring gene SUMO1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14930 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49816848-49817070 Neighboring gene microRNA 4324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14931 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49830555-49830706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49842721-49843696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14936 Neighboring gene CD37 molecule Neighboring gene TEA domain transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49863002-49863502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49864048-49864757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49864758-49865466 Neighboring gene uncharacterized LOC101928295 Neighboring gene dickkopf like acrosomal protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of human NTT5 and v7-3: two orphan transporters of the Na+/Cl- -dependent neurotransmitter transporter gene family. Farmer MK, et al. Genomics, 2000 Dec 1. PMID 11112352
    2. Neurotransmitter transporters in the central nervous system. Masson J, et al. Pharmacol Rev, 1999 Sep. PMID 10471414
    3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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 neurotransmitter transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neurotransmitter transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    orphan sodium- and chloride-dependent neurotransmitter transporter NTT5
    Names
    CTC-301O7.4
    solute carrier family 6 (neurotransmitter transporter), member 16

    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_014037.3 → NP_054756.2  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5

      See identical proteins and their annotated locations for NP_054756.2

      Status: VALIDATED

      Source sequence(s)
      AL136856, AW451672, BG772801
      Consensus CDS
      CCDS42590.1
      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9
      Related
      ENSP00000338627.3, ENST00000335875.9
      Conserved Domains (1) summary
      cd11502
      Location:103 → 673
      SLC6sbd_NTT5; Neurotransmitter transporter 5; 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49289638..49340330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438703.1 → XP_047294659.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X3

    2. XM_047438702.1 → XP_047294658.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X1

    3. XM_011526860.3 → XP_011525162.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X4

      Conserved Domains (1) summary
      cd11502
      Location:125 → 695
      SLC6sbd_NTT5; Neurotransmitter transporter 5; solute-binding domain

    4. XM_047438701.1 → XP_047294657.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X1

    5. XM_006723168.4 → XP_006723231.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X5

      See identical proteins and their annotated locations for XP_006723231.1

      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9
      Conserved Domains (1) summary
      cd11502
      Location:103 → 673
      SLC6sbd_NTT5; Neurotransmitter transporter 5; solute-binding domain

    6. XM_047438704.1 → XP_047294660.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X6

    7. XM_011526859.4 → XP_011525161.3  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X2

    8. XM_024451472.2 → XP_024307240.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X5

      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9
      Conserved Domains (1) summary
      cd11502
      Location:103 → 673
      SLC6sbd_NTT5; Neurotransmitter transporter 5; solute-binding domain

    9. XM_005258820.4 → XP_005258877.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X5

      See identical proteins and their annotated locations for XP_005258877.1

      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9
      Conserved Domains (1) summary
      cd11502
      Location:103 → 673
      SLC6sbd_NTT5; Neurotransmitter transporter 5; solute-binding domain

    10. XM_011526861.4 → XP_011525163.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X6

      Conserved Domains (1) summary
      cd11502
      Location:1 → 526
      SLC6sbd_NTT5; Neurotransmitter transporter 5; solute-binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52287044..52337761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320738.1 → XP_054176713.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X3

    2. XM_054320739.1 → XP_054176714.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X4

    3. XM_054320741.1 → XP_054176716.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X5

      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9

    4. XM_054320744.1 → XP_054176719.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X6

    5. XM_054320737.1 → XP_054176712.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X2

    6. XM_054320742.1 → XP_054176717.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X5

      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9

    7. XM_054320740.1 → XP_054176715.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X5

      UniProtKB/Swiss-Prot
      Q8IYV4, Q9GZN6, Q9Y5I9

    8. XM_054320743.1 → XP_054176718.1  orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZN6.1 GenPept UniProtKB/Swiss-Prot:Q9GZN6

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