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    SLC18B1 solute carrier family 18 member B1 [ Homo sapiens (human) ]

    Gene ID: 116843, updated on 26-Nov-2024

    Summary

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    Official Symbol
    SLC18B1provided by HGNC
    Official Full Name
    solute carrier family 18 member B1provided by HGNC
    Primary source
    HGNC:HGNC:21573
    See related
    Ensembl:ENSG00000146409 MIM:613361; AllianceGenome:HGNC:21573
    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
    VPAT; C6orf192; dJ55C23.6
    Summary
    This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 13.1), duodenum (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC18B1 in Genome Data Viewer
    Location:
    6q23.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (132769370..132798637, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (133964359..133993657, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (133090509..133119776, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:133069914-133071113 Neighboring gene vanin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25075 Neighboring gene RNA binding motif protein 11 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:133118062-133118562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17553 Neighboring gene uncharacterized LOC107986644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25076 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:133134673-133135419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25078 Neighboring gene small nucleolar RNA, C/D box 101 Neighboring gene ribosomal protein S12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of a mammalian vesicular polyamine transporter. Hiasa M, et al. Sci Rep, 2014 Oct 30. PMID 25355561, Free PMC Article
    2. C6ORF192 forms a unique evolutionary branch among solute carriers (SLC16, SLC17, and SLC18) and is abundantly expressed in several brain regions. Jacobsson JA, et al. J Mol Neurosci, 2010 Jun. PMID 19697161
    3. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. Fu GK, et al. Genomics, 2004 Jul. PMID 15203218
    4. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    5. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483

    See all (9) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monoamine:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables polyamine:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in polyamine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in serotonin uptake IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermidine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in secretory granule membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    MFS-type transporter SLC18B1
    Names
    MFS-type transporter C6orf192
    solute carrier family 18, subfamily B, member 1
    vesicular polyamine transporter

    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_052831.3 → NP_439896.1  MFS-type transporter SLC18B1

      See identical proteins and their annotated locations for NP_439896.1

      Status: VALIDATED

      Source sequence(s)
      AK124442, AL137783, BC069570, CB218467, CD635228
      Consensus CDS
      CCDS5163.1
      UniProtKB/Swiss-Prot
      A8K1K3, B3KW77, Q6ISF2, Q6NT16
      UniProtKB/TrEMBL
      A0A3B3IU67
      Related
      ENSP00000275227.4, ENST00000275227.9
      Conserved Domains (2) summary
      cd06174
      Location:37 → 426
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:41 → 392
      MFS_1; Major Facilitator Superfamily

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      132769370..132798637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418165.1 → XP_047274121.1  MFS-type transporter SLC18B1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT67
      Related
      ENSP00000497768.1, ENST00000647932.1

    2. XM_047418166.1 → XP_047274122.1  MFS-type transporter SLC18B1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      133964359..133993657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354192.1 → XP_054210167.1  MFS-type transporter SLC18B1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT67

    2. XM_054354193.1 → XP_054210168.1  MFS-type transporter SLC18B1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NT16.1 GenPept UniProtKB/Swiss-Prot:Q6NT16

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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