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    SLC10A3 solute carrier family 10 member 3 [ Homo sapiens (human) ]

    Gene ID: 8273, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC10A3provided by HGNC
    Official Full Name
    solute carrier family 10 member 3provided by HGNC
    Primary source
    HGNC:HGNC:22979
    See related
    Ensembl:ENSG00000126903 MIM:312090; AllianceGenome:HGNC:22979
    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
    P3; DXS253E
    Summary
    This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 8.9), ovary (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC10A3 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154487311..154490629, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152723820..152727138, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153715650..153718968, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene plexin A3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21109 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153707495-153707994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30063 Neighboring gene L antigen family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153713643-153714401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153714402-153715160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30064 Neighboring gene ubiquitin like 4A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21112 Neighboring gene RNA, 7SL, cytoplasmic 697, pseudogene Neighboring gene FAM3 metabolism regulating signaling molecule A Neighboring gene uncharacterized LOC124905229 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153743824-153744447 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153744448-153745070

    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 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. Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage. Faust CJ, et al. Genomics, 1992 Aug. PMID 1354645
    2. CpG islands of the X chromosome are gene associated. Alcalay M, et al. Nucleic Acids Res, 1988 Oct 25. PMID 3186440, Free PMC Article
    3. The solute carrier family SLC10: more than a family of bile acid transporters regarding function and phylogenetic relationships. Geyer J, et al. Naunyn Schmiedebergs Arch Pharmacol, 2006 Mar. PMID 16541252
    4. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Chen EY, et al. Hum Mol Genet, 1996 May. PMID 8733135
    5. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Denoeud F, et al. Genome Res, 2007 Jun. PMID 17567994, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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 bile acid:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    P3 protein
    Names
    Protein P3
    solute carrier family 10 (sodium/bile acid cotransporter family), member 3

    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_013261.2 RefSeqGene

      Range
      5024..8342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142391.3 → NP_001135863.1  P3 protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_001135863.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and is alternatively spliced in the 5' coding region compared to variant 1. The resulting isoform (2) is shorter missing an in-frame protein segment of 29 amino acids compared to isoform 1.
      Source sequence(s)
      BC004966, BM981524, HY035183
      Consensus CDS
      CCDS48195.1
      UniProtKB/Swiss-Prot
      P09131
      Related
      ENSP00000358663.4, ENST00000369649.8
      Conserved Domains (1) summary
      TIGR00841
      Location:172 → 445
      bass; bile acid transporter

    2. NM_001142392.3 → NP_001135864.1  P3 protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001135864.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      BC004966, BM981524, BP281642, BX401493, HY035183
      Consensus CDS
      CCDS14755.1
      UniProtKB/Swiss-Prot
      P09131, Q5HY79, Q9BSL2
      Related
      ENSP00000377212.4, ENST00000393587.4
      Conserved Domains (1) summary
      TIGR00841
      Location:201 → 474
      bass; bile acid transporter

    3. NM_019848.5 → NP_062822.1  P3 protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_062822.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      BC004966, BG327309, BM981524, BX401493
      Consensus CDS
      CCDS14755.1
      UniProtKB/Swiss-Prot
      P09131, Q5HY79, Q9BSL2
      Related
      ENSP00000499188.1, ENST00000651600.1
      Conserved Domains (1) summary
      TIGR00841
      Location:201 → 474
      bass; bile acid transporter

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154487311..154490629 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531201.3 → XP_011529503.1  P3 protein isoform X6

      See identical proteins and their annotated locations for XP_011529503.1

      UniProtKB/Swiss-Prot
      P09131, Q5HY79, Q9BSL2
      Conserved Domains (1) summary
      TIGR00841
      Location:201 → 474
      bass; bile acid transporter

    2. XM_047442559.1 → XP_047298515.1  P3 protein isoform X5

    3. XM_047442557.1 → XP_047298513.1  P3 protein isoform X3

      UniProtKB/TrEMBL
      A0A0A0MS43
      Related
      ENSP00000377211.1, ENST00000393586.1
      Conserved Domains (1) summary
      cl19217
      Location:256 → 529
      SBF; Sodium Bile acid symporter family

    4. XM_047442558.1 → XP_047298514.1  P3 protein isoform X5

    5. XM_011531200.4 → XP_011529502.2  P3 protein isoform X3

      UniProtKB/TrEMBL
      A0A0A0MS43
      Conserved Domains (1) summary
      cl19217
      Location:256 → 529
      SBF; Sodium Bile acid symporter family

    6. XM_006724848.4 → XP_006724911.1  P3 protein isoform X2

      Conserved Domains (1) summary
      TIGR00841
      Location:265 → 538
      bass; bile acid transporter

    7. XM_006724847.4 → XP_006724910.1  P3 protein isoform X1

      Conserved Domains (1) summary
      TIGR00841
      Location:294 → 567
      bass; bile acid transporter

    8. XM_005277913.6 → XP_005277970.1  P3 protein isoform X4

      UniProtKB/TrEMBL
      A0A0A0MS43
      Conserved Domains (1) summary
      cl19217
      Location:256 → 529
      SBF; Sodium Bile acid symporter family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152723820..152727138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327950.1 → XP_054183925.1  P3 protein isoform X6

      UniProtKB/Swiss-Prot
      P09131, Q5HY79, Q9BSL2

    2. XM_054327949.1 → XP_054183924.1  P3 protein isoform X5

    3. XM_054327947.1 → XP_054183922.1  P3 protein isoform X3

      UniProtKB/TrEMBL
      A0A0A0MS43

    4. XM_054327946.1 → XP_054183921.1  P3 protein isoform X2

    5. XM_054327945.1 → XP_054183920.1  P3 protein isoform X1

    6. XM_054327948.1 → XP_054183923.1  P3 protein isoform X4

      UniProtKB/TrEMBL
      A0A0A0MS43
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09131.1 GenPept UniProtKB/Swiss-Prot:P09131

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