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

Gene ID: 8273, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154487311..154490629, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152723820..152727138, complement)
105.20220307 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
  • 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. CpG islands of the X chromosome are gene associated. Alcalay M, et al. Nucleic Acids Res, 1988 Oct 25. PMID 3186440, Free PMC Article
  2. 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
  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 (17) 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)

Genotypes

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_2023_10

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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