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    SLC20A1 solute carrier family 20 member 1 [ Homo sapiens (human) ]

    Gene ID: 6574, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC20A1provided by HGNC
    Official Full Name
    solute carrier family 20 member 1provided by HGNC
    Primary source
    HGNC:HGNC:10946
    See related
    Ensembl:ENSG00000144136 MIM:137570; AllianceGenome:HGNC:10946
    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
    PIT1; GLVR1; PiT-1; Glvr-1
    Summary
    The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.0), colon (RPKM 14.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC20A1 in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112645939..112663825)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113072544..113090428)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113403516..113421402)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985934 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:113398010-113399209 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:113399339-113400538 Neighboring gene SLC20A1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11875 Neighboring gene Sharpr-MPRA regulatory region 7980 Neighboring gene uncharacterized LOC102724955 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:113448691-113448877 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:113449610-113450809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113451927-113452426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113483672-113484391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113484392-113485110 Neighboring gene 5'-nucleotidase domain containing 4 Neighboring gene cytoskeleton associated protein 2 like

    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. Phosphate regulation of vascular smooth muscle cell calcification. Jono S, et al. Circ Res, 2000 Sep 29. PMID 11009570
    2. Impact of SLC20A1 on the Wnt/β‑catenin signaling pathway in somatotroph adenomas. Li J, et al. Mol Med Rep, 2019 Oct. PMID 31432167, Free PMC Article
    3. Association between SLC20A1 and sodium-lithium countertransport. Zheng X, et al. Am J Hypertens, 2011 Oct. PMID 21796222
    4. Characterization of the human Glvr-1 phosphate transporter/retrovirus receptor gene and promoter region. Palmer G, et al. Gene, 1999 Jan 8. PMID 9889306
    5. High expression of the Pi-transporter SLC20A1/Pit1 in calcific aortic valve disease promotes mineralization through regulation of Akt-1. El Husseini D, et al. PLoS One, 2013. PMID 23308213, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Spitz Melanoma With SLC20A1::ALK Fusion: A Novel Fusion Previously Undescribed in Spitz Melanocytic Neoplasm.
      Title: Spitz Melanoma With SLC20A1::ALK Fusion: A Novel Fusion Previously Undescribed in Spitz Melanocytic Neoplasm.
    2. Pit 1 transporter (SLC20A1) as a key factor in the NPP1-mediated inhibition of insulin signaling in human podocytes.
      Title: Pit 1 transporter (SLC20A1) as a key factor in the NPP1-mediated inhibition of insulin signaling in human podocytes.
    3. Cellular abundance of sodium phosphate cotransporter SLC20A1/PiT1 and phosphate uptake are controlled post-transcriptionally by ESCRT.
      Title: Cellular abundance of sodium phosphate cotransporter SLC20A1/PiT1 and phosphate uptake are controlled post-transcriptionally by ESCRT.
    4. Long Noncoding RNA SLC20A1-1 Induces Nucleus Pulposus Apoptosis by Sponging miR-146a-5p.
      Title: Long Noncoding RNA SLC20A1-1 Induces Nucleus Pulposus Apoptosis by Sponging miR-146a-5p.
    5. Genome-wide methylation association with current suicidal ideation in schizophrenia.
      Title: Genome-wide methylation association with current suicidal ideation in schizophrenia.
    6. The present data suggested that SLC20A1 levels are positively associated with tumor size, invasive behavior and tumor recurrence in somatotroph adenomas. Furthermore, SLC20A1 may be associated with the activation of the Wnt/betacatenin signaling pathway.
      Title: Impact of SLC20A1 on the Wnt/β‑catenin signaling pathway in somatotroph adenomas.
    7. Targeted sequencing of two candidate genes, SLC20A1 and SLC15A4, of the solute carrier membrane transport protein family in 200 additional patients demonstrated two further variants predicted as damaging for combined hormone deficiency.
      Title: Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
    8. Overexpression of SLC20A1 is associated with Estrogen Receptor-positive Breast Cancer.
      Title: Expression Levels of KMT2C and SLC20A1 Identified by Information-theoretical Analysis Are Powerful Prognostic Biomarkers in Estrogen Receptor-positive Breast Cancer.
    9. indoxyl sulfate promotes Pit-1 expression in part by activation of the JNK pathway in vascular smooth muscle cells
      Title: Indoxyl sulfate promotes vascular smooth muscle cell calcification via the JNK/Pit-1 pathway.
    10. Ox-LDL induces an osteogenic change in human aortic valve interstitial cells marked by the induction of PiT-1.
      Title: ox-LDL induces PiT-1 expression in human aortic valve interstitial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC20A1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41426, DKFZp686J2397

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables high-affinity phosphate:sodium symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables sodium:phosphate symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sodium:phosphate symporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphate ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphate-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sodium-dependent phosphate transporter 1
    Names
    gibbon ape leukemia virus receptor 1
    leukemia virus receptor 1 homolog
    solute carrier family 20 (phosphate transporter), member 1

    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_028281.1 RefSeqGene

      Range
      5083..22969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005415.5 → NP_005406.3  sodium-dependent phosphate transporter 1

      See identical proteins and their annotated locations for NP_005406.3

      Status: REVIEWED

      Source sequence(s)
      AC079922, AK312738, BC075818, DB086768
      Consensus CDS
      CCDS2099.1
      UniProtKB/Swiss-Prot
      Q08344, Q6DHX8, Q8WUM9, Q9UQ82
      UniProtKB/TrEMBL
      A7LNJ1
      Related
      ENSP00000272542.3, ENST00000272542.8
      Conserved Domains (2) summary
      COG0306
      Location:22 → 240
      PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
      pfam01384
      Location:519 → 665
      PHO4; Phosphate transporter family

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      112645939..112663825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      113072544..113090428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUM9.1 GenPept UniProtKB/Swiss-Prot:Q8WUM9

    Gene LinkOut

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

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