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    SLCO5A1 solute carrier organic anion transporter family member 5A1 [ Homo sapiens (human) ]

    Gene ID: 81796, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLCO5A1provided by HGNC
    Official Full Name
    solute carrier organic anion transporter family member 5A1provided by HGNC
    Primary source
    HGNC:HGNC:19046
    See related
    Ensembl:ENSG00000137571 MIM:613543; AllianceGenome:HGNC:19046
    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
    OATPJ; OATP-J; OATP5A1; OATPRP4; OATP-RP4; SLC21A15
    Summary
    Predicted to enable sodium-independent organic anion transmembrane transporter activity. Predicted to be involved in sodium-independent organic anion transport. Located in intracellular membrane-bounded organelle and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 68.6), ovary (RPKM 66.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLCO5A1 in Genome Data Viewer
    Location:
    8q13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (69667046..69834978, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (70096700..70264566, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (70579281..70747213, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1603 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:70378771-70379311 Neighboring gene sulfatase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr8:70451186-70451687 Neighboring gene MPRA-validated peak7064 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:70556317-70556868 Neighboring gene Sharpr-MPRA regulatory region 11728/13723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:70623385-70623885 Neighboring gene uncharacterized LOC105375889 Neighboring gene RN7SK pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19263 Neighboring gene Sharpr-MPRA regulatory region 147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27501 Neighboring gene TMX1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19265 Neighboring gene SLCO5A1 antisense RNA 1 Neighboring gene BAG cochaperone 4 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 675, pseudogene

    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. Characterization of SLCO5A1/OATP5A1, a solute carrier transport protein with non-classical function. Sebastian K, et al. PLoS One, 2013. PMID 24376674, Free PMC Article
    2. Differential Associations of SLCO Transporters with Prostate Cancer Aggressiveness between African Americans and European Americans. Tang L, et al. Cancer Epidemiol Biomarkers Prev, 2021 May. PMID 33619025, Free PMC Article
    3. Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Isidor B, et al. Am J Hum Genet, 2010 Jul 9. PMID 20602915, Free PMC Article
    4. The superfamily of organic anion transporting polypeptides. Hagenbuch B, et al. Biochim Biophys Acta, 2003 Jan 10. PMID 12507753
    5. Specific expression of OATPs in primary small cell lung cancer (SCLC) cells as novel biomarkers for diagnosis and therapy. Brenner S, et al. Cancer Lett, 2015 Jan 28. PMID 25301452

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential Associations of SLCO Transporters with Prostate Cancer Aggressiveness between African Americans and European Americans.
      Title: Differential Associations of SLCO Transporters with Prostate Cancer Aggressiveness between African Americans and European Americans.
    2. High OATP5A1 expression is associated with small cell lung cancer.
      Title: Specific expression of OATPs in primary small cell lung cancer (SCLC) cells as novel biomarkers for diagnosis and therapy.
    3. SLCO5A1 is an organic anion transporting polypeptide which is involved in biological processes that require the reorganization of the cell shape, such as differentiation and migration.
      Title: Characterization of SLCO5A1/OATP5A1, a solute carrier transport protein with non-classical function.
    4. tissue-specific localization of OATP2B1, OATP3A1 and OATP5A1 has been analyzed in normal mammary tissue and corresponding breast cancer tissues.
      Title: Expression and localization of the uptake transporters OATP2B1, OATP3A1 and OATP5A1 in non-malignant and malignant breast tissue.
    5. Haploinsufficiency of SULF1 combined with haploinsufficiency of SLCO5A1 (or the altered expression of a neighboring gene through position effect) could be necessary in the pathogenesis of MSS.
      Title: Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ39560

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sodium-independent organic anion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in sodium-independent organic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    solute carrier organic anion transporter family member 5A1
    Names
    organic anion transporter polypeptide-related protein 4
    solute carrier family 21 (organic anion transporter), member 15
    solute carrier family 21 member 15

    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_001146008.2 → NP_001139480.1  solute carrier organic anion transporter family member 5A1 isoform 2

      See identical proteins and their annotated locations for NP_001139480.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC079089, AC091047, AF205075, AK022760, CA449383
      Consensus CDS
      CCDS55243.1
      UniProtKB/Swiss-Prot
      Q9H2Y9
      Related
      ENSP00000434422.1, ENST00000524945.5
      Conserved Domains (3) summary
      cd06174
      Location:131 → 531
      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 ...
      cd01330
      Location:551 → 605
      KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
      pfam03137
      Location:129 → 674
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    2. NM_001146009.1 → NP_001139481.1  solute carrier organic anion transporter family member 5A1 isoform 3

      See identical proteins and their annotated locations for NP_001139481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AC079089, AC091047, AF205075, BC139755, CA449383
      Consensus CDS
      CCDS55242.1
      UniProtKB/Swiss-Prot
      Q9H2Y9
      Related
      ENSP00000431611.1, ENST00000530307.1
      Conserved Domains (1) summary
      cd17404
      Location:128 → 620
      MFS_SLCO5_OATP5; Solute carrier organic anion transporter 5 family of the Major Facilitator Superfamily of transporters

    3. NM_030958.3 → NP_112220.2  solute carrier organic anion transporter family member 5A1 isoform 1

      See identical proteins and their annotated locations for NP_112220.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC091047, AK096879, BC137424, CA449383
      Consensus CDS
      CCDS6205.1
      UniProtKB/Swiss-Prot
      A4QPC2, B2RPF7, B3KMU7, E9PKK5, G3V1C0, Q9H2Y9
      Related
      ENSP00000260126.3, ENST00000260126.9
      Conserved Domains (3) summary
      cd06174
      Location:131 → 531
      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 ...
      cd01330
      Location:551 → 605
      KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
      pfam03137
      Location:129 → 734
      OATP; Organic Anion Transporter Polypeptide (OATP) 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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      69667046..69834978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      70096700..70264566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2Y9.2 GenPept UniProtKB/Swiss-Prot:Q9H2Y9

    Gene LinkOut

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

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