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    SLCO6A1 solute carrier organic anion transporter family member 6A1 [ Homo sapiens (human) ]

    Gene ID: 133482, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLCO6A1provided by HGNC
    Official Full Name
    solute carrier organic anion transporter family member 6A1provided by HGNC
    Primary source
    HGNC:HGNC:23613
    See related
    Ensembl:ENSG00000205359 MIM:613365; AllianceGenome:HGNC:23613
    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
    GST; CT48; OATPY; OATP-I; OATP6A1
    Summary
    Predicted to enable sodium-independent organic anion transmembrane transporter activity. Predicted to be involved in sodium-independent organic anion transport. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in basolateral plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 7.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLCO6A1 in Genome Data Viewer
    Location:
    5q21.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (102371774..102499001, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (102879844..103007066, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (101707478..101834705, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 4C1 Neighboring gene MPRA-validated peak5379 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22853 Neighboring gene RN7SK pseudogene 68 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:101834092-101834592 Neighboring gene uncharacterized LOC124901035 Neighboring gene uncharacterized LOC124901036

    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. Analysis of association between common variants in the SLCO6A1 gene with schizophrenia, bipolar disorder and major depressive disorder in the Han Chinese population. Khan RA, et al. World J Biol Psychiatry, 2016. PMID 26861727
    2. 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
    3. Genetic polymorphisms in Thai neonates with hyperbilirubinemia. Prachukthum S, et al. Acta Paediatr, 2009 Jul. PMID 19397531
    4. Identification and characterization of novel rat and human gonad-specific organic anion transporters. Suzuki T, et al. Mol Endocrinol, 2003 Jul. PMID 12677006
    5. Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. Zhang C, et al. Neurobiol Aging, 2014 Jun. PMID 24468470

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. No association of gene SLCO6A1 rs6878284 with schizophrenia; rs7734060 could be a risk locus for major depressive disorder in the Han Chinese population
      Title: Analysis of association between common variants in the SLCO6A1 gene with schizophrenia, bipolar disorder and major depressive disorder in the Han Chinese population.
    2. High OATP6A1 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. 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.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic polymorphisms in Thai neonates with hyperbilirubinemia.
    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
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Common variants conferring risk of schizophrenia.
    EBI GWAS Catalog
    Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    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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    Homology

    Clone Names

    • MGC26949

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    solute carrier organic anion transporter family member 6A1
    Names
    cancer/testis antigen 48
    gonad-specific transporter
    organic anion-transporting polypeptide I
    solute carrier family 21 member 19
    testicular tissue protein Li 174
    testis-specific organic anion 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_001289002.2 → NP_001275931.1  solute carrier organic anion transporter family member 6A1 isoform 1

      See identical proteins and their annotated locations for NP_001275931.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AC113417, AY273897, BG772379, DB513513, HY036202
      Consensus CDS
      CCDS34206.1
      UniProtKB/Swiss-Prot
      A6NHC1, Q6ZMY5, Q86UG4, Q86UV2, Q8IYU5
      UniProtKB/TrEMBL
      A0A140VJU7
      Related
      ENSP00000369135.3, ENST00000379807.7
      Conserved Domains (3) summary
      cd06174
      Location:109 → 330
      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:498 → 551
      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:107 → 665
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    2. NM_001289004.2 → NP_001275933.1  solute carrier organic anion transporter family member 6A1 isoform 2

      See identical proteins and their annotated locations for NP_001275933.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC113417, BC034976, BM554439, DB513513, HY200806
      Consensus CDS
      CCDS75282.1
      UniProtKB/Swiss-Prot
      Q86UG4
      Related
      ENSP00000373671.3, ENST00000389019.7
      Conserved Domains (1) summary
      pfam03137
      Location:107 → 603
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    3. NM_001308014.2 → NP_001294943.1  solute carrier organic anion transporter family member 6A1 isoform 3

      See identical proteins and their annotated locations for NP_001294943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks five internal exons that result in the loss of two in-frame segments in the coding region, and it also uses an alternate splice site in the 3' UTR, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC113417, AK131445, BC034976, DB513513
      Consensus CDS
      CCDS78042.1
      UniProtKB/TrEMBL
      C9J020
      Related
      ENSP00000421990.1, ENST00000513675.1
      Conserved Domains (2) summary
      cd01330
      Location:245 → 298
      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:107 → 412
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    4. NM_173488.5 → NP_775759.3  solute carrier organic anion transporter family member 6A1 isoform 1

      See identical proteins and their annotated locations for NP_775759.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AC113417, AF505657, BM554439, DB513513, HY036202, HY200806
      Consensus CDS
      CCDS34206.1
      UniProtKB/Swiss-Prot
      A6NHC1, Q6ZMY5, Q86UG4, Q86UV2, Q8IYU5
      UniProtKB/TrEMBL
      A0A140VJU7
      Related
      ENSP00000421339.1, ENST00000506729.6
      Conserved Domains (3) summary
      cd06174
      Location:109 → 330
      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:498 → 551
      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:107 → 665
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      102371774..102499001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543148.3 → XP_011541450.1  solute carrier organic anion transporter family member 6A1 isoform X4

      Conserved Domains (3) summary
      cd01330
      Location:419 → 472
      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:107 → 586
      OATP; Organic Anion Transporter Polypeptide (OATP) family
      cl21472
      Location:159 → 251
      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 ...

    2. XM_011543147.3 → XP_011541449.1  solute carrier organic anion transporter family member 6A1 isoform X2

      Conserved Domains (3) summary
      cd06174
      Location:109 → 295
      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:463 → 516
      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:107 → 630
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    3. XM_047416703.1 → XP_047272659.1  solute carrier organic anion transporter family member 6A1 isoform X3

    4. XM_011543150.2 → XP_011541452.1  solute carrier organic anion transporter family member 6A1 isoform X5

      Conserved Domains (2) summary
      cd01330
      Location:255 → 308
      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:1 → 422
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    5. XM_005271874.4 → XP_005271931.1  solute carrier organic anion transporter family member 6A1 isoform X1

      See identical proteins and their annotated locations for XP_005271931.1

      UniProtKB/Swiss-Prot
      A6NHC1, Q6ZMY5, Q86UG4, Q86UV2, Q8IYU5
      UniProtKB/TrEMBL
      A0A140VJU7
      Conserved Domains (3) summary
      cd06174
      Location:109 → 330
      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:498 → 551
      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:107 → 665
      OATP; Organic Anion Transporter Polypeptide (OATP) family

    6. XM_011543154.4 → XP_011541456.1  solute carrier organic anion transporter family member 6A1 isoform X6

      Conserved Domains (1) summary
      cd06174
      Location:109 → 330
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      102879844..103007066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351580.1 → XP_054207555.1  solute carrier organic anion transporter family member 6A1 isoform X4

    2. XM_054351578.1 → XP_054207553.1  solute carrier organic anion transporter family member 6A1 isoform X2

    3. XM_054351579.1 → XP_054207554.1  solute carrier organic anion transporter family member 6A1 isoform X3

    4. XM_054351581.1 → XP_054207556.1  solute carrier organic anion transporter family member 6A1 isoform X5

    5. XM_054351577.1 → XP_054207552.1  solute carrier organic anion transporter family member 6A1 isoform X1

    6. XM_054351582.1 → XP_054207557.1  solute carrier organic anion transporter family member 6A1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UG4.2 GenPept UniProtKB/Swiss-Prot:Q86UG4

    Gene LinkOut

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