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

Gene ID: 133482, updated on 2-Nov-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, Nov 2024]
Expression
Restricted expression toward testis (RPKM 7.9) See more
Orthologs
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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 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

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