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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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 EBI GWAS CatalogPubMed
Common variants conferring risk of schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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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)

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
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
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
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

102371774..102499001 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060929.1 Alternate T2T-CHM13v2.0

Range

102879844..103007066 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054351580.1 → XP_054207555.1 solute carrier organic anion transporter family member 6A1 isoform X4
XM_054351578.1 → XP_054207553.1 solute carrier organic anion transporter family member 6A1 isoform X2
XM_054351579.1 → XP_054207554.1 solute carrier organic anion transporter family member 6A1 isoform X3
XM_054351581.1 → XP_054207556.1 solute carrier organic anion transporter family member 6A1 isoform X5
XM_054351577.1 → XP_054207552.1 solute carrier organic anion transporter family member 6A1 isoform X1
XM_054351582.1 → XP_054207557.1 solute carrier organic anion transporter family member 6A1 isoform X6