SLCO4C1 solute carrier organic anion transporter family member 4C1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLCO4C1provided by HGNC
Official Full Name: solute carrier organic anion transporter family member 4C1provided by HGNC
Primary source: HGNC:HGNC:23612
See related: Ensembl:ENSG00000173930 MIM:609013; AllianceGenome:HGNC:23612
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: OATPX; OATP-H; OATP-M1; OATP4C1; PRO2176; SLC21A20
Summary: SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in kidney (RPKM 21.4), lung (RPKM 4.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q21.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (102233986..102296284, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (102742066..102804356, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (101569690..101631988, 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

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of OATP4C1 in Renal Handling of Remdesivir and its Nucleoside Analog GS-441524: The First Approved Drug for Patients with COVID-19.
Title: Role of OATP4C1 in Renal Handling of Remdesivir and its Nucleoside Analog GS-441524: The First Approved Drug for Patients with COVID-19.
Knockdown of SLCO4C1 inhibits cell proliferation and metastasis in endometrial cancer through inactivating the PI3K/Akt signaling pathway.
Title: Knockdown of SLCO4C1 inhibits cell proliferation and metastasis in endometrial cancer through inactivating the PI3K/Akt signaling pathway.
SLCO4C1 promoter methylation, including that at three CpG sites, namely, cg06480736, cg19774478 and cg22149516, is a potential biomarker for risk stratification and might offer significantly relevant prognostic information for prostate cancer patients after radical prostatectomy.
Title: SLCO4C1 promoter methylation is a potential biomarker for prognosis associated with biochemical recurrence-free survival after radical prostatectomy.
single-nucleotide polymorphisms and haplotypes in SLCO4C1 in blacks are significantly associated with preeclampsia.
Title: Genetic variation in solute carrier genes is associated with preeclampsia.
In conclusion, we found that estrone 3-sulfate is a novel substrate for OATP4C1. Moreover, our results indicate that estrone 3-sulfate does not bind to the recognition site for digoxin in OATP4C1.
Title: Transport of estrone 3-sulfate mediated by organic anion transporter OATP4C1: estrone 3-sulfate binds to the different recognition site for digoxin in OATP4C1.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
overexpression of human kidney-specific organic anion transporter SLCO4C1 in rat kidney reduced hypertension, cardiomegaly, and inflammation in the setting of renal failure
Title: SLCO4C1 transporter eliminates uremic toxins and attenuates hypertension and renal inflammation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
isolation, cloning, and activity in the transport pathway of digoxin in the kidney
Title: Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney.

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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)

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 organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium-independent organic anion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium-independent organic anion transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in sodium-independent organic anion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium-independent organic anion transport	TAS Traceable Author Statement more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule membrane	TAS Traceable Author Statement more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: solute carrier organic anion transporter family member 4C1

Names: organic anion transporter M1; organic anion transporting polypeptide 4C1; solute carrier family 21 member 20

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_180991.5 → NP_851322.3 solute carrier organic anion transporter family member 4C1

See identical proteins and their annotated locations for NP_851322.3

Status: VALIDATED

Source sequence(s)

AK128854, AY273896, BX647349, BX647577

Consensus CDS

CCDS34205.1

UniProtKB/Swiss-Prot

Q6ZQN7, Q86UG5

Related

ENSP00000309741.6, ENST00000310954.7

Conserved Domains (1) summary

cd17463
Location:104 → 604

MFS_SLCO4C_OATP4C; Solute carrier organic anion transporter 4C subfamily of the Major Facilitator Superfamily of transporters

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

102233986..102296284 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543370.3 → XP_011541672.1 solute carrier organic anion transporter family member 4C1 isoform X1

Conserved Domains (3) summary

cd06174
Location:158 → 397

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:411 → 461

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:156 → 576

OATP; Organic Anion Transporter Polypeptide (OATP) family
XM_047417146.1 → XP_047273102.1 solute carrier organic anion transporter family member 4C1 isoform X2
XM_011543372.2 → XP_011541674.1 solute carrier organic anion transporter family member 4C1 isoform X2

Conserved Domains (2) summary

cd01330
Location:361 → 411

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 → 526

OATP; Organic Anion Transporter Polypeptide (OATP) family

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

102742066..102804356 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352514.1 → XP_054208489.1 solute carrier organic anion transporter family member 4C1 isoform X1
XM_054352516.1 → XP_054208491.1 solute carrier organic anion transporter family member 4C1 isoform X2
XM_054352517.1 → XP_054208492.1 solute carrier organic anion transporter family member 4C1 isoform X2
XM_054352515.1 → XP_054208490.1 solute carrier organic anion transporter family member 4C1 isoform X2