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Aliases for SLCO4C1 Gene

Aliases for SLCO4C1 Gene

  • Solute Carrier Organic Anion Transporter Family Member 4C1 2 3 5
  • Solute Carrier Family 21 Member 20 3 4
  • Organic Anion Transporter M1 3 4
  • SLC21A20 3 4
  • OATP-M1 3 4
  • OATP4C1 3 4
  • OATP-H 3 4
  • OATPX 3 4
  • Solute Carrier Organic Anion Transporter Family, Member 4C1 2
  • PRO2176 3

External Ids for SLCO4C1 Gene

Previous GeneCards Identifiers for SLCO4C1 Gene

  • GC05M101647
  • GC05M101645
  • GC05M101597
  • GC05M096752

Summaries for SLCO4C1 Gene

Entrez Gene Summary for SLCO4C1 Gene

  • 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]

GeneCards Summary for SLCO4C1 Gene

SLCO4C1 (Solute Carrier Organic Anion Transporter Family Member 4C1) is a Protein Coding gene. Diseases associated with SLCO4C1 include Eastern Equine Encephalitis. Among its related pathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is SLCO4A1.

UniProtKB/Swiss-Prot for SLCO4C1 Gene

  • Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells. This ion-transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation. May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg.

Additional gene information for SLCO4C1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLCO4C1 Gene

Genomics for SLCO4C1 Gene

GeneHancer (GH) Regulatory Elements for SLCO4C1 Gene

Promoters and enhancers for SLCO4C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I102295 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.3 +0.3 326 2.5 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 NFYC MXD4 KAT8 SREBF1 SLCO4C1 PAM SLCO6A1 GC05P102158
GH05I102523 Enhancer 0.5 Ensembl 6 -227.1 -227052 0.4 MAFG DPF2 ZNF24 RUNX3 SPI1 SLCO6A1 ENSG00000249017 SLCO4C1 LINC00492
GH05I102294 Enhancer 0.2 Ensembl 7.4 +2.2 2248 0.2 SLCO4C1 GC05P102158
GH05I102277 Enhancer 0.3 Ensembl 4.4 +19.2 19198 0.7 EZH2 SLCO4C1 GC05P102158
GH05I102286 Enhancer 0.2 Ensembl 5.1 +9.9 9948 0.8 PAM SLCO4C1 GC05P102158
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLCO4C1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLCO4C1 gene promoter:

Genomic Locations for SLCO4C1 Gene

Genomic Locations for SLCO4C1 Gene
chr5:102,233,986-102,296,549
(GRCh38/hg38)
Size:
62,564 bases
Orientation:
Minus strand
chr5:101,569,690-101,632,253
(GRCh37/hg19)

Genomic View for SLCO4C1 Gene

Genes around SLCO4C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLCO4C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLCO4C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLCO4C1 Gene

Proteins for SLCO4C1 Gene

  • Protein details for SLCO4C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZQN7-SO4C1_HUMAN
    Recommended name:
    Solute carrier organic anion transporter family member 4C1
    Protein Accession:
    Q6ZQN7
    Secondary Accessions:
    • Q86UG5

    Protein attributes for SLCO4C1 Gene

    Size:
    724 amino acids
    Molecular mass:
    78948 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • SLCO4C1-mediated digoxin uptake is inhibited by digoxin itself and related compounds such as ouabain, digitoxin and digoxigenin.

neXtProt entry for SLCO4C1 Gene

Post-translational modifications for SLCO4C1 Gene

  • Glycosylation at posLast=557557
  • Modification sites at PhosphoSitePlus

Other Protein References for SLCO4C1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLCO4C1 Gene

Domains & Families for SLCO4C1 Gene

Gene Families for SLCO4C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLCO4C1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZQN7

UniProtKB/Swiss-Prot:

SO4C1_HUMAN :
  • Belongs to the organo anion transporter (TC 2.A.60) family.
Family:
  • Belongs to the organo anion transporter (TC 2.A.60) family.
genes like me logo Genes that share domains with SLCO4C1: view

Function for SLCO4C1 Gene

Molecular function for SLCO4C1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.8 uM for digoxin {ECO:0000269 PubMed:14993604}; KM=0.38 uM for ouabain {ECO:0000269 PubMed:14993604}; KM=5.9 uM for thyroxine {ECO:0000269 PubMed:14993604};
UniProtKB/Swiss-Prot Function:
Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells. This ion-transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation. May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg.

Phenotypes From GWAS Catalog for SLCO4C1 Gene

Gene Ontology (GO) - Molecular Function for SLCO4C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015347 sodium-independent organic anion transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLCO4C1: view
genes like me logo Genes that share phenotypes with SLCO4C1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLCO4C1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLCO4C1 Gene

Localization for SLCO4C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLCO4C1 Gene

Basolateral cell membrane; Multi-pass membrane protein. Note=Detected at the basolateral membrane of the proximal tubule cell in the kidney. {ECO:0000250 UniProtKB:Q71MB6}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLCO4C1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLCO4C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLCO4C1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLCO4C1 Gene

Pathways & Interactions for SLCO4C1 Gene

genes like me logo Genes that share pathways with SLCO4C1: view

Interacting Proteins for SLCO4C1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000309741%0d%0a9606.ENSP00000311032%0d%0a9606.ENSP00000351250%0d%0a9606.ENSP00000310040%0d%0a9606.ENSP00000276893%0d%0a9606.ENSP00000352516%0d%0a
Selected Interacting proteins: Q6ZQN7-SO4C1_HUMAN ENSP00000309741 for SLCO4C1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SLCO4C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SLCO4C1: view

No data available for SIGNOR curated interactions for SLCO4C1 Gene

Drugs & Compounds for SLCO4C1 Gene

(11) Drugs for SLCO4C1 Gene - From: DrugBank, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digitoxin Approved, Investigational Pharma Transporter, inhibitor 2
Digoxin Approved Pharma Transporter, inhibitor 146
Liotrix Approved Pharma Transporter, substrate 0
Ouabain Approved Pharma Transporter, substrate 0
Dextrothyroxine Approved, Investigational Pharma Transporter 0
genes like me logo Genes that share compounds with SLCO4C1: view

Transcripts for SLCO4C1 Gene

mRNA/cDNA for SLCO4C1 Gene

Unigene Clusters for SLCO4C1 Gene

Solute carrier organic anion transporter family, member 4C1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLCO4C1 Gene

No ASD Table

Relevant External Links for SLCO4C1 Gene

GeneLoc Exon Structure for
SLCO4C1
ECgene alternative splicing isoforms for
SLCO4C1

Expression for SLCO4C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLCO4C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLCO4C1 Gene

This gene is overexpressed in Whole Blood (x13.7), Kidney - Cortex (x11.0), and Lung (x8.1).

Protein differential expression in normal tissues from HIPED for SLCO4C1 Gene

This gene is overexpressed in Nasal epithelium (64.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLCO4C1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLCO4C1 Gene:

SLCO4C1

SOURCE GeneReport for Unigene cluster for SLCO4C1 Gene:

Hs.127648

mRNA Expression by UniProt/SwissProt for SLCO4C1 Gene:

Q6ZQN7-SO4C1_HUMAN
Tissue specificity: Predominantly expressed in kidney but also weakly expressed in both fetal liver and kidney.

Evidence on tissue expression from TISSUES for SLCO4C1 Gene

  • Kidney(2.8)
genes like me logo Genes that share expression patterns with SLCO4C1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLCO4C1 Gene

Orthologs for SLCO4C1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLCO4C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLCO4C1 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia SLCO4C1 33 34
  • 86.59 (n)
mouse
(Mus musculus)
Mammalia Slco4c1 33 16 34
  • 81.92 (n)
cow
(Bos Taurus)
Mammalia SLCO4C1 33 34
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Slco4c1 33
  • 80.53 (n)
oppossum
(Monodelphis domestica)
Mammalia SLCO4C1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLCO4C1 33
  • 67.69 (n)
-- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slco4c1 33
  • 64.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oatp33Eb 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F53B1.8 33 34
  • 44.09 (n)
Y70G10A.3 34
  • 27 (a)
ManyToMany
K02G10.5 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
Species where no ortholog for SLCO4C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SLCO4C1 Gene

ENSEMBL:
Gene Tree for SLCO4C1 (if available)
TreeFam:
Gene Tree for SLCO4C1 (if available)

Paralogs for SLCO4C1 Gene

(13) SIMAP similar genes for SLCO4C1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLCO4C1: view

Variants for SLCO4C1 Gene

Sequence variations from dbSNP and Humsavar for SLCO4C1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000000499 -- 102,290,977(-) G/T intron_variant
rs1000034686 -- 102,247,023(-) CACA/CACACACA intron_variant
rs1000105382 -- 102,245,445(-) G/C intron_variant
rs1000116594 -- 102,245,671(-) T/A intron_variant
rs1000159456 -- 102,288,596(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLCO4C1 Gene

Variant ID Type Subtype PubMed ID
dgv1630e212 CNV gain 25503493
dgv3142n106 CNV deletion 24896259
esv2678701 CNV deletion 23128226
esv3304455 CNV mobile element insertion 20981092
esv3341818 CNV insertion 20981092
esv3575866 CNV gain 25503493
esv3606041 CNV loss 21293372
esv3890686 CNV loss 25118596
nsv1028787 CNV gain 25217958
nsv1029894 CNV gain 25217958
nsv1030146 CNV gain 25217958
nsv507279 OTHER sequence alteration 20534489
nsv522882 CNV loss 19592680

Variation tolerance for SLCO4C1 Gene

Residual Variation Intolerance Score: 9.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 50.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLCO4C1 Gene

Human Gene Mutation Database (HGMD)
SLCO4C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLCO4C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLCO4C1 Gene

Disorders for SLCO4C1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLCO4C1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
eastern equine encephalitis
  • eee
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLCO4C1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLCO4C1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLCO4C1 Gene

Publications for SLCO4C1 Gene

  1. Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney. (PMID: 14993604) Mikkaichi T … Abe T (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 25 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PMID: 19197249) Tripodi G … Manunta P (American journal of hypertension 2009) 3 44 58
  4. Transport of the dipeptidyl peptidase-4 inhibitor sitagliptin by human organic anion transporter 3, organic anion transporting polypeptide 4C1, and multidrug resistance P-glycoprotein. (PMID: 17314201) Chu XY … Evers R (The Journal of pharmacology and experimental therapeutics 2007) 4 22 58
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58

Products for SLCO4C1 Gene

Sources for SLCO4C1 Gene

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