SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] See more...

Aliases for SLC25A33 Gene

Aliases for SLC25A33 Gene

  • Solute Carrier Family 25 Member 33 2 3 4 5
  • BMSC-MCP 2 3 4
  • Solute Carrier Family 25 (Pyrimidine Nucleotide Carrier), Member 33 2 3
  • Bone Marrow Stromal Cell Mitochondrial Carrier Protein 3 4
  • HuBMSC-MCP 3 4
  • PNC1 2 3
  • Solute Carrier Family 25, Member 33 2
  • Novel Mitochondrial Carrier Protein 3
  • Mitochondrial Carrier Protein 3
  • Protein PNC1 4
  • SLC25A33 5
  • MGC4399 2

External Ids for SLC25A33 Gene

Previous GeneCards Identifiers for SLC25A33 Gene

  • GC01P009523
  • GC01P008749

Summaries for SLC25A33 Gene

Entrez Gene Summary for SLC25A33 Gene

  • SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC25A33 Gene

SLC25A33 (Solute Carrier Family 25 Member 33) is a Protein Coding gene. Diseases associated with SLC25A33 include Orofaciodigital Syndrome Viii and Schnyder Corneal Dystrophy. Gene Ontology (GO) annotations related to this gene include pyrimidine nucleotide transmembrane transporter activity. An important paralog of this gene is SLC25A36.

UniProtKB/Swiss-Prot Summary for SLC25A33 Gene

  • Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria (PubMed:25320081). Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed:25320081). Also transports guanine but not adenine (deoxy)nucleotides (PubMed:25320081). Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate) (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration (PubMed:20453889). Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (PubMed:20453889, PubMed:17596519). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation (PubMed:14715278).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A33 Gene

Genomics for SLC25A33 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A33 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
GH01J009537 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.0 22 4.6 SP1 ZNF207 MYC ZNF600 IKZF1 SSRP1 ZNF580 ZNF592 ATF2 POLR2A SLC25A33 TMEM201 piR-34822-002 HSALNG0000677
GH01J009588 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 12 +50.6 50551 4 ZNF207 ZNF600 MYC IKZF1 ZIC2 NONO CTCF ZNF592 SIN3A ZNF341 TMEM201 SLC25A33 HSALNG0000707 PIK3CD
GH01J009625 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 11.3 +89.3 89296 6 BCLAF1 SP1 ZNF207 ZNF654 MYC ZNF600 IKZF1 ZNF592 ZMYM3 POLR2A PIK3CD HSALNG0000710 LOC105376712 SLC25A33 TMEM201 RF00017-042
GH01J009570 Enhancer 0.6 Ensembl 12.2 +31.4 31435 1.4 CEBPA SMAD4 KDM1A ZNF362 IKZF5 CEBPG ARID4B NFIL3 HLF GATAD2A SLC25A33 HSALNG0000677 piR-34822-002 TMEM201
GH01J009624 Enhancer 0.5 Ensembl 11.3 +84.8 84836 0.2 IKZF1 MCM7 MCM5 ZNF366 ZNF512 YBX3 MTA2 ZNF184 PHB2 RF00017-042 GPR157 SLC25A33 TMEM201 HSALNG0000709 PIK3CD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A33 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A33

Top Transcription factor binding sites by QIAGEN in the SLC25A33 gene promoter:
  • ATF6
  • Bach2
  • FOXO4
  • HFH-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • RFX1
  • XBP-1

Genomic Locations for SLC25A33 Gene

Latest Assembly
chr1:9,539,465-9,585,173
(GRCh38/hg38)
Size:
45,709 bases
Orientation:
Plus strand

Previous Assembly
chr1:9,599,524-9,645,231
(GRCh37/hg19 by Entrez Gene)
Size:
45,708 bases
Orientation:
Plus strand

chr1:9,599,541-9,645,237
(GRCh37/hg19 by Ensembl)
Size:
45,697 bases
Orientation:
Plus strand

Genomic View for SLC25A33 Gene

Genes around SLC25A33 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A33 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A33 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A33 Gene

Proteins for SLC25A33 Gene

  • Protein details for SLC25A33 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSK2-S2533_HUMAN
    Recommended name:
    Solute carrier family 25 member 33
    Protein Accession:
    Q9BSK2

    Protein attributes for SLC25A33 Gene

    Size:
    321 amino acids
    Molecular mass:
    35375 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A33 Gene

Post-translational modifications for SLC25A33 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A33 Gene

No data available for DME Specific Peptides for SLC25A33 Gene

Domains & Families for SLC25A33 Gene

Gene Families for SLC25A33 Gene

Protein Domains for SLC25A33 Gene

Suggested Antigen Peptide Sequences for SLC25A33 Gene

GenScript: Design optimal peptide antigens:
  • Protein PNC1 (S2533_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BSK2

UniProtKB/Swiss-Prot:

S2533_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A33: view

Function for SLC25A33 Gene

Molecular function for SLC25A33 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria (PubMed:25320081). Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed:25320081). Also transports guanine but not adenine (deoxy)nucleotides (PubMed:25320081). Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate) (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration (PubMed:20453889). Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production (PubMed:20453889, PubMed:17596519). Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation (PubMed:14715278).
UniProtKB/Swiss-Prot Induction:
By INS or IGF1 through the PI-3 kinase/mTOR pathway.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.16 mM for UTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; KM=0.18 mM for CTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; KM=0.08 mM for TTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; KM=0.30 mM for GTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; Vmax=98.5 umol/min/g enzyme toward UTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; Vmax=22.5 umol/min/g enzyme toward CTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; Vmax=50.8 umol/min/g enzyme toward TTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; Vmax=15.7 umol/min/g enzyme toward GTP (at 25 degrees Celsius) {ECO:0000269|PubMed:25320081}; Note=The inhibitory constants (Ki) of these compounds are 174 um (UTP), 195 um (CTP), 318 um (GTP), and 333 um (ITP). UTP is the best substrate. {ECO:0000269|PubMed:25320081};

Phenotypes From GWAS Catalog for SLC25A33 Gene

Gene Ontology (GO) - Molecular Function for SLC25A33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015218 pyrimidine nucleotide transmembrane transporter activity IDA 17596519
genes like me logo Genes that share ontologies with SLC25A33: view
genes like me logo Genes that share phenotypes with SLC25A33: view

miRNA for SLC25A33 Gene

miRTarBase miRNAs that target SLC25A33

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A33

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A33 Gene

Localization for SLC25A33 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A33 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

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 SLC25A33 gene
Compartment Confidence
mitochondrion 4
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for SLC25A33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA,ISS --
genes like me logo Genes that share ontologies with SLC25A33: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A33 Gene

Pathways & Interactions for SLC25A33 Gene

PathCards logo

SuperPathways for SLC25A33 Gene

No Data Available

Interacting Proteins for SLC25A33 Gene

Gene Ontology (GO) - Biological Process for SLC25A33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IDA 25320081
GO:0002082 regulation of oxidative phosphorylation IMP 20453889
GO:0006390 mitochondrial transcription IMP 20453889
GO:0006864 pyrimidine nucleotide transport IDA 25320081
GO:0007005 mitochondrion organization IMP 20453889
genes like me logo Genes that share ontologies with SLC25A33: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A33 Gene

Drugs & Compounds for SLC25A33 Gene

No Compound Related Data Available

Transcripts for SLC25A33 Gene

mRNA/cDNA for SLC25A33 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A33

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A33 Gene

No ASD Table

Relevant External Links for SLC25A33 Gene

GeneLoc Exon Structure for
SLC25A33

Expression for SLC25A33 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A33 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A33 Gene

This gene is overexpressed in Bone (45.5) and Cerebrospinal fluid (19.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A33 Gene



Protein tissue co-expression partners for SLC25A33 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A33

SOURCE GeneReport for Unigene cluster for SLC25A33 Gene:

Hs.568613

mRNA Expression by UniProt/SwissProt for SLC25A33 Gene:

Q9BSK2-S2533_HUMAN
Tissue specificity: Expressed in the central nervous system. Also expressed in testis and skeletal muscle. Weakly expressed in heart, liver, kidney, prostate, colon and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for SLC25A33 Gene

  • Skin(4.3)
  • Eye(4.3)
genes like me logo Genes that share expression patterns with SLC25A33: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A33 Gene

Orthologs for SLC25A33 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A33 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A33 29 30
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A33 29 30
  • 93.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A33 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A33 29 30
  • 90.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A33 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc25a33 29 16 30
  • 86.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a33 29
  • 85.27 (n)
Chicken
(Gallus gallus)
Aves SLC25A33 29 30
  • 80.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A33 30
  • 82 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii slc25a33 29 30
  • 69.12 (n)
OneToOne
wufe01d11 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG18317 30
  • 45 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T09F3.2 30
  • 37 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM2 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.998 30
  • 42 (a)
OneToMany
Species where no ortholog for SLC25A33 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SLC25A33 Gene

ENSEMBL:
Gene Tree for SLC25A33 (if available)
TreeFam:
Gene Tree for SLC25A33 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A33: view image
Alliance of Genome Resources:
Additional Orthologs for SLC25A33

Paralogs for SLC25A33 Gene

Variants for SLC25A33 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A33 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs35819756 -- p.Leu242Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A33 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A33 Gene

Variant ID Type Subtype PubMed ID
esv2476310 CNV loss 19546169
esv2658500 CNV deletion 23128226
esv2660900 CNV deletion 23128226
esv3577723 CNV loss 25503493
esv3585180 CNV loss 21293372
esv3585181 CNV loss 21293372
nsv1013224 CNV gain 25217958
nsv2076 CNV insertion 18451855
nsv545363 CNV loss 21841781
nsv545377 CNV gain 21841781
nsv945765 CNV duplication 23825009

Variation tolerance for SLC25A33 Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A33 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A33
Leiden Open Variation Database (LOVD)
SLC25A33

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A33 Gene

Disorders for SLC25A33 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC25A33 Gene - From: COP

Disorder Aliases PubMed IDs
orofaciodigital syndrome viii
  • ofd8
schnyder corneal dystrophy
  • sccd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A33

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A33: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A33 Gene

Publications for SLC25A33 Gene

  1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4
  2. HuBMSC-MCP, a novel member of mitochondrial carrier superfamily, enhances dendritic cell endocytosis. (PMID: 14715278) Wang B … Cao X (Biochemical and biophysical research communications 2004) 2 3 4
  3. The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters. (PMID: 25320081) Di Noia MA … Palmieri F (The Journal of biological chemistry 2014) 3 4
  4. Mitochondrial pyrimidine nucleotide carrier (PNC1) regulates mitochondrial biogenesis and the invasive phenotype of cancer cells. (PMID: 20453889) Favre C … O'Connor R (Oncogene 2010) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

Products for SLC25A33 Gene

Sources for SLC25A33 Gene