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Aliases for SLC25A33 Gene

Aliases for SLC25A33 Gene

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

External Ids for SLC25A33 Gene

Previous GeneCards Identifiers for SLC25A33 Gene

  • 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. 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 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).

Additional gene information for SLC25A33 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A33 Gene

Genomics for SLC25A33 Gene

GeneHancer (GH) Regulatory Elements for SLC25A33 Gene

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
GH01I009537 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 0.0 -37 4.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC25A33 TMEM201 ENSG00000235263
GH01I009625 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +89.3 89304 6.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 IRF4 ZNF213 E2F8 ZNF207 PIK3CD LOC105376712 SLC25A33 TMEM201
GH01I009274 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -263.8 -263805 1.3 ARID4B IRF4 TCF12 GLIS2 ATF7 FOS RUNX3 SMARCA4 MYNN GLIS1 SPSB1 H6PD SLC25A33 PIR55180
GH01I009135 Enhancer 0.7 FANTOM5 1.5 -403.9 -403891 0.3 PKNOX1 CBFB NR2F1 EBF1 ELF1 POLR2A IKZF1 NBN ATF7 RUNX3 GPR157 SLC25A33 MIR34A
GH01I009542 Enhancer 0.7 Ensembl ENCODE 0.8 +2.9 2936 0.8 NFIC NFIA SAP130 ZNF10 SCRT2 HMBOX1 ZBTB33 SLC25A33 RPL9P11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A33 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A33 gene promoter:

Genomic Locations for SLC25A33 Gene

Genomic Locations for SLC25A33 Gene
chr1:9,539,469-9,585,179
(GRCh38/hg38)
Size:
45,711 bases
Orientation:
Plus strand
chr1:9,599,528-9,645,237
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for SLC25A33 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A33 Gene

Domains & Families for SLC25A33 Gene

Gene Families for SLC25A33 Gene

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

Protein Domains for SLC25A33 Gene

Suggested Antigen Peptide Sequences for SLC25A33 Gene

GenScript: Design optimal peptide antigens:

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 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};
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.

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

Animal Model Products

CRISPR Products

miRNA for SLC25A33 Gene

miRTarBase miRNAs that target SLC25A33

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
peroxisome 2
extracellular 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

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 IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
GO:0031966 mitochondrial membrane ISS,IEA --
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

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:0006810 transport IEA --
GO:0006839 mitochondrial transport IBA --
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

Unigene Clusters for SLC25A33 Gene

Solute carrier family 25 (pyrimidine nucleotide carrier), member 33:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SLC25A33 Gene

GeneLoc Exon Structure for
SLC25A33
ECgene alternative splicing isoforms for
SLC25A33

Expression for SLC25A33 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SLC25A33 Gene



Protein tissue co-expression partners for SLC25A33 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A33 Gene:

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

  • Eye(4.1)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with SLC25A33: view

Primer Products

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 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia SLC25A33 33 34
  • 93.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A33 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A33 33 34
  • 90.55 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A33 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a33 33 16 34
  • 86.52 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a33 33
  • 85.27 (n)
chicken
(Gallus gallus)
Aves SLC25A33 33 34
  • 80.36 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A33 34
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc25a33 33 34
  • 69.12 (n)
wufe01d11 33
fruit fly
(Drosophila melanogaster)
Insecta CG18317 34
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T09F3.2 34
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM2 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.998 34
  • 42 (a)
OneToMany
Species where no ortholog for SLC25A33 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)
  • 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)
  • 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)

Paralogs for SLC25A33 Gene

Paralogs for SLC25A33 Gene

(1) SIMAP similar genes for SLC25A33 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC25A33: view

Variants for SLC25A33 Gene

Sequence variations from dbSNP and Humsavar for SLC25A33 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000087092 -- 9,582,165(+) C/T intron_variant
rs1000099130 -- 9,540,788(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000124836 -- 9,569,193(+) C/G intron_variant
rs1000278719 -- 9,570,699(+) A/G intron_variant
rs1000292175 -- 9,551,452(+) G/A genic_upstream_transcript_variant, intron_variant

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

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

Disorders for SLC25A33 Gene

Additional Disease Information for SLC25A33

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SLC25A33 Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. 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 58

Products for SLC25A33 Gene

Sources for SLC25A33 Gene

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