SLC25A33 (solute carrier family 25 member 33)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 84275 |
| Gene name | Solute carrier family 25 member 33 |
| Gene symbol | SLC25A33 |
| Synonyms (NCBI Gene) |
BMSC-MCPPNC1
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| Chromosome | 1 |
| Chromosome location | 1p36.22 |
| Summary | SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9BSK2 | ||||||||||||||||||||
| Protein name | Solute carrier family 25 member 33 (Bone marrow stromal cell mitochondrial carrier protein) (BMSC-MCP) (HuBMSC-MCP) (Protein PNC1) | ||||||||||||||||||||
| Protein function | Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports uridine, thymidine, guanosine, cytosine and inosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism (PubMed | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | 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. {ECO:0000269|PubMed:14715278}. | ||||||||||||||||||||
| Sequence |
MATGGQQKENTLLHLFAGGCGGTVGAIFTCPLEVIKTRLQSSRLALRTVYYPQVHLGTIS |
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| Sequence length | 321 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with SLC25A33 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to SLC25A33 (see Related Genes above), that are NOT already directly curated for SLC25A33 itself -- a lead worth checking, not a confirmed association.
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