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Gene Gene information from NCBI Gene database.
Entrez ID 84275
Gene name Solute carrier family 25 member 33
Gene symbol SLC25A33
Synonyms (NCBI Gene)
BMSC-MCPPNC1
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]
miRNA miRNA information provided by mirtarbase database.
316 Show/Hide all (316)
miRTarBase ID miRNA Experiments Reference
MIRT049657 hsa-miR-92a-3p CLASH 23622248
MIRT041481 hsa-miR-193b-3p CLASH 23622248
MIRT718811 hsa-miR-26b-3p HITS-CLIP 19536157
MIRT718810 hsa-miR-6716-5p HITS-CLIP 19536157
MIRT718809 hsa-miR-2116-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31 Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0002082 Process Regulation of oxidative phosphorylation IMP 20453889
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610816 29681 ENSG00000171612
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00153 Mito_carr 7 → 123 Mitochondrial carrier protein Family
PF00153 Mito_carr 125 → 218 Mitochondrial carrier protein Family
PF00153 Mito_carr 229 → 320 Mitochondrial carrier protein Family
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
Sequence length 321
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
SLC25A33-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult-onset citrullinemia type 2 Citrullinemia BEFREE 10610724
★★★★★
★☆☆☆☆
Found in Text Mining only
Citrullinemia Citrullinemia BEFREE 10369257
★★★★★
★☆☆☆☆
Found in Text Mining only