• Gene id: 84275

Gene Summary

• Gene Symbol: SLC25A33   Gene   UCSC   Ensembl
• Aliases: BMSC-MCP, PNC1
• Gene name: solute carrier family 25 member 33
• Alternate names: solute carrier family 25 member 33, PNC1 protein, bone marrow stromal cell mitochondrial carrier protein, huBMSC-MCP, mitochondrial carrier protein, novel mitochondrial carrier protein, solute carrier family 25 (pyrimidine nucleotide carrier), member 33,
• Gene location: 1p36.22 (9539464: 9585172)     Exons: 9     NC_000001.11
• Gene summary(Entrez): SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
• OMIM: 610816

Protein Summary

• Protein general information: Q9BSK2  
  • Name: Solute carrier family 25 member 33 (Bone marrow stromal cell mitochondrial carrier protein) (BMSC MCP) (HuBMSC MCP) (Protein PNC1)
  • Length: 321  
  • Mass: 35375
  • 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
• Sequence:

  MATGGQQKENTLLHLFAGGCGGTVGAIFTCPLEVIKTRLQSSRLALRTVYYPQVHLGTISGAGMVRPTSVTPGLF
  QVLKSILEKEGPKSLFRGLGPNLVGVAPSRAVYFACYSKAKEQFNGIFVPNSNIVHIFSAGSAAFITNSLMNPIW
  MVKTRMQLEQKVRGSKQMNTLQCARYVYQTEGIRGFYRGLTASYAGISETIICFAIYESLKKYLKEAPLASSANG
  TEKNSTSFFGLMAAAALSKGCASCIAYPHEVIRTRLREEGTKYKSFVQTARLVFREEGYLAFYRGLFAQLIRQIP
  NTAIVLSTYELIVYLLEDRTQ

• Structural information:
  • Interpro: IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000306328
• Other Databases: GeneCards:  SLC25A33  Malacards:  SLC25A33

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015218	pyrimidine nucleotide transmembrane transporter activity	IBA	molecular function
GO:1990519	pyrimidine nucleotide import into mitochondrion	IBA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0007005	mitochondrion organization	IDA	biological process
GO:0006864	pyrimidine nucleotide transport	IDA	biological process
GO:0015218	pyrimidine nucleotide transmembrane transporter activity	IDA	molecular function
GO:1990314	cellular response to insulin-like growth factor stimulus	IDA	biological process
GO:0051881	regulation of mitochondrial membrane potential	IDA	biological process
GO:0000002	mitochondrial genome maintenance	IDA	biological process
GO:0015218	pyrimidine nucleotide transmembrane transporter activity	IDA	molecular function
GO:0007005	mitochondrion organization	IMP	biological process
GO:0006390	mitochondrial transcription	IMP	biological process
GO:0002082	regulation of oxidative phosphorylation	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0031966	mitochondrial membrane	ISS	cellular component
GO:1990519	pyrimidine nucleotide import into mitochondrion	ISS	biological process
GO:0031930	mitochondria-nucleus signaling pathway	ISS	biological process
GO:0030307	positive regulation of cell growth	ISS	biological process
GO:1903426	regulation of reactive oxygen species biosynthetic process	IMP	biological process
GO:0034551	mitochondrial respiratory chain complex III assembly	IMP	biological process
GO:1990519	pyrimidine nucleotide import into mitochondrion	IMP	biological process
GO:0071156	regulation of cell cycle arrest	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1990519	pyrimidine nucleotide import into mitochondrion	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0031930	mitochondria-nucleus signaling pathway	IEA	biological process
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray