SLC25A33 - solute carrier family 25 member 33 Gene

Also Known as PNC1; BMSC-MCP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84275

About SLC25A33

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,539,465-9,585,173 (from NCBI)

This gene has 1 transcript (splice variant), 198 orthologues and 49 paralogues. Broad expression in testis (RPKM 27.8), fat (RPKM 18.2) and 23 other tissues.

Summary

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

SLC25A33 Products (1)

mRNA Protein Name
NM_032315.3 NP_115691.1 solute carrier family 25 member 33
Molecular Function GO Annotation Evidence References Source
enables pyrimidine nucleotide transmembrane transporter activity IDA
IDA: Inferred from direct assay
17596519 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to insulin stimulus IDA
IDA: Inferred from direct assay
17596519 GOA
involved in cellular response to insulin-like growth factor stimulus IDA
IDA: Inferred from direct assay
17596519 GOA
involved in mitochondrial genome maintenance IDA
IDA: Inferred from direct assay
25320081 GOA
involved in mitochondrial respiratory chain complex III assembly IMP
IMP: Inferred from mutant phenotype
20453889 GOA
involved in mitochondrial transcription IMP
IMP: Inferred from mutant phenotype
20453889 GOA
involved in mitochondrion organization IDA
IDA: Inferred from direct assay
25320081 GOA
involved in mitochondrion organization IMP
IMP: Inferred from mutant phenotype
20453889 GOA
involved in positive regulation of cell growth IMP
IMP: Inferred from mutant phenotype
17596519 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
17596519 GOA
involved in pyrimidine nucleotide import into mitochondrion IMP
IMP: Inferred from mutant phenotype
17596519 GOA
involved in pyrimidine nucleotide transport IDA
IDA: Inferred from direct assay
25320081 GOA
involved in regulation of mitochondrial membrane potential IDA
IDA: Inferred from direct assay
25320081 GOA
involved in regulation of oxidative phosphorylation IMP
IMP: Inferred from mutant phenotype
20453889 GOA
involved in regulation of reactive oxygen species biosynthetic process IMP
IMP: Inferred from mutant phenotype
20453889 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A33 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (8 - 120)

Mito_carr

Mito_carr: Mitochondrial carrier protein (127 - 216)

Mito_carr

Mito_carr: Mitochondrial carrier protein (230 - 317)

  • 0
  • 100
  • 200
  • 300
  • 321 a.a.
Protein Preferred Names Protein Names

solute carrier family 25 member 33

  • bone marrow stromal cell mitochondrial carrier protein

Related Diseases

Diseases Alias
Schnyder Corneal Dystrophy
  • Schnyder Crystalline Corneal Dystrophy

  • SCCD

  • Corneal Dystrophy, Crystalline, Of Schnyder

  • Corneal Dystrophy, Schnyder Type

  • Corneal Dystrophy Crystalline Of Schnyder

  • Crystalline Stromal Dystrophy

  • Hereditary Crystalline Stromal Dystrophy Of Schnyder

  • Scd

  • Corneal Dystrophy, Schnyder

  • Schnyder Crystalline Dystrophy Sine Crystals

  • Dystrophy, Corneal, Crystalline, Schnyder

Orofaciodigital Syndrome Viii
  • Edwards Syndrome

  • Trisomy 18

  • Complete Trisomy 18 Syndrome

  • OFD8

  • Orofaciodigital Syndrome 8

  • Trisomy 18 Syndrome

  • Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis

  • E3 Trisomy

  • Oral-Facial-Digital Syndrome Type 8

  • Orofaciodigital Syndrome Type 8

  • Ofds Viii

  • Oral-Facial-Digital Syndrome, Type Viii

  • Ofd Syndrome 8

  • Ofds 8

  • Oral Facial Digital Syndrome 8

  • Oral Facial Digital Syndrome Type 8

  • 18 Trisomy

  • Chromosome 18 Trisomy

  • Trisomy 16-18

  • Trisomy E

  • Trisomy E Syndrome

  • Chromosome 18 Duplication

  • Oral-Facial-Digital Syndrome, Edwards Type

  • Orofaciodigital Syndrome, Edwards Type

  • Chromosome 18, Trisomy

  • Cleft Lip/Palate With Abnormal Thumbs And Microcephaly

  • Trisomy 18 Chromosome

  • Abnormal Autosomes 18

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SLC25A33 MGD MGI:1917806
Bos taurus SLC25A33 VGNC VGNC:34759
Canis familiaris SLC25A33 VGNC VGNC:46307
Rattus norvegicus SLC25A33 RGD RGD:1583942
Felis catus SLC25A33 VGNC VGNC:65270
Others SLC25A33 NCBI