Human Gene SLC25A48 (ENST00000274513.9) from GENCODE V44
  Description: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity). (from UniProt Q6ZT89)
Gencode Transcript: ENST00000274513.9
Gencode Gene: ENSG00000145832.16
Transcript (Including UTRs)
   Position: hg38 chr5:135,834,676-135,872,747 Size: 38,072 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr5:135,834,848-135,871,915 Size: 37,068 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:135,834,676-135,872,747)mRNA (may differ from genome)Protein (291 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMGIneXtProtPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: S2548_HUMAN
DESCRIPTION: RecName: Full=Solute carrier family 25 member 48;
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 3 Solcar repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.13 RPKM in Nerve - Tibial
Total median expression: 40.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -91.30172-0.531 Picture PostScript Text
3' UTR -231.50832-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

ModBase Predicted Comparative 3D Structure on Q6ZT89
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0022857 transmembrane transporter activity
GO:0000064 L-ornithine transmembrane transporter activity

Biological Process:
GO:0006839 mitochondrial transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK126812 - Homo sapiens cDNA FLJ44862 fis, clone BRALZ2010842.
BC025747 - Homo sapiens mitochondrial carrier protein-like, mRNA (cDNA clone MGC:35539 IMAGE:5200129), complete cds.
JD394898 - Sequence 375922 from Patent EP1572962.
KJ900301 - Synthetic construct Homo sapiens clone ccsbBroadEn_09695 SLC25A48 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: AK126812, ENST00000274513.1, ENST00000274513.2, ENST00000274513.3, ENST00000274513.4, ENST00000274513.5, ENST00000274513.6, ENST00000274513.7, ENST00000274513.8, Q6ZT89, Q8TAV9, S2548_HUMAN, uc003laz.1
UCSC ID: ENST00000274513.9
RefSeq Accession: NR_146141
Protein: Q6ZT89 (aka S2548_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.