Human Gene SLC25A24 (uc001dvn.5)
  Description: Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_013386): This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
Transcript (Including UTRs)
   Position: hg19 chr1:108,677,344-108,742,980 Size: 65,637 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr1:108,679,275-108,742,760 Size: 63,486 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:108,677,344-108,742,980)mRNA (may differ from genome)Protein (477 aa)
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-  Comments and Description Text from UniProtKB
  ID: SCMC1_HUMAN
DESCRIPTION: RecName: Full=Calcium-binding mitochondrial carrier protein SCaMC-1; AltName: Full=Mitochondrial ATP-Mg/Pi carrier protein 1; AltName: Full=Mitochondrial Ca(2+)-dependent solute carrier protein 1; AltName: Full=Small calcium-binding mitochondrial carrier protein 1; AltName: Full=Solute carrier family 25 member 24;
FUNCTION: Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.97 mM for AMP; KM=0.3 mM for ADP; KM=0.33 mM for ATP; KM=0.2 mM for ATP-Mg; KM=1.64 mM for Pi; Vmax=337 umol/min/g enzyme with AMP as substrate; Vmax=345 umol/min/g enzyme with ADP as substrate; Vmax=320 umol/min/g enzyme with ATP as substrate; Vmax=365 umol/min/g enzyme with ATP-Mg as substrate; Vmax=380 umol/min/g enzyme with Pi as substrate;
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Present in various cell lines (at protein level). Expressed in all tissues tested. Highly expressed in testis, expressed at intermediate level in small intestine and pancreas, and weakly expressed in kidney, spleen, liver, skeletal muscle and heart.
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 4 EF-hand domains.
SIMILARITY: Contains 3 Solcar repeats.
SEQUENCE CAUTION: Sequence=AAF28888.1; Type=Frameshift; Positions=418, 464; Sequence=CAI13622.1; Type=Erroneous gene model prediction; Sequence=CAI14512.1; Type=Erroneous gene model prediction;

-  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.
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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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC25A24
CDC HuGE Published Literature: SLC25A24
Positive Disease Associations: Blood Pressure
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Blood Pressure
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.76 RPKM in Cells - Cultured fibroblasts
Total median expression: 189.97 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.01220-0.482 Picture PostScript Text
3' UTR -416.471931-0.216 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
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR002167 - Graves_DC
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein
PF13202 - EF hand
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand
103506 - Mitochondrial carrier

ModBase Predicted Comparative 3D Structure on Q6NUK1
FrontTopSide
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
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005347 ATP transmembrane transporter activity
GO:0005509 calcium ion binding
GO:0015217 ADP transmembrane transporter activity
GO:0046872 metal ion binding

Biological Process:
GO:0006839 mitochondrial transport
GO:0010941 regulation of cell death
GO:0015866 ADP transport
GO:0015867 ATP transport
GO:0034599 cellular response to oxidative stress
GO:0055085 transmembrane transport
GO:0071277 cellular response to calcium ion

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
  BC029377 - Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24, mRNA (cDNA clone IMAGE:4807443).
AL050209 - Homo sapiens mRNA; cDNA DKFZp586G0123 (from clone DKFZp586G0123).
BC068010 - Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24, mRNA (cDNA clone IMAGE:6168676).
AJ619961 - Homo sapiens partial mRNA for mitochondrial ATP-Mg/Pi carrier isoform 1, (SLC25A24 gene).
AF123303 - Homo sapiens calcium-binding transporter mRNA, partial cds.
AJ619987 - Homo sapiens mRNA for small calcium-binding mitochondrial carrier 1 (SCAMC-1 gene).
BC014519 - Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24, mRNA (cDNA clone MGC:10669 IMAGE:3842039), complete cds.
BC068561 - Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24, mRNA (cDNA clone MGC:87498 IMAGE:5259336), complete cds.
JD228294 - Sequence 209318 from Patent EP1572962.
JD358741 - Sequence 339765 from Patent EP1572962.
JD292988 - Sequence 274012 from Patent EP1572962.
JD270627 - Sequence 251651 from Patent EP1572962.
JD121222 - Sequence 102246 from Patent EP1572962.
JD061358 - Sequence 42382 from Patent EP1572962.
AK316304 - Homo sapiens cDNA, FLJ79203 complete cds, highly similar to Homo sapiens solute carrier family 25, member 24, transcript variant 1, mRNA.
AK292567 - Homo sapiens cDNA FLJ76456 complete cds, highly similar to Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), transcript variant 2, mRNA.
AK316506 - Homo sapiens cDNA, FLJ79405 complete cds, highly similar to Homo sapiens solute carrier family 25, member 24, transcript variant 1, mRNA.
AK304165 - Homo sapiens cDNA FLJ50039 complete cds, highly similar to Homo sapiens solute carrier family 25, member 24, transcript variant 1, mRNA.
EU832524 - Synthetic construct Homo sapiens clone HAIB:100067553; DKFZo008H1029 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 protein (SLC25A24) gene, encodes complete protein.
EU832606 - Synthetic construct Homo sapiens clone HAIB:100067635; DKFZo004H1030 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 protein (SLC25A24) gene, encodes complete protein.
BC029905 - Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24, mRNA (cDNA clone IMAGE:5175628), with apparent retained intron.

-  Other Names for This Gene
  Alternate Gene Symbols: APC1, B7ZAI9, MCSC1, NM_013386, NP_037518, Q5T331, Q5T485, Q6NUK1, Q6PJJ9, Q705K4, Q9P129, SCAMC1, SCMC1_HUMAN, uc001dvn.4
UCSC ID: uc001dvn.5
RefSeq Accession: NM_013386
Protein: Q6NUK1 (aka SCMC1_HUMAN)
CCDS: CCDS41361.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC25A24:
slc25a24-fps (SLC25A24 Fontaine Progeroid Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_013386.4
exon count: 10CDS single in 3' UTR: no RNA size: 3600
ORF size: 1434CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3068.00frame shift in genome: no % Coverage: 99.58
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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