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SLC25A24 Gene

protein-coding   GIFtS: 54
GCID: GC01M108677

Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier),
Member 241 2
     Calcium-Binding Mitochondrial Carrier Protein SCaMC-12
Mitochondrial ATP-Mg/Pi Carrier Protein 12 3     Calcium-Binding Transporter2
Mitochondrial Ca(2+)-Dependent Solute Carrier Protein 12 3     Short Calcium-Binding Mitochondrial Carrier 12
Small Calcium-Binding Mitochondrial Carrier Protein 12 3     MCSC13
APC12 3     SCAMC13
SCAMC-12     Solute Carrier Family 25 Member 243

External Ids:    HGNC: 206621   Entrez Gene: 299572   Ensembl: ENSG000000854917   OMIM: 6087445   UniProtKB: Q6NUK13   

Export aliases for SLC25A24 gene to outside databases

Previous GC identifers: GC01M108033 GC01M108389 GC01M106625


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC25A24 Gene:
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)

GeneCards Summary for SLC25A24 Gene:
SLC25A24 (solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24) is a protein-coding gene. Diseases associated with SLC25A24 include night blindness, and blindness. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SLC25A23.

UniProtKB/Swiss-Prot: SCMC1_HUMAN, Q6NUK1
Function: Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of
Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the
mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is
activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative
stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the
mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A24 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   FOXL1   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A24 promoter sequence
   Search Chromatin IP Primers for SLC25A24

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A24


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13.2

SLC25A24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A24 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M108677:  view genomic region     (about GC identifiers)

Start:
108,676,658 bp from pter      End:
108,743,471 bp from pter
Size:
66,814 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SCMC1_HUMAN, Q6NUK1 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein SCaMC-1  
Size: 477 amino acids; 53354 Da
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;
1 PDB 3D structure from and Proteopedia for SLC25A24:
4N5X (3D)    
Secondary accessions: B7ZAI9 Q5T331 Q5T485 Q6PJJ9 Q705K4 Q9P129
Alternative splicing: 2 isoforms:  Q6NUK1-1   Q6NUK1-2   

Explore the universe of human proteins at neXtProt for SLC25A24: NX_Q6NUK1

Explore proteomics data for SLC25A24 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62
  • Modification sites at PhosphoSitePlus

  • See SLC25A24 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_037518.3  NP_998816.1  

    ENSEMBL proteins: 
     ENSP00000457733   ENSP00000264128   ENSP00000359058   ENSP00000454393  

    SLC25A24 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SLC25A24
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SLC25A24
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    Novus Biologicals SLC25A24 Proteins
    Novus Biologicals SLC25A24 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC25A24

    SLC25A24 Antibody Products:

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    Abcam antibodies for SLC25A24
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    Search ThermoFisher Antibodies for SLC25A24
    LSBio Antibodies in human, mouse, rat for SLC25A24

    SLC25A24 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SLC25A24
    Cloud-Clone Corp. CLIAs for SLC25A24


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial phosphate carrier 1
    Miscellaneous SLC25 mitochondrial transporters

    Selected InterPro protein domains (see all 7):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q6NUK1

    ProtoNet protein and cluster: Q6NUK1

    1 Blocks protein domain: IPB002067 Mitochondrial carrier protein signature

    UniProtKB/Swiss-Prot: SCMC1_HUMAN, Q6NUK1
    Domain: The N-terminal domain can bind calcium and regulates the ATP carrier activity of the transmembrane domain.
    The apo form of the N-terminal domain is intrinsically disordered and binds to the transmembrane domain, leading
    to inhibition of the ATP carrier activity. Calcium binding leads to a major conformation change and abolishes the
    interaction with the transmembrane domain and the inhibition of the ATP carrier activity (PubMed:24332718)
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 4 EF-hand domains
    Similarity: Contains 3 Solcar repeats


    SLC25A24 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCMC1_HUMAN, Q6NUK1
    Function: Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of
    Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the
    mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is
    activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative
    stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the
    mitochondrial matrix, and thereby buffering calcium levels in the mitochondrial matrix
    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;

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005347ATP transmembrane transporter activity IMP--
    GO:0005509calcium ion binding IDA--
         
    SLC25A24 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A24
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A24
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC25A24

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC25A24:
    hsa-let-7b-5p (MIRT001592)

    Block miRNA regulation of human, mouse, rat SLC25A24 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A24 (see all 18):
    hsa-let-7d hsa-miR-548k hsa-miR-218-1* hsa-miR-4263 hsa-let-7c hsa-let-7g hsa-miR-9 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A24 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC25A24
    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A24

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SLC25A24
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC25A24 (NM_013386)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A24
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A24

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC25A24 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A24


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCMC1_HUMAN, Q6NUK1: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    peroxisome2
    golgi apparatus1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IDA--

    SLC25A24 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A24: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A24

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC25A24 (Q6NUK12 ENSP000002641284) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANAPC4Q9UJX52MINT-8413231 MINT-8413062
    ANAPC7Q9UJX32MINT-8413231 MINT-8413062
    BUB1BO605662MINT-8413231 MINT-8413062
    NEK2P519552MINT-8413062
    NTNG1ENSP000003590854STRING: ENSP00000359085
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006839mitochondrial transport IMP--
    GO:0010941regulation of cell death IMP--
    GO:0015867ATP transport IMP--
    GO:0034599cellular response to oxidative stress IMP--
    GO:0055085transmembrane transport ----

    SLC25A24 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC25A24 (SCMC1)

    1 HMDB Compound for SLC25A24    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC25A24 gene (2 alternative transcripts): 
    NM_013386.4  NM_213651.2  

    Unigene Cluster for SLC25A24:

    Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
    Hs.656870  [show with all ESTs]
    Unigene Representative Sequence: NM_013386
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565488(uc001dvn.4) ENST00000264128 ENST00000370041(uc001dvm.3)
    ENST00000569674
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLC25A24 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A24 (see all 18):
    hsa-let-7d hsa-miR-548k hsa-miR-218-1* hsa-miR-4263 hsa-let-7c hsa-let-7g hsa-miR-9 hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A24 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SLC25A24
    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A24
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SLC25A24 (NM_013386)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A24
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A24
      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A24
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A24

    Additional mRNA sequence: 

    AF123303.1 AJ619961.1 AJ619987.1 AK292567.1 AK304165.1 AK316304.1 AK316506.1 AL050209.1 
    BC014519.1 BC029377.1 BC068010.1 BC068561.1 

    7 DOTS entries:

    DT.121377993  DT.113065  DT.86856186  DT.426021  DT.95173708  DT.121378013  DT.95081389 

    Selected AceView cDNA sequences (see all 132):

    BQ962873 BG623074 BQ637518 BX101315 BF447395 NM_213651 AL050209 BX105317 
    AW057833 BX505986 AW673211 AA001049 CD251819 AI522316 BM772274 AA908319 
    AW069035 AJ619987 BC068010 BQ959355 CB124548 BM984763 BQ688961 BG779437 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC25A24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCAGCTCTT
    SLC25A24 Expression
    About this image


    SLC25A24 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Colon (Gastrointestinal Tract)
    SLC25A24 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A24 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656870

    UniProtKB/Swiss-Prot: SCMC1_HUMAN, Q6NUK1
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A24: 
              Mitochondria in human mouse rat

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    QuantiTect SYBR Green Assays in human, mouse, rat SLC25A24
    QuantiFast Probe-based Assays in human, mouse, rat SLC25A24
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A24

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC25A24 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a241 , 5 solute carrier family 25 (mitochondrial carrier, phosphate more1, 5 87.37(n)1
    93.68(a)1
      3 (48.13 cM)5
    2297311  NM_172685.31  NP_766273.11 
     1091231495 
    chicken
    (Gallus gallus)
    Aves SLC25A241 solute carrier family 25 (mitochondrial carrier; phosphate more 77.46(n)
    79.62(a)
      424337  XM_422180.4  XP_422180.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    78(a)
    65(a)
    1 ↔ many
    1 ↔ many
    GL343211.1(2359106-2382986)
    GL345102.1(1155-9901)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984742 hypothetical protein LOC398474 76.65(n)    BC043993.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:924701 zgc:92470 65.41(n)
    65.76(a)
      447867  NM_001004606.1  NP_001004606.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG321036
    --
    41(a)
    1 → many
    3L(12395395-12407942)
    worm
    (Caenorhabditis elegans)
    Secernentea F17E5.26
    F55A11.46
    Protein F17E5.2 (F17E5.2) mRNA, complete cds
    Protein F55A11.4, isoform a (F55A11.4) mRNA, compl...
    40(a)
    39(a)
    many ↔ many
    many ↔ many
    X(12394265-12399490) WBGene00008924
    V(11770532-11773495) WBGene00010077
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G510501 AT5G51050 49.96(n)
    43.18(a)
      835178  NM_124484.1  NP_199918.1 
    rice
    (Oryza sativa)
    Liliopsida Os.268812 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.7(n)    AK070190.1 


    ENSEMBL Gene Tree for SLC25A24 (if available)
    TreeFam Gene Tree for SLC25A24 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A24 gene
    SLC25A232  SLC25A422  SLC25A252  SLC25A412  SLC25A162  SLC25A432  
    15 SIMAP similar genes for SLC25A24 using alignment to 3 protein entries:     SCMC1_HUMAN (see all proteins):
    SLC25A25    SLC25A41    SLC25A23    SLC25A16    CALML5    SLC25A4
    CALM1    CALM2    CALM3    CALML3    SLC25A32    SLC25A6
    CAPS    SLC25A31    SLC25A5

    SLC25A24 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SLC25A24
    PGOHUM00000244135 PGOHUM00000244833


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC25A24 (see all 1335)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30433511,2
    C--106642303(-) GAAGC-/A/AAAA
    A
    /AAAAAA
    AAAAA
    4 -- int1 cds1 trp30--------
    rs1414923681,2
    C--106644186(+) ACTAA-/ACAC  
            
    ACACA
    2 -- int10--------
    rs345862041,2
    C--106646934(+) TAAAG-/A/A   
       A
    /AAA
    AAAAA
    4 -- int1 cds10--------
    rs1393445211,2
    C--106646935(+) TAAAG-/AAAAAAA 2 -- int10--------
    rs1997040031,2
    C--106647693(+) GGGTTG/TTTTTT 2 -- int10--------
    rs1495530001,2
    C--106666401(+) TCAAA-/AACAACAA 2 -- cds10--------
    rs678368191,2
    C--106669386(+) TATGA-/AGAG  
            
    AGAGA
    2 -- int11Minor allele frequency- AGAG:0.00CSA 2
    rs558493701,2
    C--108681168(+) GAGACAG/-TGTCA 2 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs797377751,2
    C--108681168(+) GAGAC-/AG/GG 
            
    CTGTC
    2 -- int10--------
    rs567936801,2
    C--108683442(+) AAAAA-/ATCAAC 2 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for SLC25A24 (108676658 - 108743471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC25A24 (see all 35):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv59e199CNV Deletion23128226
    esv3739CNV Deletion18987735
    esv2122744CNV Deletion18987734
    esv2623047CNV Deletion19546169
    esv2675031CNV Deletion23128226
    esv2421780CNV Deletion20811451
    esv2665550CNV Deletion23128226
    esv2715906CNV Deletion23290073
    nsv820521CNV Deletion20802225
    esv22495CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A24
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A24

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608744    OMIM disorders: --

    6 diseases for SLC25A24:    
    About MalaCards
    night blindness    blindness    graves' disease    thyroiditis
    cerebritis    endotheliitis


    SLC25A24 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC25A24
    Human Genome Epidemiology (HuGE) Navigator: SLC25A24 (2 documents)

    Export disorders for SLC25A24 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC25A24 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with SLC25A24)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. (PubMed id 15123600)1, 2, 3 Fiermonte G....Palmieri F. (J. Biol. Chem. 2004)
    2. A self-sequestered calmodulin-like Ca(2+) sensor of mitochondrial SCaMC carrier and its implication to Ca(2+)-dependent ATP-Mg/Pi transport. (PubMed id 24332718)1, 2 Yang Q.... Chou J.J. (Structure 2013)
    3. SCaMC-1 promotes cancer cell survival by desensitizing mitochondrial permeability transition via ATP/ADP-mediated matrix Ca(2+) buffering. (PubMed id 22015608)1, 2 Traba J....SatrA_stegui J. (Cell Death Differ. 2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains. (PubMed id 15054102)1, 2 del Arco A. and Satrustegui J. (J. Biol. Chem. 2004)
    7. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (Mol. Aspects Med. 2013)
    8. Profiling of Parkin-binding partners using tandem affinity purification. (PubMed id 24244333)1 Zanon A....Pichler I. (PLoS ONE 2013)
    9. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29957 HGNC: 20662 AceView: SLC25A24 Ensembl:ENSG00000085491 euGenes: HUgn29957
    ECgene: SLC25A24 H-InvDB: SLC25A24

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC25A24 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SLC25A24 gene:
    Search GeneIP for patents involving SLC25A24

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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