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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC25A53 Gene

protein-coding   GIFtS: 34
GCID: GC0XM103344

Solute Carrier Family 25, Member 53

(Previous name: mitochondrial carrier triple repeat 6)
(Previous symbol: MCART6)
  Search for SLC25A53
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 25, Member 531 2
MCART61 2 3
Mitochondrial Carrier Triple Repeat Protein 62 3
Mitochondrial Carrier Triple Repeat 61
Solute Carrier Family 25 Member 532

External Ids:    HGNC: 318941   Entrez Gene: 4016122   Ensembl: ENSG000001762747   UniProtKB: Q5H9E43   

Export aliases for SLC25A53 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SLC25A53 Gene: 
SLC25A53 (solute carrier family 25, member 53) is a protein-coding gene. An important paralog of this gene is LOC494141.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLC25A53
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A53 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A53

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A53


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

Entrez Gene cytogenetic band: Xq22.2   Ensembl cytogenetic band:  Xq22.2   HGNC cytogenetic band: Xq22.2

SLC25A53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A53 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM103344:  view genomic region     (about GC identifiers)

Start:
103,343,898 bp from pter      End:
103,401,708 bp from pter
Size:
57,811 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S2553_HUMAN, Q5H9E4 (See protein sequence)
Recommended Name: Solute carrier family 25 member 53  
Size: 307 amino acids; 34481 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B2RTT9

Explore the universe of human proteins at neXtProt for SLC25A53: NX_Q5H9E4

Explore proteomics data for SLC25A53 at MOPED 

SLC25A53 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SLC25A53 Protein Expression

REFSEQ proteins: NP_001012773.2  
ENSEMBL proteins: 
 ENSP00000361681  

Human Recombinant Protein Products for SLC25A53: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005743mitochondrial inner membrane IEA--
GO:0016021integral to membrane IEA--

SLC25A53 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
SLC: Solute carriers

2 InterPro protein domains:
 IPR023395 Mt_carrier_dom
 IPR018108 Mitochondrial_sb/sol_carrier

Graphical View of Domain Structure for InterPro Entry Q5H9E4

ProtoNet protein and cluster: Q5H9E4

UniProtKB/Swiss-Prot: S2553_HUMAN, Q5H9E4
Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
Similarity: Contains 3 Solcar repeats


SLC25A53 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A53

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport IEA--

SLC25A53 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC25A53 (S2553)

Search CenterWatch for drugs/clinical trials and news about SLC25A53 / S2553

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC25A53 gene: 
NM_001012755.4  

Unigene Cluster for SLC25A53:

Solute carrier family 25, member 53
Hs.660022  [show with all ESTs]
Unigene Representative Sequence: AL833609
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000357421(uc004elu.3) ENST00000467290
miRNA
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Additional mRNA sequence: 

AL833609.1 BC035919.1 BC140812.1 BC140814.1 

3 DOTS entries:

DT.95175757  DT.91862833  DT.91816050 

14 AceView cDNA sequences:

BU158358 AI734214 AA745794 BG391421 N78954 AL833609 BX426139 AI668646 
BI856197 W17348 BC035919 AW865890 AV748356 BX456572 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC25A53 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGTACAATGT
SLC25A53 Expression
About this image


See SLC25A53 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC25A53

SOURCE GeneReport for Unigene cluster: Hs.660022
    SABiosciences Custom PCR Arrays for SLC25A53
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A53

(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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A53 gene from 3/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Slc25a535
Mcart61
mitochondrial carrier triple repeat 61, 5 86.95(n)1
89.47(a)1
  X (59.10 cM)5
670621  NM_001082412.21  NP_001075881.11 
 1369811165 
lizard
(Anolis carolinensis)
Reptilia SLC25A536
Uncharacterized protein
47(a)
1 ↔ 1
GL343686.1(65934-71319)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ODC16
ODC26
Mitochondrial inner membrane transporter, exports ...
Mitochondrial inner membrane transporter, exports ...
20(a)
18(a)
many ↔ many
many ↔ many
XVI(298571-299503)
XV(758330-759253)


ENSEMBL Gene Tree for SLC25A53 (if available)
TreeFam Gene Tree for SLC25A53 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SLC25A53 gene
LOC4941412  SLC25A522  SLC25A512  
2 SIMAP similar genes for SLC25A53 using alignment to 1 protein entry:     S2553_HUMAN:
SLC25A51    SLC25A52

SLC25A53 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for SLC25A53
PGOHUM00000241931


(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/548 SNPs in SLC25A53 are shown (see all 548)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1890999131,2
--103343448(+) AAAAAA/TTTTTT 1 -- ds50010--------
rs672455481,2
--103343449(+) AAAAAA/TTTTTT 1 -- ds50010--------
rs1446513261,2
C--103343720(+) ACATGC/TCCTCA 1 -- ds50010--------
rs1866616781,2
--103344187(+) GGTAAA/G/TCTGTA 2 -- ut310--------
rs1386155181,2
--103344391(+) ACAAAA/CGTCAG 1 -- ut310--------
rs1894938441,2
--103344446(+) TGGGGA/GGAGAA 1 -- ut310--------
rs59629731,2
C,F,H--103344725(+) TTGTTT/GCTGAT 1 -- ut317Minor allele frequency- G:0.02NS NA 944
rs1810371011,2
--103344954(+) AATATA/GTATCA 1 -- ut310--------
rs1859250971,2
--103345237(+) AGTTGA/GCAGGT 1 -- ut310--------
rs1925071851,2
--103345431(+) TTTAGC/TTTTAA 1 -- ut310--------

HapMap Linkage Disequilibrium report for SLC25A53 (103343898 - 103401708 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for SLC25A53: --
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing SLC25A53
DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A53

(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.)
About This Section
  --

(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)
About This Section

PubMed articles for SLC25A53 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SLC25A53)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
  2. The mitochondrial transporter family SLC25: identifica tion, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (2013)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 401612 HGNC: 31894 AceView: LOC401612 Ensembl:ENSG00000176274 euGenes: HUgn401612
ECgene: SLC25A53 H-InvDB: SLC25A53

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for SLC25A53 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for SLC25A53 gene:
Search GeneIP for patents involving SLC25A53

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 SwitchGear Promoter luciferase reporter plasmids for SLC25A53
 Search ThermoFisher Antibodies for SLC25A53
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A53
 inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC25A53
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC25A53
Customized:
 lentivirus for stable overexpression of SLC25A53
 lentivirus expression plasmids for stable overexpression of SLC25A53
 adenovirus for overexpression of SLC25A53
 LSBio Antibodies in human, mouse, rat for SLC25A53
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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