SLC25A47 Gene
protein-coding GIFtS: 46
GCID: GC14P101114
|
|
solute carrier family 25, member 47(Previous name: chromosome 14 open reading frame 68 )
(Previous symbol: C14orf68)
| |
Aliases
for SLC25A47 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Solute Carrier Family 25, Member 471 2 | | Chromosome 14 Open Reading Frame 681 | | C14orf681 2 3 5 | | Hepatocellular Carcinoma-Downregulated Mitochondrial Carrier Protein2 | | HDMCP2 3 5 | | Solute Carrier Family 25 Member 472 | | Hepatocellular Carcinoma Down-Regulated Mitochondrial Carrier Protein2 3 | | |
Export aliases for SLC25A47 gene to outside databasesPrevious GC identifers: GC14P101010 GC14P080971 GC14P101022 GC14P101033 GC14P101047 GC14P101077 |
Summaries
for SLC25A47 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1Function: Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces thedissipation of mitochondrial membrane potential
|
Genomic Views
for SLC25A47 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for SLC25A47
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC25A47
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A47 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q32.2 Ensembl cytogenetic band: 14q32.2 HGNC cytogenetic band: 14q32.2SLC25A47 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P101114: view genomic region
(about GC identifiers)
Start:
|
100,789,674 bp from pter |
End:
|
100,796,715 bp from pter |
Size:
|
7,042 bases |
Orientation:
|
plus strand |
|
Proteins
for SLC25A47 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1 (See
protein sequence)Recommended Name: Solute carrier family 25 member 47 Size: 308 amino acids; 33435 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAD38636.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=CAD62588.1;Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2RP39 Q68CL2 Q6PZD8 Q86U14Alternative splicing: 2 isoforms: Q6Q0C1-1 Q6Q0C1-2 Explore the universe of human proteins at neXtProt for SLC25A47: NX_Q6Q0C1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6Q0C1
SLC25A47 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_997000.2
ENSEMBL proteins: ENSP00000354886 ENSP00000451078
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
SLC25A47 for ontologies About GeneDecksing
SLC25A47 Antibody Products:
Assay Products for SLC25A47: |
Protein
Domains /
Families
for SLC25A47 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC25A47 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6Q0C1ProtoNet protein and cluster: Q6Q0C1 UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) familySimilarity: Contains 3 Solcar repeats |
Function
for SLC25A47 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1Function: Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces thedissipation of mitochondrial membrane potentialInduction: Down-regulated in hepatocarcinoma
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A47 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A47
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A47 |
1 GenomeRNAi human phenotype for SLC25A47:
|
Pathways & Interactions
for SLC25A47 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A47
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
3 Interacting proteins for SLC25A47 (ENSP000003548864) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006810 | transport |
-- | -- | | GO:0055085 | transmembrane transport |
IEA | -- |
SLC25A47 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC25A47 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SLC25A47
Search CenterWatch for drugs/clinical trials and news about SLC25A47 / S2547
|
Transcripts
for SLC25A47 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SLC25A47 gene: NM_207117.2 Unigene Cluster for SLC25A47: Solute carrier family 25, member 47 Hs.108268 [show with all ESTs]Unigene Representative Sequence: AY5694382 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000361529(uc001yhc.3 uc001yhd.3) ENST00000557052
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A47 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A47
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SLC25A47 (NM_207117) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC25A47 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A47 |
Additional cDNA sequence: AB073385.1 AK092001.1 AY569438.1 AY570298.1 BC137253.1 BC137254.1 BC144549.1 BX248260.1 4 DOTS entries: DT.99998920 DT.100643803 DT.120776516 DT.120776523 24/28 AceView cDNA sequences (see all 28): BX445867 AY569438 NM_207117 CR607410 BX248260 CR624455 AY570298 H59765 BX444082 H65661 BX450401 BX106119 AK092001 H59766 BX429963 AX747302 BX450786 BX443918 BX452434 H57059 BX447978 AB073385 AI033511 H65662
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A47 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 |
|---|
|
| SP1: | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for SLC25A47
|
Expression
for SLC25A47 gene
(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
| SLC25A47 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See SLC25A47 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC25A47
SOURCE GeneReport for Unigene cluster: Hs.108268
UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1Tissue specificity: Specifically expressed in liver
SABiosciences Custom PCR Arrays for SLC25A47
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC25A47
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC25A47 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC25A47 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC25A47 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A47 |
Orthologs
for SLC25A47 gene
(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 eukaryotes.
Orthologs for SLC25A47 gene from 6/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
SLC25A471 |
solute carrier family 25, member 47 |
64.69(n)
63.99(a) |
|
423457 XM_421367.3 XP_421367.3 |
lizard
(Anolis carolinensis) |
Reptilia |
SLC25A476 |
-- |
58(a) |
1 ↔ 1 |
GL343270.1(928413-934978) |
zebrafish
(Danio rerio) |
Actinopterygii |
slc25a47b1 |
solute carrier family 25, member 47b |
58.45(n)
57.04(a) |
|
100006442 NM_001089581.1 NP_001083050.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG56466 |
-- |
28(a) |
1 → many |
3R(23385101-23387041) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
BAC26 |
Mitochondrial substrate carrier family protein |
32(a) |
1 → many |
1(30052297-30053936) |
rice
(Oryza sativa) |
Liliopsida |
-- |
mitochondrial carrier protein, putative, expressed... |
30(a) |
1 → many |
1(6878905-6880968) |
ENSEMBL Gene Tree for SLC25A47 (if available)
TreeFam Gene Tree for SLC25A47 (if available) |
Paralogs
for SLC25A47 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SLC25A47 gene
- SLC25A452 SLC25A22 SLC25A202 SLC25A152 SLC25A482 SLC25A292
10 SIMAP similar genes for SLC25A47 using alignment to 2 protein entries: S2547_HUMAN (see all proteins):SLC25A48 FLJ00351 LOC283130 SLC25A45 SLC25A29 UCP2
SLC25A1 SLC25A11 SLC25A20 SLC25A15
SLC25A47 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for SLC25A47
PGOHUM00000261833
|
Genomic Variants
for SLC25A47 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC25A47 (100789674 - 100796715 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC25A47: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC25A47 |
|
Disorders
/ Diseases
for SLC25A47 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SLC25A47 for disorders About GeneDecksing
OMIM gene information: 609911
OMIM disorders: --
3  diseases for SLC25A47: About MalaCardshepatocellular carcinoma carcinoma hepatoblastoma
Human Genome Epidemiology (HuGE) Navigator: SLC25A47 (1 document)
Export disorders for SLC25A47 gene to outside databases
|
Publications
for SLC25A47 gene (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 SLC25A47 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SLC25A47) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein. (PubMed id 15322095)1, 2, 9 Tan M.G.K.... Hui K.M. (2004)
- Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- HDMCP uncouples yeast mitochondrial respiration and a lleviates steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels: a novel mechanism for NAFLD. (PubMed id 19303656)1 Jin X....Li Y.M. (2009)
- 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)
- 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)
|
External Searches for SLC25A47 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SLC25A47 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC25A47 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC25A47 gene(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
|
| Name | Description |
| PharmGKB entry for SLC25A47 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SLC25A47 gene:
Search GeneIP for patents involving SLC25A47
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SLC25A47 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for SLC25A47 | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC25A47 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC25A47 | | | OriGene Protein Over-expression Lysate for SLC25A47 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SLC25A47 | | OriGene 3'-UTR Clone for SLC25A47 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A47 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A47 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A47 |
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