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Aliases for SLC25A47 Gene

Aliases for SLC25A47 Gene

  • Solute Carrier Family 25 Member 47 2 3 4 5
  • Hepatocellular Carcinoma Down-Regulated Mitochondrial Carrier Protein 3 4
  • C14orf68 3 4
  • HDMCP 3 4
  • Hepatocellular Carcinoma-Downregulated Mitochondrial Carrier Protein 3
  • HCC-Down-Regulated Mitochondrial Carrier Protein 3
  • Chromosome 14 Open Reading Frame 68 2
  • Solute Carrier Family 25, Member 47 2
  • HMFN1655 3

External Ids for SLC25A47 Gene

Previous HGNC Symbols for SLC25A47 Gene

  • C14orf68

Previous GeneCards Identifiers for SLC25A47 Gene

  • GC14P101010
  • GC14P080971
  • GC14P101022
  • GC14P101033
  • GC14P101047
  • GC14P101077
  • GC14P101114
  • GC14P101163
  • GC14P101225

Summaries for SLC25A47 Gene

Entrez Gene Summary for SLC25A47 Gene

  • This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

GeneCards Summary for SLC25A47 Gene

SLC25A47 (Solute Carrier Family 25 Member 47) is a Protein Coding gene. An important paralog of this gene is SLC25A45.

UniProtKB/Swiss-Prot for SLC25A47 Gene

  • Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential.

Additional gene information for SLC25A47 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A47 Gene

Genomics for SLC25A47 Gene

GeneHancer (GH) Regulatory Elements for SLC25A47 Gene

Promoters and enhancers for SLC25A47 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J100323 Promoter 1.1 EPDnew 600.7 0.0 -17 0.1 SP1 PPARG KAT8 RXRA GATAD2A NFKBIZ RXRB FOXA2 GABPA JUND SLC25A47 RN7SL523P GC14M100323
GH14J100325 Enhancer 1 Ensembl ENCODE 600.7 +1.7 1664 3.2 SP1 KAT8 RXRA ZIC2 GATAD2A NFKBIZ RXRB FOXA2 EGR1 ZBTB26 SLC25A47 WARS WDR25 BEGAIN SLC25A29 ENSG00000258666 GC14M100323
GH14J100321 Enhancer 0.5 Ensembl 600.7 -1.4 -1436 0.6 SP1 RXRA YY1 POLR2A HNF4A SMAD4 SLC25A47 WARS RN7SL523P
GH14J100405 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +85.1 85054 5.8 ELF3 CBFA2T2 CEBPG TFE3 TRIM24 SP7 PRDM1 ZNF644 ZNF639 SMARCA4 LOC105370664 ENSG00000258620 WDR25 WARS SLC25A47 GC14P104074 HMGN1P25
GH14J100284 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 11.2 -38.1 -38137 2.3 MTA3 ZFX ZNF148 NKRF POLR2A ZNF687 ZSCAN21 ZBTB7A SP7 KLF14 WARS CCNK WDR25 SLC25A47 PIR46113 GC14P100279 ENSG00000259052 SLC25A29
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A47 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC25A47 Gene

Genomic Locations for SLC25A47 Gene
chr14:100,323,337-100,330,378
(GRCh38/hg38)
Size:
7,042 bases
Orientation:
Plus strand
chr14:100,789,674-100,796,715
(GRCh37/hg19)
Size:
7,042 bases
Orientation:
Plus strand

Genomic View for SLC25A47 Gene

Genes around SLC25A47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A47 Gene

Proteins for SLC25A47 Gene

  • Protein details for SLC25A47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6Q0C1-S2547_HUMAN
    Recommended name:
    Solute carrier family 25 member 47
    Protein Accession:
    Q6Q0C1
    Secondary Accessions:
    • B2RP39
    • Q68CL2
    • Q6PZD8
    • Q86U14

    Protein attributes for SLC25A47 Gene

    Size:
    308 amino acids
    Molecular mass:
    33435 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD38636.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=CAD62588.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC25A47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A47 Gene

Post-translational modifications for SLC25A47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A47 Gene

Domains & Families for SLC25A47 Gene

Gene Families for SLC25A47 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A47 Gene

Suggested Antigen Peptide Sequences for SLC25A47 Gene

GenScript: Design optimal peptide antigens:
  • Hepatocellular carcinoma down-regulated mitochondrial carrier protein (S2547_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6Q0C1

UniProtKB/Swiss-Prot:

S2547_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A47: view

Function for SLC25A47 Gene

Molecular function for SLC25A47 Gene

UniProtKB/Swiss-Prot Function:
Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential.
UniProtKB/Swiss-Prot Induction:
Down-regulated in hepatocarcinoma.

Phenotypes From GWAS Catalog for SLC25A47 Gene

Gene Ontology (GO) - Molecular Function for SLC25A47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015227 acyl carnitine transmembrane transporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A47: view
genes like me logo Genes that share phenotypes with SLC25A47: view

Animal Models for SLC25A47 Gene

MGI Knock Outs for SLC25A47:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A47

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SLC25A47 - Now 50% OFF >
  • * SLC25A47 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC25A47 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC25A47 Gene

Localization for SLC25A47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A47 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A47 gene
Compartment Confidence
mitochondrion 3
extracellular 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 0
cytosol 0

Gene Ontology (GO) - Cellular Components for SLC25A47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A47: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A47 Gene

Pathways & Interactions for SLC25A47 Gene

PathCards logo

SuperPathways for SLC25A47 Gene

No Data Available

Interacting Proteins for SLC25A47 Gene

Selected Interacting proteins: Q6Q0C1-S2547_HUMAN for SLC25A47 Gene via IID

Symbol External ID(s) Details
C1QA
DIABLO

Gene Ontology (GO) - Biological Process for SLC25A47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006844 acyl carnitine transport IBA 21873635
GO:0055085 transmembrane transport IEA --
GO:1902616 acyl carnitine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A47: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A47 Gene

Drugs & Compounds for SLC25A47 Gene

No Compound Related Data Available

Transcripts for SLC25A47 Gene

mRNA/cDNA for SLC25A47 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SLC25A47 Gene

Solute carrier family 25, member 47:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SLC25A47 - Now 50% OFF >
  • * SLC25A47 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC25A47 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A47 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for SLC25A47 Gene

GeneLoc Exon Structure for
SLC25A47
ECgene alternative splicing isoforms for
SLC25A47

Expression for SLC25A47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A47 Gene

This gene is overexpressed in Liver (x52.1).

Protein differential expression in normal tissues from HIPED for SLC25A47 Gene

This gene is overexpressed in Spleen (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A47 Gene



Protein tissue co-expression partners for SLC25A47 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A47 Gene:

SLC25A47

SOURCE GeneReport for Unigene cluster for SLC25A47 Gene:

Hs.108268

mRNA Expression by UniProt/SwissProt for SLC25A47 Gene:

Q6Q0C1-S2547_HUMAN
Tissue specificity: Specifically expressed in liver.

Evidence on tissue expression from TISSUES for SLC25A47 Gene

  • Liver(4.5)
genes like me logo Genes that share expression patterns with SLC25A47: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A47 Gene

Orthologs for SLC25A47 Gene

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

Orthologs for SLC25A47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A47 35 34
  • 98.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A47 35 34
  • 87.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A47 35 34
  • 86.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a47 17 35 34
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a47 34
  • 83.23 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A47 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A47 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A47 35 34
  • 64.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A47 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a47 34
  • 57.55 (n)
zebrafish
(Danio rerio)
Actinopterygii slc25a47b 35 34
  • 58.45 (n)
OneToMany
slc25a47a 35
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5646 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07B7.10 35
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMC1 35
  • 28 (a)
ManyToMany
YMC2 35
  • 26 (a)
ManyToMany
Species where no ortholog for SLC25A47 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A47 Gene

ENSEMBL:
Gene Tree for SLC25A47 (if available)
TreeFam:
Gene Tree for SLC25A47 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A47: view image

Paralogs for SLC25A47 Gene

(10) SIMAP similar genes for SLC25A47 Gene using alignment to 2 proteins:

  • S2547_HUMAN
  • G3V374_HUMAN

Pseudogenes.org Pseudogenes for SLC25A47 Gene

genes like me logo Genes that share paralogs with SLC25A47: view

Variants for SLC25A47 Gene

Sequence variations from dbSNP and Humsavar for SLC25A47 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs193920797 uncertain-significance, Malignant tumor of prostate 100,325,815(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000164580 -- 100,329,984(+) T/A 3_prime_UTR_variant
rs1000621284 -- 100,329,823(+) C/T 3_prime_UTR_variant
rs1000881128 -- 100,321,711(+) G/A upstream_transcript_variant
rs1000904537 -- 100,326,227(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A47 Gene

Variant ID Type Subtype PubMed ID
nsv832875 CNV loss 17160897

Variation tolerance for SLC25A47 Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A47 Gene

Disorders for SLC25A47 Gene

Additional Disease Information for SLC25A47

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SLC25A47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC25A47 Gene

Publications for SLC25A47 Gene

  1. Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein. (PMID: 15322095) Tan MG … Hui KM (The Journal of biological chemistry 2004) 3 4 23 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 58
  5. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PMID: 23266187) Palmieri F (Molecular aspects of medicine 2013) 3 58

Products for SLC25A47 Gene

Sources for SLC25A47 Gene

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