The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this p... See more...

Aliases for SLC25A3 Gene

Aliases for SLC25A3 Gene

  • Solute Carrier Family 25 Member 3 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier), Member 3 2 3
  • Phosphate Carrier Protein, Mitochondrial 3 4
  • Phosphate Transport Protein 3 4
  • PHC 3 4
  • PTP 3 4
  • OK/SW-Cl.48 3
  • SLC25A3 5

External Ids for SLC25A3 Gene

Previous HGNC Symbols for SLC25A3 Gene

  • PHC

Previous GeneCards Identifiers for SLC25A3 Gene

  • GC12P098290
  • GC12P099491
  • GC12P098920
  • GC12P097489
  • GC12P096048
  • GC12P098997

Summaries for SLC25A3 Gene

Entrez Gene Summary for SLC25A3 Gene

  • The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC25A3 Gene

SLC25A3 (Solute Carrier Family 25 Member 3) is a Protein Coding gene. Diseases associated with SLC25A3 include Mitochondrial Phosphate Carrier Deficiency and Alternating Hemiplegia Of Childhood. Among its related pathways are C-MYB transcription factor network. An important paralog of this gene is SLC25A28.

UniProtKB/Swiss-Prot Summary for SLC25A3 Gene

  • Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP).

Gene Wiki entry for SLC25A3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A3 Gene

Genomics for SLC25A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A3 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
GH12J098592 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.3 +0.9 910 4.6 SP1 HNRNPL CREB1 PRDM10 REST ZNF629 RFX1 SOX13 NFKBIZ ZNF692 SLC25A3 HSALNG0093396 lnc-IKBIP-9 TMPO IKBIP APAF1 MN309591
GH12J098643 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 18.2 +51.5 51510 5 SP1 HNRNPL PRDM10 ZNF629 REST ZNF512 IKZF1 KDM1A POLR2A ZNF692 IKBIP APAF1 FJ601684-083 SLC25A3 TMPO PPIAP8 piR-35674-113
GH12J098502 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 -89.8 -89825 3.1 ZNF221 GATAD2A TEAD4 ZNF629 ZNF512 LEF1 IKZF1 ZNF692 NFRKB RCOR2 LINC02453 TRW-CCA4-1 TRD-GTC1-1 TMPO SLC9A7P1 SLC25A3 lnc-TMPO-1
GH12J098635 Enhancer 0.7 ENCODE 11 +42.6 42594 0.9 ZNF629 PRDM1 ZNF600 PKNOX1 PAX8 JUND ZXDB ZEB1 CEBPB ZSCAN5C PPIAP8 SLC25A3 SNORA53 IKBIP FJ601684-083 lnc-IKBIP-1
GH12J098605 Enhancer 0.7 Ensembl ENCODE 7.3 +13.4 13387 2.4 RAD21 CEBPA CEBPB ZFHX2 CTCF SMC3 SPI1 ZNF654 BCL6 MAX lnc-IKBIP-1 IKBIP APAF1 SLC25A3 FJ601684-083
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A3

Top Transcription factor binding sites by QIAGEN in the SLC25A3 gene promoter:
  • AML1a
  • ATF-2
  • E47
  • Egr-1
  • GATA-1
  • GATA-2
  • GATA-3
  • Pax-5

Genomic Locations for SLC25A3 Gene

Genomic Locations for SLC25A3 Gene
chr12:98,593,591-98,606,379
(GRCh38/hg38)
Size:
12,789 bases
Orientation:
Plus strand
chr12:98,987,369-98,995,946
(GRCh37/hg19)
Size:
8,578 bases
Orientation:
Plus strand

Genomic View for SLC25A3 Gene

Genes around SLC25A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A3 Gene

Proteins for SLC25A3 Gene

  • Protein details for SLC25A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00325-MPCP_HUMAN
    Recommended name:
    Phosphate carrier protein, mitochondrial
    Protein Accession:
    Q00325
    Secondary Accessions:
    • B3KS34
    • Q7Z7N7
    • Q96A03

    Protein attributes for SLC25A3 Gene

    Size:
    362 amino acids
    Molecular mass:
    40095 Da
    Quaternary structure:
    • Interacts with PPIF; the interaction is impaired by CsA.

    Alternative splice isoforms for SLC25A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A3 Gene

Post-translational modifications for SLC25A3 Gene

  • Ubiquitination at Lys99, Lys101, Lys112, Lys121, Lys206, Lys209, Lys214, Lys218, Lys247, and Lys252
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC25A3 Gene

Domains & Families for SLC25A3 Gene

Gene Families for SLC25A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A3 Gene

Suggested Antigen Peptide Sequences for SLC25A3 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 3 (MPCP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00325

UniProtKB/Swiss-Prot:

MPCP_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 SLC25A3: view

Function for SLC25A3 Gene

Molecular function for SLC25A3 Gene

UniProtKB/Swiss-Prot Function:
Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP).

Phenotypes From GWAS Catalog for SLC25A3 Gene

Gene Ontology (GO) - Molecular Function for SLC25A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005315 inorganic phosphate transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0015317 phosphate:proton symporter activity TAS 8144629
GO:0044877 protein-containing complex binding IDA 23209302
genes like me logo Genes that share ontologies with SLC25A3: view
genes like me logo Genes that share phenotypes with SLC25A3: view

Human Phenotype Ontology for SLC25A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A3 Gene

MGI Knock Outs for SLC25A3:
  • Slc25a3 Slc25a3<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A3 Gene

Localization for SLC25A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A3 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 SLC25A3 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
extracellular 4
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA --
GO:0005743 mitochondrial inner membrane TAS 8144629
GO:0005887 integral component of plasma membrane TAS 8144629
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A3: view

Pathways & Interactions for SLC25A3 Gene

PathCards logo

SuperPathways for SLC25A3 Gene

genes like me logo Genes that share pathways with SLC25A3: view

Pathways by source for SLC25A3 Gene

1 BioSystems pathway for SLC25A3 Gene

Gene Ontology (GO) - Biological Process for SLC25A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035435 phosphate ion transmembrane transport IBA 21873635
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A3: view

No data available for SIGNOR curated interactions for SLC25A3 Gene

Drugs & Compounds for SLC25A3 Gene

(10) Drugs for SLC25A3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for SLC25A3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with SLC25A3: view

Transcripts for SLC25A3 Gene

mRNA/cDNA for SLC25A3 Gene

4 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: -
SP6: - - - -
SP7: - - - -
SP8: -
SP9:

Relevant External Links for SLC25A3 Gene

GeneLoc Exon Structure for
SLC25A3

Expression for SLC25A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A3 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.6).

Protein differential expression in normal tissues from HIPED for SLC25A3 Gene

This gene is overexpressed in Nasal epithelium (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A3 Gene



Protein tissue co-expression partners for SLC25A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A3

SOURCE GeneReport for Unigene cluster for SLC25A3 Gene:

Hs.290404

Evidence on tissue expression from TISSUES for SLC25A3 Gene

  • Nervous system(5)
  • Lung(5)
  • Muscle(4.9)
  • Liver(4.9)
  • Skin(4.9)
  • Heart(4.7)
  • Blood(4.6)
  • Eye(4.6)
  • Pancreas(4.4)
  • Intestine(4.4)
  • Kidney(4.2)
  • Bone(3.2)
  • Stomach(3.1)
  • Bone marrow(2.8)
  • Adrenal gland(2.7)
  • Thyroid gland(2.6)
  • Spleen(2.5)
  • Lymph node(2.4)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
  • lung
General:
  • skin
genes like me logo Genes that share expression patterns with SLC25A3: view

No data available for mRNA Expression by UniProt/SwissProt for SLC25A3 Gene

Orthologs for SLC25A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A3 30 31
  • 99.91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A3 31
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A3 31
  • 90 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A3 30 31
  • 89.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a3 30
  • 89.14 (n)
Cow
(Bos Taurus)
Mammalia SLC25A3 30 31
  • 89.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc25a3 30 17 31
  • 88.52 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SLC25A3 30 31
  • 80.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A3 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a3 30
  • 76.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc25a3a 31
  • 73 (a)
OneToMany
slc25a3b 30 31
  • 72.46 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Mpcp 31 32
  • 67 (a)
OneToMany
CG9090 30 31 32
  • 62.78 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F01G4.6 30 31
  • 62.85 (n)
OneToMany
C14C10.1 31 32
  • 56 (a)
OneToMany
T05F1.8 31 32
  • 55 (a)
OneToMany
C33F10.12 31 32
  • 55 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIC2 31 33
  • 47 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PHT3;2 30
  • 58.28 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5537 30
Soybean
(Glycine max)
eudicotyledons Gma.585 30
Rice
(Oryza sativa)
Liliopsida Os09g0454600 30
  • 54.1 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.9605 30
Wheat
(Triticum aestivum)
Liliopsida Ta.1412 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7863 31
  • 73 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Species where no ortholog for SLC25A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SLC25A3 Gene

ENSEMBL:
Gene Tree for SLC25A3 (if available)
TreeFam:
Gene Tree for SLC25A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A3: view image

Paralogs for SLC25A3 Gene

(1) SIMAP similar genes for SLC25A3 Gene using alignment to 7 proteins:

  • MPCP_HUMAN
  • F8VVM2_HUMAN
  • F8VWQ0_HUMAN
  • F8VWR4_HUMAN
  • F8VY00_HUMAN
  • F8VYH5_HUMAN
  • F8VZL5_HUMAN

Pseudogenes.org Pseudogenes for SLC25A3 Gene

genes like me logo Genes that share paralogs with SLC25A3: view

Variants for SLC25A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
675485 Benign: not provided 98,595,625(+) A/G INTRON_VARIANT
675592 Likely Benign: not provided 98,593,487(+) G/A
678043 Benign: not provided 98,600,376(+) G/A INTRON_VARIANT
678915 Likely Benign: not provided 98,594,206(+) C/G INTRON_VARIANT
679102 Benign: not provided 98,600,354(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC25A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC25A3 Gene

Variant ID Type Subtype PubMed ID
nsv559918 CNV loss 21841781
nsv7234 OTHER inversion 18451855

Variation tolerance for SLC25A3 Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A3 Gene

Human Gene Mutation Database (HGMD)
SLC25A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A3 Gene

Disorders for SLC25A3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC25A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial phosphate carrier deficiency
  • mpcd
alternating hemiplegia of childhood
  • ahc
paranoid personality disorder
ivic syndrome
  • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
hyperpigmentation with or without hypopigmentation, familial progressive
  • fphh
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MPCP_HUMAN
  • Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]: Fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. {ECO:0000269 PubMed:17273968}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A3: view

No data available for Genatlas for SLC25A3 Gene

Publications for SLC25A3 Gene

  1. The sequences of human and bovine genes of the phosphate carrier from mitochondria contain evidence of alternatively spliced forms. (PMID: 8144629) Dolce V … Walker JE (The Journal of biological chemistry 1994) 3 4 23
  2. Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. (PMID: 8168843) Jabs EW … Pedersen PL (Human genetics 1994) 2 3 23
  3. Nucleotide sequence of a human heart cDNA encoding the mitochondrial phosphate carrier. (PMID: 1777677) Dolce V … Palmieri F (DNA sequence : the journal of DNA sequencing and mapping 1991) 3 4 23
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (PMID: 17273968) Mayr JA … Sperl W (American journal of human genetics 2007) 3 4

Products for SLC25A3 Gene

  • Signalway Proteins for SLC25A3

Sources for SLC25A3 Gene