SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] See more...

Aliases for SLC25A44 Gene

Aliases for SLC25A44 Gene

  • Solute Carrier Family 25 Member 44 2 3 4 5
  • KIAA0446 2 4
  • Solute Carrier Family 25, Member 44 2
  • SLC25A44 5
  • FLJ90431 2

External Ids for SLC25A44 Gene

Previous GeneCards Identifiers for SLC25A44 Gene

  • GC01P154432
  • GC01P127525

Summaries for SLC25A44 Gene

Entrez Gene Summary for SLC25A44 Gene

  • SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC25A44 Gene

SLC25A44 (Solute Carrier Family 25 Member 44) is a Protein Coding gene. Diseases associated with SLC25A44 include Epileptic Encephalopathy, Early Infantile, 39 and Koolen-De Vries Syndrome. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot Summary for SLC25A44 Gene

  • Mitochondrial solute transporter which transports branched-chain amino acid (BCAA; valine, leucine and isoleucine) into mitochondria in brown adipose tissue (BAT) (By similarity). BAT is involved in BCAA catabolism and actively utilizes BCAA in the mitochondria for thermogenesis (PubMed:31435015).

Additional gene information for SLC25A44 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A44 Gene

Genomics for SLC25A44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A44 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A44

Top Transcription factor binding sites by QIAGEN in the SLC25A44 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • HOXA5
  • MZF-1
  • NF-kappaB
  • NF-kappaB1
  • TBP

Genomic Locations for SLC25A44 Gene

Genomic Locations for SLC25A44 Gene
chr1:156,193,932-156,212,796
(GRCh38/hg38)
Size:
18,865 bases
Orientation:
Plus strand
chr1:156,163,730-156,182,587
(GRCh37/hg19)
Size:
18,858 bases
Orientation:
Plus strand

Genomic View for SLC25A44 Gene

Genes around SLC25A44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A44 Gene

Proteins for SLC25A44 Gene

  • Protein details for SLC25A44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96H78-S2544_HUMAN
    Recommended name:
    Solute carrier family 25 member 44
    Protein Accession:
    Q96H78
    Secondary Accessions:
    • O75034

    Protein attributes for SLC25A44 Gene

    Size:
    314 amino acids
    Molecular mass:
    35392 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA32291.3; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC25A44 Gene

Post-translational modifications for SLC25A44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC25A44 Gene

Domains & Families for SLC25A44 Gene

Gene Families for SLC25A44 Gene

Protein Domains for SLC25A44 Gene

Suggested Antigen Peptide Sequences for SLC25A44 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53029, highly similar to Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), mRNA (B4DET2_HUMAN)
  • Solute carrier family 25 member 44 (S2544_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96H78

UniProtKB/Swiss-Prot:

S2544_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 SLC25A44: view

Function for SLC25A44 Gene

Molecular function for SLC25A44 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial solute transporter which transports branched-chain amino acid (BCAA; valine, leucine and isoleucine) into mitochondria in brown adipose tissue (BAT) (By similarity). BAT is involved in BCAA catabolism and actively utilizes BCAA in the mitochondria for thermogenesis (PubMed:31435015).
UniProtKB/Swiss-Prot Induction:
Induction by cold exposure in brown adipose tissues.

Phenotypes From GWAS Catalog for SLC25A44 Gene

Gene Ontology (GO) - Molecular Function for SLC25A44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0015658 branched-chain amino acid transmembrane transporter activity ISS --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A44: view
genes like me logo Genes that share phenotypes with SLC25A44: view

Animal Model Products

CRISPR Products

miRNA for SLC25A44 Gene

miRTarBase miRNAs that target SLC25A44

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A44

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A44 Gene

Localization for SLC25A44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A44 Gene

Mitochondrion 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 SLC25A44 gene
Compartment Confidence
mitochondrion 4
cytoskeleton 3
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SLC25A44: view

Pathways & Interactions for SLC25A44 Gene

PathCards logo

SuperPathways for SLC25A44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006865 amino acid transport IEA --
GO:0009083 branched-chain amino acid catabolic process IMP 31435015
GO:0015803 branched-chain amino acid transport ISS --
GO:0015867 ATP transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A44: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A44 Gene

Drugs & Compounds for SLC25A44 Gene

No Compound Related Data Available

Transcripts for SLC25A44 Gene

mRNA/cDNA for SLC25A44 Gene

9 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 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 SLC25A44

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A44 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - - - - -
SP2: - - - - - -
SP3: -
SP4: - - - - - - - - - -
SP5:
SP6: -
SP7: - - - - - - - - - - -
SP8: - -
SP9:
SP10: - -

Relevant External Links for SLC25A44 Gene

GeneLoc Exon Structure for
SLC25A44

Expression for SLC25A44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A44 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for SLC25A44 Gene

This gene is overexpressed in Plasma (62.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A44 Gene



Protein tissue co-expression partners for SLC25A44 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A44

SOURCE GeneReport for Unigene cluster for SLC25A44 Gene:

Hs.532375

Evidence on tissue expression from TISSUES for SLC25A44 Gene

  • Nervous system(5)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with SLC25A44: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A44 Gene

Orthologs for SLC25A44 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A44 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A44 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A44 30 31
  • 92.99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A44 30 31
  • 92.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a44 30
  • 90.13 (n)
Mouse
(Mus musculus)
Mammalia Slc25a44 30 17 31
  • 90.02 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A44 31
  • 77 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 23 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a44 30
  • 76.36 (n)
Str.7069 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3595 30
Zebrafish
(Danio rerio)
Actinopterygii slc25a44a 31
  • 71 (a)
OneToMany
slc25a44b 30 31
  • 70.06 (n)
OneToMany
Dr.26870 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3005 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5805 30 31
  • 52.18 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003208 30
  • 51.69 (n)
Worm
(Caenorhabditis elegans)
Secernentea F13G3.7 30 31
  • 46.62 (n)
OneToMany
Y43C5B.3 31
  • 29 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 31
  • 8 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G15640 30
  • 46.34 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0754800 30
  • 49.2 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for SLC25A44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC25A44 Gene

ENSEMBL:
Gene Tree for SLC25A44 (if available)
TreeFam:
Gene Tree for SLC25A44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A44: view image

Paralogs for SLC25A44 Gene

Variants for SLC25A44 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A44 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11576750 - p.Ser52Ile

Additional dbSNP identifiers (rs#s) for SLC25A44 Gene

Variation tolerance for SLC25A44 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC25A44 Gene

Disorders for SLC25A44 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC25A44 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A44

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 SLC25A44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A44 Gene

Publications for SLC25A44 Gene

  1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4
  2. BCAA catabolism in brown fat controls energy homeostasis through SLC25A44. (PMID: 31435015) Yoneshiro T … Kajimura S (Nature 2019) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4

Products for SLC25A44 Gene

Sources for SLC25A44 Gene