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    Slc25a44 solute carrier family 25, member 44 [ Mus musculus (house mouse) ]

    Gene ID: 229517, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Slc25a44provided by MGI
    Official Full Name
    solute carrier family 25, member 44provided by MGI
    Primary source
    MGI:MGI:2444391
    See related
    Ensembl:ENSMUSG00000050144 AllianceGenome:MGI:2444391
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    6720482A19; B430110G05Rik
    Summary
    Enables branched-chain amino acid transmembrane transporter activity. Involved in branched-chain amino acid catabolic process; branched-chain amino acid transport; and regulation of cold-induced thermogenesis. Located in mitochondrion. Is expressed in several structures, including central nervous system; metanephros; and retina. Orthologous to human SLC25A44 (solute carrier family 25 member 44). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in mammary gland adult (RPKM 24.5), subcutaneous fat pad adult (RPKM 23.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc25a44 in Genome Data Viewer
    Location:
    3 F1; 3 38.82 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (88317801..88334303, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (88410494..88425141, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene bone gamma carboxyglutamate protein Neighboring gene polyamine-modulated factor 1 Neighboring gene STARR-positive B cell enhancer ABC_E2076 Neighboring gene 60S ribosomal protein L21 pseudogene Neighboring gene sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A Neighboring gene microRNA 7011

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Metabolic flexibility via mitochondrial BCAA carrier SLC25A44 is required for optimal fever. Yoneshiro T, et al. Elife, 2021 May 4. PMID 33944778, Free PMC Article
    2. Identification of genes whose expression is altered by obesity throughout the arterial tree. Padilla J, et al. Physiol Genomics, 2014 Nov 15. PMID 25271210, Free PMC Article
    3. Physiological and pathological roles of mitochondrial SLC25 carriers. Gutiérrez-Aguilar M, et al. Biochem J, 2013 Sep 15. PMID 23988125, Free PMC Article
    4. BCAA catabolism in brown fat controls energy homeostasis through SLC25A44. Yoneshiro T, et al. Nature, 2019 Aug. PMID 31435015, Free PMC Article
    5. The European renal genome project: an integrated approach towards understanding the genetics of kidney development and disease. Willnow T, et al. Organogenesis, 2005 Apr. PMID 19521566, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Metabolic flexibility via mitochondrial BCAA carrier SLC25A44 is required for optimal fever.
      Title: Metabolic flexibility via mitochondrial BCAA carrier SLC25A44 is required for optimal fever.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables branched-chain amino acid transmembrane transporter activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables branched-chain amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables branched-chain amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in branched-chain amino acid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in branched-chain amino acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in branched-chain amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in branched-chain amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within branched-chain amino acid transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    solute carrier family 25 member 44

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145876.2 → NP_001139348.1  solute carrier family 25 member 44 isoform b

      See identical proteins and their annotated locations for NP_001139348.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational initiation codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 4 encode the same isoform (b).
      Source sequence(s)
      AC102388, CJ075826
      Consensus CDS
      CCDS79943.1
      UniProtKB/Swiss-Prot
      Q7TSU9, Q8BGF9
      UniProtKB/TrEMBL
      Q3TE12
      Related
      ENSMUSP00000141780.2, ENSMUST00000195657.6
      Conserved Domains (2) summary
      PTZ00168
      Location:13 → 283
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:105 → 214
      Mito_carr; Mitochondrial carrier protein

    2. NM_001145877.2 → NP_001139349.1  solute carrier family 25 member 44 isoform c

      See identical proteins and their annotated locations for NP_001139349.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK032960, AK134914, AK165159, BY249366, BY639336
      Consensus CDS
      CCDS50949.1
      UniProtKB/TrEMBL
      Q05DJ3, Q3TNN4
      Related
      ENSMUSP00000130075.2, ENSMUST00000168755.7
      Conserved Domains (1) summary
      pfam00153
      Location:124 → 223
      Mito_carr; Mitochondrial carrier protein

    3. NM_001281795.2 → NP_001268724.1  solute carrier family 25 member 44 isoform b

      See identical proteins and their annotated locations for NP_001268724.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational initiation codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 4 encode the same isoform (b).
      Source sequence(s)
      AC102388, AK083470, BY285266, BY639336
      Consensus CDS
      CCDS79943.1
      UniProtKB/Swiss-Prot
      Q7TSU9, Q8BGF9
      UniProtKB/TrEMBL
      Q3TE12
      Related
      ENSMUSP00000141465.2, ENSMUST00000193433.6
      Conserved Domains (2) summary
      PTZ00168
      Location:13 → 283
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:105 → 214
      Mito_carr; Mitochondrial carrier protein

    4. NM_001357749.1 → NP_001344678.1  solute carrier family 25 member 44 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC102388
      UniProtKB/TrEMBL
      Q05DJ3
      Conserved Domains (1) summary
      pfam00153
      Location:124 → 223
      Mito_carr; Mitochondrial carrier protein

    5. NM_178696.5 → NP_848811.2  solute carrier family 25 member 44 isoform a

      See identical proteins and their annotated locations for NP_848811.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represent the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK134914, BY249366, BY639336
      Consensus CDS
      CCDS50950.1
      UniProtKB/TrEMBL
      Q3TE12, Q3TMC4
      Related
      ENSMUSP00000057871.7, ENSMUST00000057935.9
      Conserved Domains (2) summary
      PTZ00168
      Location:32 → 302
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:124 → 233
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      88317801..88334303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252574.2 → XP_030108434.1  solute carrier family 25 member 44 isoform X2

      UniProtKB/TrEMBL
      Q05DJ3
      Conserved Domains (1) summary
      pfam00153
      Location:108 → 204
      Mito_carr; Mitochondrial carrier protein

    2. XM_030252575.2 → XP_030108435.1  solute carrier family 25 member 44 isoform X2

      UniProtKB/TrEMBL
      Q05DJ3
      Conserved Domains (1) summary
      pfam00153
      Location:108 → 204
      Mito_carr; Mitochondrial carrier protein

    3. XM_036163051.1 → XP_036018944.1  solute carrier family 25 member 44 isoform X1

      UniProtKB/TrEMBL
      Q05DJ3
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGF9.1 GenPept UniProtKB/Swiss-Prot:Q8BGF9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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