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

Gene ID: 229517, updated on 5-Mar-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

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