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    SLC25A44 solute carrier family 25 member 44 [ Homo sapiens (human) ]

    Gene ID: 9673, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC25A44provided by HGNC
    Official Full Name
    solute carrier family 25 member 44provided by HGNC
    Primary source
    HGNC:HGNC:29036
    See related
    Ensembl:ENSG00000160785 MIM:610824; AllianceGenome:HGNC:29036
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in brain (RPKM 13.3), kidney (RPKM 10.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A44 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156194104..156212796)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155332555..155351250)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156163895..156182587)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1849 Neighboring gene semaphorin 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1850 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:156131887-156132038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156146693-156147195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156149713-156150215 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156151223-156151726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156151727-156152229 Neighboring gene uncharacterized LOC124900449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1856 Neighboring gene PMF1-BGLAP readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1422 Neighboring gene polyamine modulated factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1857 Neighboring gene BGLAP promoter region Neighboring gene bone gamma-carboxyglutamate protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome Evolutionary Dynamics Meets Functional Genomics: A Case Story on the Identification of SLC25A44. Darbani B. Int J Mol Sci, 2021 May 26. PMID 34073512, Free PMC Article
    2. The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44. Goldstein O, et al. Mol Genet Metab, 2021 May. PMID 33762134
    3. Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Woo D, et al. Am J Hum Genet, 2014 Apr 3. PMID 24656865, 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. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Haitina T, et al. Genomics, 2006 Dec. PMID 16949250

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.
      Title: The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.
    2. Genome Evolutionary Dynamics Meets Functional Genomics: A Case Story on the Identification of SLC25A44.
      Title: Genome Evolutionary Dynamics Meets Functional Genomics: A Case Story on the Identification of SLC25A44.
    3. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90431, KIAA0446

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in 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 transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in branched-chain amino acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    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_001286184.2 → NP_001273113.1  solute carrier family 25 member 44 isoform 1

      See identical proteins and their annotated locations for NP_001273113.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB007915, AL135927, BC008843
      Consensus CDS
      CCDS72943.1
      UniProtKB/TrEMBL
      B4DGC4, E9PGQ0
      Related
      ENSP00000407560.3, ENST00000423538.6
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    2. NM_001377385.1 → NP_001364314.1  solute carrier family 25 member 44 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS72943.1
      UniProtKB/TrEMBL
      B4DGC4, E9PGQ0
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    3. NM_001377386.1 → NP_001364315.1  solute carrier family 25 member 44 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS1133.1
      UniProtKB/Swiss-Prot
      O75034, Q96H78
      UniProtKB/TrEMBL
      B4DGC4
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    4. NM_001377387.1 → NP_001364316.1  solute carrier family 25 member 44 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS1133.1
      UniProtKB/Swiss-Prot
      O75034, Q96H78
      UniProtKB/TrEMBL
      B4DGC4
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    5. NM_001377388.1 → NP_001364317.1  solute carrier family 25 member 44 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS1133.1
      UniProtKB/Swiss-Prot
      O75034, Q96H78
      UniProtKB/TrEMBL
      B4DGC4
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    6. NM_001377389.1 → NP_001364318.1  solute carrier family 25 member 44 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL135927

    7. NM_001377390.1 → NP_001364319.1  solute carrier family 25 member 44 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL135927

    8. NM_014655.4 → NP_055470.1  solute carrier family 25 member 44 isoform 2

      See identical proteins and their annotated locations for NP_055470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL135927, BC008843
      Consensus CDS
      CCDS1133.1
      UniProtKB/Swiss-Prot
      O75034, Q96H78
      UniProtKB/TrEMBL
      B4DGC4
      Related
      ENSP00000352497.4, ENST00000359511.5
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_104408.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL135927, BC008843, HY053859

    2. NR_104411.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK309678, BC008843

    3. NR_104412.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK309690, AL135927, BC008843

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      156194104..156212796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435097.1 → XP_047291053.1  solute carrier family 25 member 44 isoform X1

      UniProtKB/TrEMBL
      E9PGQ0
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    2. XM_047435098.1 → XP_047291054.1  solute carrier family 25 member 44 isoform X2

      UniProtKB/Swiss-Prot
      O75034, Q96H78

    3. XM_047435101.1 → XP_047291057.1  solute carrier family 25 member 44 isoform X2

      UniProtKB/Swiss-Prot
      O75034, Q96H78

    4. XM_011510180.2 → XP_011508482.1  solute carrier family 25 member 44 isoform X1

      See identical proteins and their annotated locations for XP_011508482.1

      UniProtKB/TrEMBL
      B4DGC4, E9PGQ0
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    5. XM_047435102.1 → XP_047291058.1  solute carrier family 25 member 44 isoform X3

    6. XM_047435103.1 → XP_047291059.1  solute carrier family 25 member 44 isoform X3

    7. XM_011510181.3 → XP_011508483.1  solute carrier family 25 member 44 isoform X1

      See identical proteins and their annotated locations for XP_011508483.1

      UniProtKB/TrEMBL
      B4DGC4, E9PGQ0
      Conserved Domains (1) summary
      pfam00153
      Location:105 → 204
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155332555..155351250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339745.1 → XP_054195720.1  solute carrier family 25 member 44 isoform X1

      UniProtKB/TrEMBL
      E9PGQ0

    2. XM_054339746.1 → XP_054195721.1  solute carrier family 25 member 44 isoform X2

      UniProtKB/Swiss-Prot
      O75034, Q96H78

    3. XM_054339747.1 → XP_054195722.1  solute carrier family 25 member 44 isoform X2

      UniProtKB/Swiss-Prot
      O75034, Q96H78

    4. XM_054339743.1 → XP_054195718.1  solute carrier family 25 member 44 isoform X1

      UniProtKB/TrEMBL
      E9PGQ0

    5. XM_054339748.1 → XP_054195723.1  solute carrier family 25 member 44 isoform X3

    6. XM_054339749.1 → XP_054195724.1  solute carrier family 25 member 44 isoform X3

    7. XM_054339744.1 → XP_054195719.1  solute carrier family 25 member 44 isoform X1

      UniProtKB/TrEMBL
      E9PGQ0

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135672.1: Suppressed sequence

      Description
      NM_001135672.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96H78.1 GenPept UniProtKB/Swiss-Prot:Q96H78

    Gene LinkOut

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

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