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

Gene ID: 9673, updated on 3-Apr-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
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Genomic context

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Location:
1q22
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156194104..156212796)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155332555..155351250)
105.20220307 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 (20) 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)

Genotypes

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 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
  
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_2023_10

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

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