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    SLC25A46 solute carrier family 25 member 46 [ Homo sapiens (human) ]

    Gene ID: 91137, updated on 27-Nov-2024

    Summary

    Official Symbol
    SLC25A46provided by HGNC
    Official Full Name
    solute carrier family 25 member 46provided by HGNC
    Primary source
    HGNC:HGNC:25198
    See related
    Ensembl:ENSG00000164209 MIM:610826; AllianceGenome:HGNC:25198
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCH1E; HMSN6B
    Summary
    This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in brain (RPKM 17.7), thyroid (RPKM 13.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC25A46 in Genome Data Viewer
    Location:
    5q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (110738145..110765157)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (111248730..111275743)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (110073846..110100857)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 232 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:109872134-109872982 Neighboring gene microRNA 548f-3 Neighboring gene small nucleolar RNA SNORA51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:110027790-110028290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:110076045-110076546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:110076547-110077046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22887 Neighboring gene NANOG hESC enhancer GRCh37_chr5:110167579-110168112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:110229347-110229848 Neighboring gene integrin alpha FG-GAP repeat containing 2 pseudogene Neighboring gene BCL2 associated transcription factor 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neuropathy, hereditary motor and sensory, type 6B
    MedGen: C4225302 OMIM: 616505 GeneReviews: Not available
    Compare labs
    Pontocerebellar hypoplasia, type 1E
    MedGen: C5543328 OMIM: 619303 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686G02226

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagy of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cerebellar Purkinje cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotion involved in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial membrane fission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination in peripheral nervous system IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in optic nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within respiratory chain complex IV assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mitochondrial outer membrane protein SLC25A46

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_051334.1 RefSeqGene

      Range
      5872..32022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1091

    mRNA and Protein(s)

    1. NM_001303249.3NP_001290178.1  mitochondrial outer membrane protein SLC25A46 isoform 2

      See identical proteins and their annotated locations for NP_001290178.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC008650, AK300123, BC017169, DA713164
      Consensus CDS
      CCDS78045.1
      UniProtKB/Swiss-Prot
      Q96AG3
      Related
      ENSP00000399717.2, ENST00000447245.6
      Conserved Domains (1) summary
      pfam00153
      Location:236321
      Mito_carr; Mitochondrial carrier protein
    2. NM_001303250.3NP_001290179.1  mitochondrial outer membrane protein SLC25A46 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001290179.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus than isoform 1.
      Source sequence(s)
      AC008650, AK302326, BC017169, DB051498
      UniProtKB/TrEMBL
      B4DY98, D6RBG9
      Conserved Domains (1) summary
      pfam00153
      Location:226311
      Mito_carr; Mitochondrial carrier protein
    3. NM_138773.4NP_620128.1  mitochondrial outer membrane protein SLC25A46 isoform 1

      See identical proteins and their annotated locations for NP_620128.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC008650, AK290217, BC017169, DA713164
      Consensus CDS
      CCDS4100.1
      UniProtKB/Swiss-Prot
      A8K2F2, B3KRE6, B4DTA3, D3DSZ6, D6R9W7, Q04197, Q96AG3
      Related
      ENSP00000348211.3, ENST00000355943.8
      Conserved Domains (1) summary
      pfam00153
      Location:317402
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_138151.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008650

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      110738145..110765157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      111248730..111275743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)