Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 91137, updated on 27-Aug-2016
    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 HPRD:14283; MIM:610826; Vega:OTTHUMG00000128794
    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
    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]
    Orthologs
    Location:
    5q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (110738136..110765161)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (110073837..110100857)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379119 Neighboring gene transmembrane protein 232 Neighboring gene microRNA 548f-3 Neighboring gene integrin alpha FG-GAP repeat containing 2 pseudogene Neighboring gene BCL2 associated transcription factor 1 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
    MedGen: CN232097 OMIM: 616505 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686G02226

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    mitochondrial membrane fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    solute carrier family 25 member 46

    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
      5837..32039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303249.2NP_001290178.1  solute carrier family 25 member 46 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, OTTHUMP00000223494, ENST00000447245, OTTHUMT00000372504
      Conserved Domains (1) summary
      pfam00153
      Location:236321
      Mito_carr; Mitochondrial carrier protein
    2. NM_001303250.2NP_001290179.1  solute carrier family 25 member 46 isoform 3

      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/Swiss-Prot
      Q96AG3
      UniProtKB/TrEMBL
      B4DY98
      Conserved Domains (1) summary
      pfam00153
      Location:226311
      Mito_carr; Mitochondrial carrier protein
    3. NM_138773.3NP_620128.1  solute carrier family 25 member 46 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
      Q96AG3
      Related
      ENSP00000348211, OTTHUMP00000159002, ENST00000355943, OTTHUMT00000250721
      Conserved Domains (1) summary
      pfam00153
      Location:317402
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_138151.1 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: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      110738136..110765161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      109507149..109534174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)