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    MIEF1 mitochondrial elongation factor 1 [ Homo sapiens (human) ]

    Gene ID: 54471, updated on 9-Dec-2024

    Summary

    Official Symbol
    MIEF1provided by HGNC
    Official Full Name
    mitochondrial elongation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25979
    See related
    Ensembl:ENSG00000100335 MIM:615497; AllianceGenome:HGNC:25979
    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
    Also known as
    D3A; MID51; OPA14; L0R8F8; SMCR7L; AltMIEF1; HSU79252; MIEF1-MP; dJ1104E15.3
    Summary
    Enables identical protein binding activity; mitochondrial large ribosomal subunit binding activity; and purine ribonucleotide binding activity. Involved in several processes, including mitochondrial large ribosomal subunit assembly; mitochondrion organization; and regulation of mitochondrion organization. Located in mitochondrial matrix and mitochondrial outer membrane. Implicated in optic atrophy. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 13.7), kidney (RPKM 8.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MIEF1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39500100..39518132)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39970729..39988762)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39896105..39914137)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 1 Neighboring gene uncharacterized LOC100506472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39829518-39830236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39830237-39830954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19048 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39843664-39843855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39844165-39845073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19050 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19055 Neighboring gene beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39866163-39867092 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:39869361-39869718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39869884-39870813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39874451-39874952 Neighboring gene MGAT3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39891955-39892455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13756 Neighboring gene uncharacterized LOC105373035 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898075-39898576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39898577-39899076 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:39906581-39907106 Neighboring gene mitochondrial elongation factor 1 upstream open reading frame Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39919051-39919552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39927967-39928482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39928483-39928998 Neighboring gene activating transcription factor 4 Neighboring gene ribosomal protein S19 binding protein 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT located_in peroxisome TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial dynamics protein MIEF1
    Names
    DANGER family member 3A
    MIEF1 microprotein
    SMCR7-like protein
    Smith-Magenis syndrome chromosome region, candidate 7-like
    alternative MIEF1 protein
    alternative protein SMCR7L
    mitochondrial dynamic protein MID51
    mitochondrial dynamic protein of 51 kDa
    mitochondrial dynamics protein MID51
    mitochondrial dynamics protein of 51 kDa
    smith-Magenis syndrome chromosomal region candidate gene 7 protein-like

    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.

    mRNA and Protein(s)

    1. NM_001304564.2NP_001291493.1  mitochondrial dynamics protein MIEF1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon and lacks an internal segment in the 3' region, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL136768, AL834205, BC002587, BC047292, BC054037
      Consensus CDS
      CCDS77678.1
      UniProtKB/TrEMBL
      B0QY95, Q9H0J7
      Related
      ENSP00000385110.1, ENST00000402881.5
      Conserved Domains (1) summary
      pfam03281
      Location:191431
      Mab-21; Mab-21 protein
    2. NM_019008.6NP_061881.2  mitochondrial dynamics protein MIEF1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents a predominant transcript, which encodes a 463aa protein (isoform 1).
      Source sequence(s)
      AL022312
      Consensus CDS
      CCDS13995.1
      UniProtKB/Swiss-Prot
      Q52MA5, Q7L890, Q9BUI3, Q9NQG6
      UniProtKB/TrEMBL
      Q9H0J7
      Related
      ENSP00000327124.2, ENST00000325301.7
      Conserved Domains (1) summary
      pfam03281
      Location:191446
      Mab-21; Mab-21 protein

    RNA

    1. NR_130789.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, , compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL834205, BC047292, BC054037, DA192893
    2. NR_130790.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an additional internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK000239, AK290954, AL022312, DA192893

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      39500100..39518132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39970729..39988762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001394030.1: Suppressed sequence

      Description
      NM_001394030.1: This RefSeq was removed because it is now represented as a separate protein-coding gene.
    2. NM_013298.1: Suppressed sequence

      Description
      NM_013298.1: This RefSeq was permanently suppressed because it is based on a chimeric sequence.