Format

Send to:

Choose Destination

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

Gene ID: 54471, updated on 2-Mar-2021

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
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
MID51; SMCR7L; AltMIEF1; HSU79252; MIEF1-MP; dJ1104E15.3
Expression
Ubiquitous expression in testis (RPKM 13.7), kidney (RPKM 8.6) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MIEF1 in Genome Data Viewer
Location:
22q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (39500100..39518133)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39896105..39914139)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Neighboring gene MGAT3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8945 Neighboring gene uncharacterized LOC105373035 Neighboring gene activating transcription factor 4 Neighboring gene ribosomal protein S19 binding protein 1 Neighboring gene calcium voltage-gated channel subunit alpha1 I

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

Homology

Clone Names

  • FLJ20232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
NOT peroxisome TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
mitochondrial dynamics protein MID51
Names
MIEF1 microprotein
SMCR7-like protein
Smith-Magenis syndrome chromosome region, candidate 7-like
alternative MIEF1 protein
mitochondrial dynamic protein MID51
mitochondrial dynamic protein of 51 kDa
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 MID51 isoform 2

    See identical proteins and their annotated locations for NP_001291493.1

    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/Swiss-Prot
    Q9NQG6
    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 MID51 isoform 1

    See identical proteins and their annotated locations for NP_061881.2

    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
    Q9NQG6
    UniProtKB/TrEMBL
    A0A024R1L3
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    39500100..39518133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530236.2XP_011528538.1  mitochondrial dynamics protein MID51 isoform X1

    See identical proteins and their annotated locations for XP_011528538.1

    UniProtKB/Swiss-Prot
    Q9NQG6
    UniProtKB/TrEMBL
    A0A024R1L3
    Conserved Domains (1) summary
    pfam03281
    Location:191446
    Mab-21; Mab-21 protein
  2. XM_011530238.2XP_011528540.1  mitochondrial dynamics protein MID51 isoform X1

    See identical proteins and their annotated locations for XP_011528540.1

    UniProtKB/Swiss-Prot
    Q9NQG6
    UniProtKB/TrEMBL
    A0A024R1L3
    Conserved Domains (1) summary
    pfam03281
    Location:191446
    Mab-21; Mab-21 protein
  3. XM_017028838.2XP_016884327.1  mitochondrial dynamics protein MID51 isoform X1

    UniProtKB/Swiss-Prot
    Q9NQG6
    UniProtKB/TrEMBL
    A0A024R1L3
    Conserved Domains (1) summary
    pfam03281
    Location:191446
    Mab-21; Mab-21 protein
  4. XM_011530237.2XP_011528539.1  mitochondrial dynamics protein MID51 isoform X1

    See identical proteins and their annotated locations for XP_011528539.1

    UniProtKB/Swiss-Prot
    Q9NQG6
    UniProtKB/TrEMBL
    A0A024R1L3
    Related
    ENSP00000385191.1, ENST00000404569.5
    Conserved Domains (1) summary
    pfam03281
    Location:191446
    Mab-21; Mab-21 protein

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_013298.1: Suppressed sequence

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