MIEF1 (mitochondrial elongation factor 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 54471
Gene name Mitochondrial elongation factor 1
Gene symbol MIEF1
Synonyms (NCBI Gene)
AltMIEF1D3AHSU79252L0R8F8MID51MIEF1-MPOPA14SMCR7LdJ1104E15.3
Chromosome 22
Chromosome location 22q13.1
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT639549 hsa-miR-618 HITS-CLIP 23824327
MIRT639548 hsa-miR-6758-3p HITS-CLIP 23824327
MIRT639547 hsa-miR-4764-3p HITS-CLIP 23824327
MIRT639546 hsa-miR-579-3p HITS-CLIP 23824327
MIRT639545 hsa-miR-664b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000266 Process Mitochondrial fission IMP 21701560, 29083303
GO:0005515 Function Protein binding IPI 16189514, 21701560, 23283981, 25416956, 29464060, 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 23921378, 24515348, 29083303
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
615497 25979 ENSG00000100335
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
L0R8F8
Protein name Mitochondrial ribosome and complex I assembly factor AltMIEF1 (Alternative MIEF1 protein) (AltMIEF1) (MIEF1 microprotein) (MIEF1-MP) (alternative transcript upstream of MiD51) (AltMiD51)
Protein function Assembly factor involved in the biogenesis of the mitochondrial-specific ribosomes (mitoribosomes) (PubMed:28892042, PubMed:30215512, PubMed:31666358). Specifically associates with intermediates of the mitochondrial ribosome large subunit (mt-LS
PDB 5OOL , 5OOM , 7A5H , 7A5J , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF5 , 7OF7 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6 , 7QH7 , 8K2B , 8PK0 , 8QSJ , 8QU5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05347 Complex1_LYR 7 → 64 Complex 1 protein (LYR family) Family
Sequence 
MAPWSREAVLSLYRALLRQGRQLRYTDRDFYFASIRREFRKNQKLEDAEARERQLEKGLV
FLNGKLGRII
Sequence length 70
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQG6
Protein name Mitochondrial dynamics protein MIEF1 (Mitochondrial dynamics protein of 51 kDa) (Mitochondrial elongation factor 1) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like) (SMCR7-like protein)
Protein function Mitochondrial outer membrane protein which regulates mitochondrial fission/fusion dynamics (PubMed:21701560, PubMed:23921378, PubMed:33632269). Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to
PDB 4NXT , 4NXU , 4NXV , 4NXW , 4NXX , 5X9B , 5X9C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03281 Mab-21 190 → 451 Mab-21 protein Family
Tissue specificity TISSUE SPECIFICITY: Expression is relatively high in heart, skeletal muscle, pancreas and kidney. {ECO:0000269|PubMed:21701560}.
Sequence 
MAGAGERKGKKDDNGIGTAIDFVLSNARLVLGVGGAAMLGIATLAVKRMYDRAISAPTSP
TRLSHSGKRSWEEPNWMGSPRLLNRDMKTGLSRSLQTLPTDSSTFDTDTFCPPRPKPVAR
KGQVDLKKSRLRMSLQEKLLTYYRNRAAIPAGEQARAKQAAVDICAELRSFLRAKLPDMP
LRDMYLSGSLYDDLQVVTADHIQLIVPLVLEQNLWSCIPGEDTIMNVPGFFLVRRENPEY
FPRGSSYWDRCVVGGYLSPKTVADTFEKVVAGSINWPAIGSLLDYVIRPAPPPEALTLEV
QYERDKHLFIDFLPSVTLGDTVLVAKPHRLAQYDNLWRLSLRPAETARLRALDQADSGCR
SLCLKILKAICKSTPALGHLTASQLTNVILHLAQEEADWSPDMLADRFLQALRGLISYLE
AGVLPSALNPKVNLFAELTPEEIDELGYTLYCSLSEPEVLLQT
Sequence length 463
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Optic atrophy 14 Pathogenic rs1930490416, rs778124994 RCV003387453
RCV003387454
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
OPTIC ATROPHY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Retinal dystrophy Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sort by:
RTN4IP1 1 shared diseaseOptic atrophy 4 shared evidence sourcesDisgenet (Optic atrophy), ClinVar (Optic atrophy), GenCC (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. MCAT 1 shared diseaseOptic atrophy 3 shared evidence sourcesDisgenet (Optic atrophy), ClinVar (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. TMEM126A 1 shared diseaseOptic atrophy 4 shared evidence sourcesDisgenet (Optic atrophy), ClinVar (Optic atrophy), GenCC (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. OPA3 1 shared diseaseOptic atrophy 3 shared evidence sourcesDisgenet (Optic atrophy), ClinVar (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet. YME1L1 1 shared diseaseOptic atrophy 3 shared evidence sourcesDisgenet (Optic atrophy), ClinVar (Optic atrophy), HPO (Optic atrophy) Related via 1 shared disease including Optic atrophy — evidence mostly Disgenet.
Retinitis pigmentosa Linked via 3 of 5 related genesRTN4IP1, TMEM126A, OPA3 Mitochondrial disease Linked via 2 of 5 related genesTMEM126A, YME1L1 Chorea Linked via 1 of 5 related genesRTN4IP1 Global developmental delay Linked via 1 of 5 related genesRTN4IP1 optic atrophy 10 with or without ataxia, intellectual disability, and seizures Linked via 1 of 5 related genesRTN4IP1