• Gene id: 54471

Gene Summary

• Gene Symbol: MIEF1   Gene   UCSC   Ensembl
• Aliases: AltMIEF1, HSU79252, MID51, MIEF1-MP, SMCR7L, dJ1104E15.3
• Gene name: mitochondrial elongation factor 1
• Alternate names: mitochondrial dynamics protein MID51, 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 dynam,
• Gene location: 22q13.1 (39500099: 39518133)     Exons: 10     NC_000022.11
• OMIM: 615497

Protein Summary

• Protein general information: Q9NQG6  
  • Name: Mitochondrial dynamics protein MID51 (Mitochondrial dynamics protein of 51 kDa) (Mitochondrial elongation factor 1) (Smith Magenis syndrome chromosomal region candidate gene 7 protein like) (SMCR7 like protein)
  • Length: 463  
  • Mass: 51293
  • Tissue specificity: Expression is relatively high in heart, skeletal muscle, pancreas and kidney. {ECO
• Sequence:

  MAGAGERKGKKDDNGIGTAIDFVLSNARLVLGVGGAAMLGIATLAVKRMYDRAISAPTSPTRLSHSGKRSWEEPN
  WMGSPRLLNRDMKTGLSRSLQTLPTDSSTFDTDTFCPPRPKPVARKGQVDLKKSRLRMSLQEKLLTYYRNRAAIP
  AGEQARAKQAAVDICAELRSFLRAKLPDMPLRDMYLSGSLYDDLQVVTADHIQLIVPLVLEQNLWSCIPGEDTIM
  NVPGFFLVRRENPEYFPRGSSYWDRCVVGGYLSPKTVADTFEKVVAGSINWPAIGSLLDYVIRPAPPPEALTLEV
  QYERDKHLFIDFLPSVTLGDTVLVAKPHRLAQYDNLWRLSLRPAETARLRALDQADSGCRSLCLKILKAICKSTP
  ALGHLTASQLTNVILHLAQEEADWSPDMLADRFLQALRGLISYLEAGVLPSALNPKVNLFAELTPEEIDELGYTL
  YCSLSEPEVLLQT

• Structural information:
  • Interpro: IPR024810  
  • PDB: 4NXT 4NXU 4NXV 4NXW 4NXX 5X9B 5X9C
  • PDBsum: 4NXT 4NXU 4NXV 4NXW 4NXX 5X9B 5X9C
  • STRING: ENSP00000327124
• Other Databases: GeneCards:  MIEF1  Malacards:  MIEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090141	positive regulation of mitochondrial fission	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0090314	positive regulation of protein targeting to membrane	IDA	NOT|biological process
GO:0090314	positive regulation of protein targeting to membrane	IDA	biological process
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0000266	mitochondrial fission	IMP	biological process
GO:0090141	positive regulation of mitochondrial fission	TAS	biological process
GO:0008053	mitochondrial fusion	IMP	NOT|biological process
GO:0005777	peroxisome	TAS	NOT|cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0019003	GDP binding	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)