• Gene id: 246269

Gene Summary

• Gene Symbol: AFG1L   Gene   UCSC   Ensembl
• Aliases: AFG1, LACE1, c222389
• Gene name: AFG1 like ATPase
• Alternate names: AFG1-like ATPase, ATPase family gene 1 homolog, CG8520 gene product, lactation elevated 1, lactation elevated protein 1,
• Gene location: 6q21 (108294880: 108526000)     Exons: 19     NC_000006.12
• Gene summary(Entrez): This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the
• OMIM: 617469

Protein Summary

• Protein general information: Q8WV93  
  • Name: AFG1 like ATPase (Lactation elevated protein 1) (EC 3.6. . ) (Protein AFG1 homolog)
  • Length: 481  
  • Mass: 54845
• Sequence:

  MAASWSLLVTLRPLAQSPLRGRCVGCGAWAAALAPLATAPGKPFWKAYTVQTSESMTPTATSETYLKALAVCHGP
  LDHYDFLIKAHELKDDEHQRRVIQCLQKLHEDLKGYNIEAEGLFSKLFSRSKPPRGLYVYGDVGTGKTMVMDMFY
  AYVEMKRKKRVHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSYDPIAPIAEEISEEACLLCFDEFQVTDIADAMI
  LKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNTVQLDSGIDYRKRELPAAGKLYYLTSE
  ADVEAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCERPLGASDYLELSKNFDTIFLRN
  IPQFTLANRTQGRRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMDDLGLSQDSAEGLSMFTG
  EEEIFAFQRTISRLTEMQTEQYWNEGDRTKK

• Structural information:
  • Interpro: IPR005654  IPR027417  
  • STRING: ENSP00000357973
• Other Databases: GeneCards:  AFG1L  Malacards:  AFG1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016887	ATPase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0007005	mitochondrion organization	IMP	biological process
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035694	mitochondrial protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq