• Gene id: 6687

Gene Summary

• Gene Symbol: SPG7   Gene   UCSC   Ensembl
• Aliases: CAR, CMAR, PGN, SPG5C
• Gene name: SPG7 matrix AAA peptidase subunit, paraplegin
• Alternate names: paraplegin, SPG7, paraplegin matrix AAA peptidase subunit, cell matrix adhesion regulator, spastic paraplegia 7 (pure and complicated autosomal recessive), spastic paraplegia 7 protein,
• Gene location: 16q24.3 (89508378: 89557767)     Exons: 22     NC_000016.10
• Gene summary(Entrez): This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organe
• OMIM: 618609

Protein Summary

• Protein general information: Q9UQ90  
  • Name: Paraplegin (EC 3.4.24. ) (Cell matrix adhesion regulator) (Spastic paraplegia 7 protein)
  • Length: 795  
  • Mass: 88235
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTPTFEGI
  NGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRERLRTLLVIAV
  VMSLLNALSTSGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEK
  LRAAEDELNIEAKDRIPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDG
  KMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFLAMAG
  PEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVI
  VLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANIC
  NEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRT
  NAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPIS
  FPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPP
  PHGPKKMIAPQRWIDAQREKQDLGEEETEETQQPPLGGEEPTWPK

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR003959  IPR005936  IPR027417   IPR011546  IPR000642  IPR037219  
  • PDB: 2QZ4
  • PDBsum: 2QZ4
  • STRING: ENSP00000268704
• Other Databases: GeneCards:  SPG7  Malacards:  SPG7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007005	mitochondrion organization	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005757	mitochondrial permeability transition pore complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0046902	regulation of mitochondrial membrane permeability	IMP	biological process
GO:1902686	mitochondrial outer membrane permeabilization involved in programmed cell death	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008233	peptidase activity	TAS	molecular function
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
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:0008089	anterograde axonal transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:1902686	mitochondrial outer membrane permeabilization involved in programmed cell death	IEA	biological process
GO:0046902	regulation of mitochondrial membrane permeability	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005745	m-AAA complex	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq