InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SPG7

Summary

InnateDB Gene

IDBG-47463.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPG7

Gene Name

spastic paraplegia 7 (pure and complicated autosomal recessive)

Synonyms

CAR; CMAR; PGN; SPG5C

Species

Homo sapiens

Ensembl Gene

ENSG00000197912

Encoded Proteins

IDBP-47465

spastic paraplegia 7 (pure and complicated autosomal recessive)

IDBP-47469

spastic paraplegia 7 (pure and complicated autosomal recessive)

IDBP-753904

IDBP-748098

IDBP-745170

IDBP-753280

IDBP-813177

spastic paraplegia 7 (pure and complicated autosomal recessive)

IDBP-751392

IDBP-754472

IDBP-813190

spastic paraplegia 7 (pure and complicated autosomal recessive)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. [provided by RefSeq, Jul 2008]
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, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:89490917-89557768

Strand

Forward strand

Band

q24.3

Transcripts

ENST00000268704	ENSP00000268704
ENST00000341316	ENSP00000341157
ENST00000564047
ENST00000566221	ENSP00000457298
ENST00000569820	ENSP00000454805
ENST00000561702
ENST00000568151	ENSP00000457719
ENST00000561911	ENSP00000457387
ENST00000567138	ENSP00000483351
ENST00000566371	ENSP00000454475
ENST00000563783
ENST00000568205
ENST00000566682	ENSP00000461979
ENST00000563218
ENST00000569363
ENST00000568509
ENST00000561945
ENST00000564409
ENST00000565891
ENST00000565370
ENST00000562775
ENST00000569720
ENST00000620811	ENSP00000478030

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008233	peptidase activity
GO:0008270	zinc ion binding
GO:0016887	ATPase activity
GO:0017111	nucleoside-triphosphatase activity
GO:0051082	unfolded protein binding

Biological Process

GO:0006508	proteolysis
GO:0007005	mitochondrion organization
GO:0007399	nervous system development
GO:0008089	anterograde axon cargo transport
GO:0008219	cell death

Cellular Component

GO:0005739	mitochondrion
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031966	mitochondrial membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000000738

View Gene Order

ENSBTAG00000012041

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.185597 Hs.609804 Hs.742349

RefSeq

NM_003119 NM_199367

HUGO

OMIM

CCDS

CCDS10977 CCDS10978

HPRD

04149

IMGT

EMBL

GenPept

RNA Seq Atlas