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SPG7 [mitochondrial inner membrane]
Stable Identifier
R-HSA-8953712
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial inner membrane
Synonyms
fullName evidence="2"Paraplegin ecNumber3.4.24.-/ecNumber, SPG7_HUMAN
Locations in the PathwayBrowser
Expand all
Metabolism of proteins (Homo sapiens)
Mitochondrial protein degradation (Homo sapiens)
AFG3L2:SPG7 binds SMDT1 (EMRE) (Homo sapiens)
AFG3L2:SPG7:SMDT1 [mitochondrial inner membrane] (Homo sapiens)
AFG3L2:Zn2+:SPG7:Zn2+ heterohexamer [mitochondrial inner membrane] (Homo sapiens)
SPG7:Zn2+ [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
AFG3L2:Zn2+:SPG7:Zn2+ heterohexamer [mitochondrial inner membrane] (Homo sapiens)
SPG7:Zn2+ [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
AFG3L2:SPG7 degrades SMDT1 (EMRE) (Homo sapiens)
AFG3L2:SPG7:SMDT1 [mitochondrial inner membrane] (Homo sapiens)
AFG3L2:Zn2+:SPG7:Zn2+ heterohexamer [mitochondrial inner membrane] (Homo sapiens)
SPG7:Zn2+ [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
AFG3L2:Zn2+:SPG7:Zn2+ heterohexamer [mitochondrial inner membrane] (Homo sapiens)
SPG7:Zn2+ [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
SPG7:Zn2+ [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
Transport of small molecules (Homo sapiens)
Mitochondrial calcium ion transport (Homo sapiens)
Processing of SMDT1 (Homo sapiens)
AFG3L2 (m-AAA protease) degrades SMDT1 that is not assembled in MCU (Homo sapiens)
C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
C2orf47:AFG3L2 binds the transit peptide of SMDT1 (Homo sapiens)
C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
proSMDT1:C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE) (Homo sapiens)
C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
proSMDT1:C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
SPG7 [mitochondrial inner membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9UQ90 SPG7
Gene Names
SPG7, CAR, PGN, CMAR
Chain
transit peptide:1-43, propeptide:44-105, chain:106-795
Reference Genes
BioGPS Gene:6687 SPG7
COSMIC (genes):SPG7 SPG7
CTD Gene:6687 SPG7
dbSNP Gene:6687 SPG7
ENSEMBL:ENSG00000197912 SPG7
ENSEMBL_homo_sapiens_GENE:ENSG00000197912.16 SPG7
HGNC:11237 SPG7
KEGG Gene (Homo sapiens):6687 SPG7
Monarch:6687 SPG7
NCBI Gene:6687 SPG7
OMIM:602783 SPG7
UCSC:Q9UQ90 SPG7
Reference Transcript
RefSeq:XM_017023599.1 SPG7
RefSeq:NM_003119.3 SPG7
RefSeq:NM_199367.2 SPG7
Other Identifiers
101930112
11715993_s_at
11729499_at
16821977
202104_PM_s_at
202104_s_at
214494_PM_s_at
214494_s_at
230884_PM_s_at
230884_s_at
235325_PM_at
235325_at
31673_s_at
3674066
3674067
3674068
3674069
3674080
3674081
3674084
3674085
3674089
3674090
3674092
3674093
3674098
3674099
3674100
3674101
3674106
3674107
3674109
3674110
3674118
3674122
3674125
3674126
3674129
3674130
3674131
6687
7997909
85222_r_at
A_14_P116582
A_23_P3627
A_23_P433990
A_24_P205120
A_24_P5305
GE60332
GO:0000166
GO:0003824
GO:0004176
GO:0004222
GO:0005515
GO:0005524
GO:0005739
GO:0005743
GO:0005745
GO:0005757
GO:0006508
GO:0007005
GO:0007018
GO:0007399
GO:0008089
GO:0008233
GO:0008237
GO:0008270
GO:0012501
GO:0016020
GO:0016787
GO:0016887
GO:0034982
GO:0043226
GO:0046872
GO:0046902
GO:0048856
GO:0051082
GO:0051604
GO:0061024
GO:0140096
GO:0140657
GO:1902686
GO:1904115
HMNXSV003039907
HMNXSV003043515
Hs.183957.0.A1_3p_at
Hs.272480.0.S1_3p_s_at
Hs.296847.2.A1_3p_a_at
ILMN_1675583
ILMN_1754529
PH_hs_0023727
X65784_s_at
Participates
as a component of
SPG7:Zn2+ [mitochondrial inner membrane] (Homo sapiens)
C2orf47:AFG3L2:SPG7:PHB:PHB2 [mitochondrial inner membrane] (Homo sapiens)
Inferred To
ppgn-1 [mitochondrial inner membrane]
(Caenorhabditis elegans)
SPG7 [mitochondrial inner membrane]
(Bos taurus)
SPG7 [mitochondrial inner membrane]
(Canis familiaris)
SPG7 [mitochondrial inner membrane]
(Dictyostelium discoideum)
SPG7 [mitochondrial inner membrane]
(Gallus gallus)
SPG7 [mitochondrial inner membrane]
(Mus musculus)
SPG7 [mitochondrial inner membrane]
(Plasmodium falciparum)
SPG7 [mitochondrial inner membrane]
(Rattus norvegicus)
SPG7 [mitochondrial inner membrane]
(Saccharomyces cerevisiae)
SPG7 [mitochondrial inner membrane]
(Schizosaccharomyces pombe)
SPG7 [mitochondrial inner membrane]
(Sus scrofa)
Spg7 [mitochondrial inner membrane]
(Drosophila melanogaster)
rcaA [mitochondrial inner membrane]
(Dictyostelium discoideum)
spg7 [mitochondrial inner membrane]
(Xenopus tropicalis)
Homologues of SPG7 [mitochondrial inner membrane]
(Dictyostelium discoideum)
Homologues of SPG7 [mitochondrial inner membrane]
(Plasmodium falciparum)
Homologues of SPG7 [mitochondrial inner membrane]
(Saccharomyces cerevisiae)
Cross References
RefSeq
NP_003110.1
,
NP_955399.1
,
XP_016879088.1
OpenTargets
ENSG00000197912
HPA
ENSG00000197912-SPG7
GeneCards
Q9UQ90
Ensembl
ENSP00000341157
,
ENSP00000495795
,
ENSP00000494119
,
ENST00000341316
,
ENST00000645818
,
ENST00000646263
,
ENSG00000197912
PRO
Q9UQ90
Pharos - Targets
Q9UQ90
Orphanet
15548
PDB
2QZ4
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q5VWX1 KHDRBS2
2
KHDRBS2 [nucleoplasm]
(R-HSA-8849028)
p-Y-KHDRBS2 [nucleoplasm]
(R-HSA-8849031)
0.556
3
UniProt:P61978 HNRNPK
2
polySUMO2-K422-HNRNPK [nucleoplasm]
(R-HSA-4570532)
HNRNPK [nucleoplasm]
(R-HSA-71945)
0.556
6
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