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Protein

Paraplegin

Gene

SPG7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Putative ATP-dependent zinc metalloprotease.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei173 – 1731ATP; via amide nitrogen and carbonyl oxygen
Binding sitei492 – 4921ATP
Metal bindingi574 – 5741Zinc; catalyticBy similarity
Active sitei575 – 5751By similarity
Metal bindingi578 – 5781Zinc; catalyticBy similarity
Metal bindingi650 – 6501Zinc; catalyticBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi349 – 3579ATP

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: MGI
  • peptidase activity Source: ProtInc
  • unfolded protein binding Source: ProtInc
  • zinc ion binding Source: InterPro

GO - Biological processi

  • anterograde axon cargo transport Source: Ensembl
  • mitochondrion organization Source: Ensembl
  • nervous system development Source: ProtInc
  • proteolysis Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.B18. 2681.

Protein family/group databases

MEROPSiM41.006.

Names & Taxonomyi

Protein namesi
Recommended name:
Paraplegin (EC:3.4.24.-)
Alternative name(s):
Spastic paraplegia 7 protein
Gene namesi
Name:SPG7
Synonyms:CAR, CMAR, PGN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:11237. SPG7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 144144Mitochondrial matrixSequence AnalysisAdd
BLAST
Transmembranei145 – 16521HelicalSequence AnalysisAdd
BLAST
Topological domaini166 – 24883Mitochondrial intermembraneSequence AnalysisAdd
BLAST
Transmembranei249 – 26921HelicalSequence AnalysisAdd
BLAST
Topological domaini270 – 795526Mitochondrial matrixSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial membrane Source: UniProtKB-SubCell
  • mitochondrion Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 7, autosomal recessive (SPG7)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.

See also OMIM:607259
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti349 – 3491G → S in SPG7; function impaired. 1 Publication
Corresponds to variant rs141659620 [ dbSNP | Ensembl ].
VAR_063607
Natural varianti510 – 5101A → V in SPG7; function impaired. 2 Publications
Corresponds to variant rs61755320 [ dbSNP | Ensembl ].
VAR_063609
Natural varianti581 – 5811Missing in SPG7. 1 Publication
VAR_063611
Natural varianti583 – 5831W → C in SPG7; function impaired. 1 Publication
VAR_063612
Natural varianti692 – 6921S → T in SPG7. 1 Publication
VAR_045898

Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera.

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Osteogenesis imperfecta

Organism-specific databases

MIMi607259. phenotype.
Orphaneti250932. Autosomal dominant optic atrophy and peripheral neuropathy.
99013. Autosomal recessive spastic paraplegia type 7.
PharmGKBiPA36067.

Polymorphism and mutation databases

BioMutaiSPG7.
DMDMi116242796.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 795795ParapleginPRO_0000084675Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei505 – 5051Nitrated tyrosineBy similarity

Keywords - PTMi

Nitration

Proteomic databases

MaxQBiQ9UQ90.
PaxDbiQ9UQ90.
PRIDEiQ9UQ90.

PTM databases

PhosphoSiteiQ9UQ90.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ9UQ90.
CleanExiHS_SPG7.
ExpressionAtlasiQ9UQ90. baseline and differential.
GenevestigatoriQ9UQ90.

Interactioni

Subunit structurei

Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CCNDBP1O952733EBI-717201,EBI-748961
HNRNPKP619783EBI-717201,EBI-304185
HNRPKQ6IBN13EBI-717201,EBI-3440248
KHDRBS2Q5VWX13EBI-717201,EBI-742808
KRT40Q6A1623EBI-717201,EBI-10171697
KRTAP10-7P604093EBI-717201,EBI-10172290
KRTAP10-9P604113EBI-717201,EBI-10172052
LZTS2Q9BRK43EBI-717201,EBI-741037
MDFIQ997504EBI-717201,EBI-724076
MTUS2Q5JR594EBI-717201,EBI-742948
NOTCH2NLQ7Z3S93EBI-717201,EBI-945833
PNMA1Q8ND904EBI-717201,EBI-302345
PSME3P612893EBI-717201,EBI-355546
PSTPIP1O435863EBI-717201,EBI-1050964
RBPMSQ930623EBI-717201,EBI-740322

Protein-protein interaction databases

BioGridi112565. 40 interactions.
IntActiQ9UQ90. 27 interactions.
MINTiMINT-3083741.
STRINGi9606.ENSP00000268704.

Structurei

Secondary structure

1
795
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi315 – 32915Combined sources
Beta strandi344 – 3496Combined sources
Helixi355 – 36612Combined sources
Beta strandi370 – 3745Combined sources
Turni375 – 3784Combined sources
Beta strandi379 – 3824Combined sources
Helixi385 – 39915Combined sources
Beta strandi402 – 4087Combined sources
Helixi431 – 44111Combined sources
Beta strandi449 – 4568Combined sources
Helixi458 – 4625Combined sources
Helixi464 – 4663Combined sources
Beta strandi473 – 4764Combined sources
Helixi482 – 49514Combined sources
Helixi502 – 51110Combined sources
Helixi518 – 52912Combined sources
Helixi545 – 55713Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2QZ4X-ray2.22A305-565[»]
ProteinModelPortaliQ9UQ90.
SMRiQ9UQ90. Positions 158-245, 305-755.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UQ90.

Family & Domainsi

Sequence similaritiesi

In the N-terminal section; belongs to the AAA ATPase family.Curated
In the C-terminal section; belongs to the peptidase M41 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0465.
GeneTreeiENSGT00790000123024.
HOGENOMiHOG000217277.
HOVERGENiHBG050184.
InParanoidiQ9UQ90.
KOiK09552.
OMAiPQKWIDA.
OrthoDBiEOG7HF1HP.
PhylomeDBiQ9UQ90.
TreeFamiTF105003.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_01458. FtsH.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UQ90-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG
60 70 80 90 100
DLAEAGGRAL QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY
110 120 130 140 150
FNTSRLKQKN KEKDKSKGKA PEEDEEERRR RERDDQMYRE RLRTLLVIAV
160 170 180 190 200
VMSLLNALST SGGSISWNDF VHEMLAKGEV QRVQVVPESD VVEVYLHPGA
210 220 230 240 250
VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR IPVSYKRTGF
260 270 280 290 300
FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG
310 320 330 340 350
KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP
360 370 380 390 400
PGCGKTLLAK AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR
410 420 430 440 450
APCIVYIDEI DAVGKKRSTT MSGFSNTEEE QTLNQLLVEM DGMGTTDHVI
460 470 480 490 500
VLASTNRADI LDGALMRPGR LDRHVFIDLP TLQERREIFE QHLKSLKLTQ
510 520 530 540 550
SSTFYSQRLA ELTPGFSGAD IANICNEAAL HAAREGHTSV HTLNFEYAVE
560 570 580 590 600
RVLAGTAKKS KILSKEEQKV VAFHESGHAL VGWMLEHTEA VMKVSITPRT
610 620 630 640 650
NAALGFAQML PRDQHLFTKE QLFERMCMAL GGRASEALSF NEVTSGAQDD
660 670 680 690 700
LRKVTRIAYS MVKQFGMAPG IGPISFPEAQ EGLMGIGRRP FSQGLQQMMD
710 720 730 740 750
HEARLLVAKA YRHTEKVLQD NLDKLQALAN ALLEKEVINY EDIEALIGPP
760 770 780 790
PHGPKKMIAP QRWIDAQREK QDLGEEETEE TQQPPLGGEE PTWPK
Length:795
Mass (Da):88,235
Last modified:October 17, 2006 - v2
Checksum:i453D4BF8553A0632
GO
Isoform 2 (identifier: Q9UQ90-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     443-489: MGTTDHVIVL...PTLQERREIF → ASLDQLPSQG...HSLCWGCLLH
     490-795: Missing.

Note: No experimental confirmation available.

Show »
Length:489
Mass (Da):53,940
Checksum:i32CDE9E69A1918F9
GO

Sequence cautioni

The sequence AAH35929.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BC007692 differs from that shown. Reason: Erroneous termination at position 428. Translated as Glu.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti12 – 121R → G in AAD28099 (PubMed:10480368).Curated
Sequence conflicti376 – 3761P → A in AAH36104 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → T.1 Publication
VAR_063603
Natural varianti82 – 821Missing Might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication
VAR_063604
Natural varianti284 – 2841F → P Requires 2 nucleotide substitutions; might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication
VAR_063605
Natural varianti294 – 2941R → H.1 Publication
Corresponds to variant rs115661328 [ dbSNP | Ensembl ].
VAR_063606
Natural varianti349 – 3491G → S in SPG7; function impaired. 1 Publication
Corresponds to variant rs141659620 [ dbSNP | Ensembl ].
VAR_063607
Natural varianti486 – 4861R → Q.
Corresponds to variant rs111475461 [ dbSNP | Ensembl ].
VAR_063608
Natural varianti503 – 5031T → A Neutral polymorphism. 2 Publications
Corresponds to variant rs2292954 [ dbSNP | Ensembl ].
VAR_017433
Natural varianti510 – 5101A → V in SPG7; function impaired. 2 Publications
Corresponds to variant rs61755320 [ dbSNP | Ensembl ].
VAR_063609
Natural varianti545 – 5451F → L.1 Publication
VAR_063610
Natural varianti581 – 5811Missing in SPG7. 1 Publication
VAR_063611
Natural varianti583 – 5831W → C in SPG7; function impaired. 1 Publication
VAR_063612
Natural varianti603 – 6031A → T.1 Publication
VAR_063613
Natural varianti623 – 6231F → C.
Corresponds to variant rs17783943 [ dbSNP | Ensembl ].
VAR_048117
Natural varianti635 – 6351S → L Might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication
VAR_063614
Natural varianti645 – 6451S → T.1 Publication
Corresponds to variant rs2099104 [ dbSNP | Ensembl ].
VAR_059086
Natural varianti650 – 6501D → H Might be implicated in the hereditary spastic paraplegia phenotype. 1 Publication
VAR_063615
Natural varianti688 – 6881R → Q Neutral polymorphism. 2 Publications
Corresponds to variant rs12960 [ dbSNP | Ensembl ].
VAR_017434
Natural varianti692 – 6921S → T in SPG7. 1 Publication
VAR_045898
Natural varianti730 – 7301N → D.1 Publication
Corresponds to variant rs35749032 [ dbSNP | Ensembl ].
VAR_048118

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei443 – 48947MGTTD…RREIF → ASLDQLPSQGTMRKLRGKTP ACSCLTEPTGSRRAMEGHSL CWGCLLH in isoform 2. 1 PublicationVSP_009192Add
BLAST
Alternative sequencei490 – 795306Missing in isoform 2. 1 PublicationVSP_009193Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y16610 mRNA. Translation: CAA76314.1.
AF080525
, AF080511, AF080512, AF080513, AF080514, AF080515, AF080516, AF080517, AF080518, AF080519, AF080520, AF080521, AF080522, AF080523, AF080524 Genomic DNA. Translation: AAD28099.1.
BC007692 mRNA. No translation available.
BC035929 mRNA. Translation: AAH35929.1. Different initiation.
BC036104 mRNA. Translation: AAH36104.1.
BC110530 mRNA. No translation available.
BC110531 mRNA. No translation available.
CCDSiCCDS10977.1. [Q9UQ90-1]
CCDS10978.1. [Q9UQ90-2]
RefSeqiNP_003110.1. NM_003119.3. [Q9UQ90-1]
NP_955399.1. NM_199367.2. [Q9UQ90-2]
UniGeneiHs.185597.

Genome annotation databases

EnsembliENST00000268704; ENSP00000268704; ENSG00000197912. [Q9UQ90-1]
ENST00000341316; ENSP00000341157; ENSG00000197912. [Q9UQ90-2]
GeneIDi6687.
KEGGihsa:6687.
UCSCiuc002fni.3. human. [Q9UQ90-2]
uc002fnj.3. human. [Q9UQ90-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Osteogenesis imperfecta variant database

Paraplegin (SPG7)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y16610 mRNA. Translation: CAA76314.1.
AF080525
, AF080511, AF080512, AF080513, AF080514, AF080515, AF080516, AF080517, AF080518, AF080519, AF080520, AF080521, AF080522, AF080523, AF080524 Genomic DNA. Translation: AAD28099.1.
BC007692 mRNA. No translation available.
BC035929 mRNA. Translation: AAH35929.1. Different initiation.
BC036104 mRNA. Translation: AAH36104.1.
BC110530 mRNA. No translation available.
BC110531 mRNA. No translation available.
CCDSiCCDS10977.1. [Q9UQ90-1]
CCDS10978.1. [Q9UQ90-2]
RefSeqiNP_003110.1. NM_003119.3. [Q9UQ90-1]
NP_955399.1. NM_199367.2. [Q9UQ90-2]
UniGeneiHs.185597.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2QZ4X-ray2.22A305-565[»]
ProteinModelPortaliQ9UQ90.
SMRiQ9UQ90. Positions 158-245, 305-755.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112565. 40 interactions.
IntActiQ9UQ90. 27 interactions.
MINTiMINT-3083741.
STRINGi9606.ENSP00000268704.

Protein family/group databases

MEROPSiM41.006.

PTM databases

PhosphoSiteiQ9UQ90.

Polymorphism and mutation databases

BioMutaiSPG7.
DMDMi116242796.

Proteomic databases

MaxQBiQ9UQ90.
PaxDbiQ9UQ90.
PRIDEiQ9UQ90.

Protocols and materials databases

DNASUi6687.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268704; ENSP00000268704; ENSG00000197912. [Q9UQ90-1]
ENST00000341316; ENSP00000341157; ENSG00000197912. [Q9UQ90-2]
GeneIDi6687.
KEGGihsa:6687.
UCSCiuc002fni.3. human. [Q9UQ90-2]
uc002fnj.3. human. [Q9UQ90-1]

Organism-specific databases

CTDi6687.
GeneCardsiGC16P089559.
GeneReviewsiSPG7.
HGNCiHGNC:11237. SPG7.
MIMi602783. gene.
607259. phenotype.
neXtProtiNX_Q9UQ90.
Orphaneti250932. Autosomal dominant optic atrophy and peripheral neuropathy.
99013. Autosomal recessive spastic paraplegia type 7.
PharmGKBiPA36067.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0465.
GeneTreeiENSGT00790000123024.
HOGENOMiHOG000217277.
HOVERGENiHBG050184.
InParanoidiQ9UQ90.
KOiK09552.
OMAiPQKWIDA.
OrthoDBiEOG7HF1HP.
PhylomeDBiQ9UQ90.
TreeFamiTF105003.

Enzyme and pathway databases

BRENDAi3.4.24.B18. 2681.

Miscellaneous databases

ChiTaRSiSPG7. human.
EvolutionaryTraceiQ9UQ90.
GeneWikiiParaplegin.
SPG7.
GenomeRNAii6687.
NextBioi26057.
PROiQ9UQ90.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UQ90.
CleanExiHS_SPG7.
ExpressionAtlasiQ9UQ90. baseline and differential.
GenevestigatoriQ9UQ90.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_01458. FtsH.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01241. FtsH_fam. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease."
    Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., De Michele G., Filla A., Cocozza S., Marconi R., Duerr A., Fontaine B., Ballabio A.
    Cell 93:973-983(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, INVOLVEMENT IN SPG7.
  2. "Genomic structure and expression analysis of the spastic paraplegia gene, SPG7."
    Settasatian C., Whitmore S.A., Crawford J., Bilton R.L., Cleton-Jansen A.-M., Sutherland G.R., Callen D.F.
    Hum. Genet. 105:139-144(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Duodenum and Placenta.
  4. "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia."
    Atorino L., Silvestri L., Koppen M., Cassina L., Ballabio A., Marconi R., Langer T., Casari G.
    J. Cell Biol. 163:777-787(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH AFG3L2.
  5. "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta."
    Lapunzina P., Aglan M., Temtamy S., Caparros-Martin J.A., Valencia M., Leton R., Martinez-Glez V., Elhossini R., Amr K., Vilaboa N., Ruiz-Perez V.L.
    Am. J. Hum. Genet. 87:110-114(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OSTEOGENESIS IMPERFECTA.
  6. "Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7."
    Karlberg T., van den Berg S., Hammarstrom M., Sagemark J., Johansson I., Holmberg-Schiavone L., Schuler H.
    PLoS ONE 4:E6975-E6975(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.22 ANGSTROMS) OF 305-565 IN COMPLEX WITH ATP ANALOG ADP.
  7. "Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia."
    Elleuch N., Depienne C., Benomar A., Hernandez A.M., Ferrer X., Fontaine B., Grid D., Tallaksen C.M.E., Zemmouri R., Stevanin G., Durr A., Brice A.
    Neurology 66:654-659(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SPG7 VAL-510 AND VAL-581 DEL, VARIANTS THR-2; GLN-82 DEL; PRO-284; HIS-294; GLN-486 ALA-503; LEU-545; THR-603; LEU-635; THR-645; HIS-650; GLN-688 AND ASP-730.
  8. "A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation."
    Warnecke T., Duning T., Schwan A., Lohmann H., Epplen J.T., Young P.
    Neurology 69:368-375(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SPG7 THR-692.
  9. "Functional evaluation of paraplegin mutations by a yeast complementation assay."
    Bonn F., Pantakani K., Shoukier M., Langer T., Mannan A.U.
    Hum. Mutat. 31:617-621(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SPG7 SER-349; VAL-510 AND CYS-583, VARIANTS ALA-503 AND GLN-688, CHARACTERIZATION OF VARIANTS SPG7 SER-349; VAL-510 AND CYS-583, CHARACTERIZATION OF VARIANTS ALA-503 AND GLN-688.

Entry informationi

Entry nameiSPG7_HUMAN
AccessioniPrimary (citable) accession number: Q9UQ90
Secondary accession number(s): O75756
, Q2TB70, Q58F00, Q96IB0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 17, 2006
Last modified: May 27, 2015
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenous CMAR protein.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.