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Q9UQ90

- SPG7_HUMAN

UniProt

Q9UQ90 - SPG7_HUMAN

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Protein

Paraplegin

Gene
SPG7, CAR, CMAR, PGN
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Putative ATP-dependent zinc metalloprotease.UniRule annotation

Sites

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

Regions

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

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. metalloendopeptidase activity Source: MGI
  3. nucleoside-triphosphatase activity Source: InterPro
  4. peptidase activity Source: ProtInc
  5. protein binding Source: UniProtKB
  6. unfolded protein binding Source: ProtInc
  7. zinc ion binding Source: InterPro

GO - Biological processi

  1. anterograde axon cargo transport Source: Ensembl
  2. cell death Source: UniProtKB-KW
  3. mitochondrion organization Source: Ensembl
  4. nervous system development Source: ProtInc
  5. proteolysis Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

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

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: Chromosome 16

Organism-specific databases

HGNCiHGNC:11237. SPG7.

Subcellular locationi

Mitochondrion membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 144144Mitochondrial matrix Reviewed predictionAdd
BLAST
Transmembranei145 – 16521Helical; Reviewed predictionAdd
BLAST
Topological domaini166 – 24883Mitochondrial intermembrane Reviewed predictionAdd
BLAST
Transmembranei249 – 26921Helical; Reviewed predictionAdd
BLAST
Topological domaini270 – 795526Mitochondrial matrix Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 7, autosomal recessive (SPG7) [MIM:607259]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 795795ParapleginUniRule annotationPRO_0000084675Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Nitration

Proteomic databases

MaxQBiQ9UQ90.
PaxDbiQ9UQ90.
PRIDEiQ9UQ90.

PTM databases

PhosphoSiteiQ9UQ90.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

ArrayExpressiQ9UQ90.
BgeeiQ9UQ90.
CleanExiHS_SPG7.
GenevestigatoriQ9UQ90.

Interactioni

Subunit structurei

Interacts with AFG3L2; the interaction is required for the efficient assembly of mitochondrial complex I.1 Publication

Protein-protein interaction databases

BioGridi112565. 14 interactions.
IntActiQ9UQ90. 15 interactions.
MINTiMINT-3083741.
STRINGi9606.ENSP00000268704.

Structurei

Secondary structure

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

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiQ9UQ90.

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0465.
HOGENOMiHOG000217277.
HOVERGENiHBG050184.
InParanoidiQ9UQ90.
KOiK09552.
OMAiMMDHEAK.
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. Align

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

MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG    50
DLAEAGGRAL QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY 100
FNTSRLKQKN KEKDKSKGKA PEEDEEERRR RERDDQMYRE RLRTLLVIAV 150
VMSLLNALST SGGSISWNDF VHEMLAKGEV QRVQVVPESD VVEVYLHPGA 200
VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR IPVSYKRTGF 250
FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG 300
KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP 350
PGCGKTLLAK AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR 400
APCIVYIDEI DAVGKKRSTT MSGFSNTEEE QTLNQLLVEM DGMGTTDHVI 450
VLASTNRADI LDGALMRPGR LDRHVFIDLP TLQERREIFE QHLKSLKLTQ 500
SSTFYSQRLA ELTPGFSGAD IANICNEAAL HAAREGHTSV HTLNFEYAVE 550
RVLAGTAKKS KILSKEEQKV VAFHESGHAL VGWMLEHTEA VMKVSITPRT 600
NAALGFAQML PRDQHLFTKE QLFERMCMAL GGRASEALSF NEVTSGAQDD 650
LRKVTRIAYS MVKQFGMAPG IGPISFPEAQ EGLMGIGRRP FSQGLQQMMD 700
HEARLLVAKA YRHTEKVLQD NLDKLQALAN ALLEKEVINY EDIEALIGPP 750
PHGPKKMIAP QRWIDAQREK QDLGEEETEE TQQPPLGGEE PTWPK 795
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.
The sequence BC007692 differs from that shown. Reason: Erroneous termination at position 428. Translated as Glu.

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.1 Publication
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. VSP_009192Add
BLAST
Alternative sequencei490 – 795306Missing in isoform 2. VSP_009193Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti12 – 121R → G in AAD28099. 1 Publication
Sequence conflicti376 – 3761P → A in AAH36104. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi116242796.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Osteogenesis imperfecta variant database

Paraplegin (SPG7)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS10977.1. [Q9UQ90-1 ]
CCDS10978.1. [Q9UQ90-2 ]
RefSeqi NP_003110.1. NM_003119.3. [Q9UQ90-1 ]
NP_955399.1. NM_199367.2. [Q9UQ90-2 ]
UniGenei Hs.185597.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2QZ4 X-ray 2.22 A 305-565 [» ]
ProteinModelPortali Q9UQ90.
SMRi Q9UQ90. Positions 158-245, 305-755.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112565. 14 interactions.
IntActi Q9UQ90. 15 interactions.
MINTi MINT-3083741.
STRINGi 9606.ENSP00000268704.

Protein family/group databases

MEROPSi M41.006.

PTM databases

PhosphoSitei Q9UQ90.

Polymorphism databases

DMDMi 116242796.

Proteomic databases

MaxQBi Q9UQ90.
PaxDbi Q9UQ90.
PRIDEi Q9UQ90.

Protocols and materials databases

DNASUi 6687.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000268704 ; ENSP00000268704 ; ENSG00000197912 . [Q9UQ90-1 ]
ENST00000341316 ; ENSP00000341157 ; ENSG00000197912 . [Q9UQ90-2 ]
GeneIDi 6687.
KEGGi hsa:6687.
UCSCi uc002fni.3. human. [Q9UQ90-2 ]
uc002fnj.3. human. [Q9UQ90-1 ]

Organism-specific databases

CTDi 6687.
GeneCardsi GC16P089559.
GeneReviewsi SPG7.
HGNCi HGNC:11237. SPG7.
MIMi 602783. gene.
607259. phenotype.
neXtProti NX_Q9UQ90.
Orphaneti 250932. Autosomal dominant optic atrophy and peripheral neuropathy.
99013. Autosomal recessive spastic paraplegia type 7.
PharmGKBi PA36067.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0465.
HOGENOMi HOG000217277.
HOVERGENi HBG050184.
InParanoidi Q9UQ90.
KOi K09552.
OMAi MMDHEAK.
OrthoDBi EOG7HF1HP.
PhylomeDBi Q9UQ90.
TreeFami TF105003.

Miscellaneous databases

ChiTaRSi SPG7. human.
EvolutionaryTracei Q9UQ90.
GeneWikii Paraplegin.
SPG7.
GenomeRNAii 6687.
NextBioi 26057.
PROi Q9UQ90.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UQ90.
Bgeei Q9UQ90.
CleanExi HS_SPG7.
Genevestigatori Q9UQ90.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
HAMAPi MF_01458. FtsH.
InterProi IPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR005936. FtsH.
IPR027417. P-loop_NTPase.
IPR011546. Pept_M41_FtsH_extracell.
IPR000642. Peptidase_M41.
[Graphical view ]
Pfami PF00004. AAA. 1 hit.
PF06480. FtsH_ext. 1 hit.
PF01434. Peptidase_M41. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR01241. FtsH_fam. 1 hit.
ProtoNeti Search...

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: September 3, 2014
This is version 147 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

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

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