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Q9UQ90

- SPG7_HUMAN

UniProt

Q9UQ90 - SPG7_HUMAN

Protein

Paraplegin

Gene

SPG7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    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

    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 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

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

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 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

    ArrayExpressiQ9UQ90.
    BgeeiQ9UQ90.
    CleanExiHS_SPG7.
    GenevestigatoriQ9UQ90.

    Interactioni

    Subunit structurei

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UQ90.

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei145 – 16521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei249 – 26921HelicalSequence AnalysisAdd
    BLAST

    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.
    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.

    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:
    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

    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: October 1, 2014
    This is version 148 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