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SPG7 SPG7, paraplegin matrix AAA peptidase subunit [ Homo sapiens (human) ]

Gene ID: 6687, updated on 8-Oct-2017
Official Symbol
SPG7provided by HGNC
Official Full Name
SPG7, paraplegin matrix AAA peptidase subunitprovided by HGNC
Primary source
HGNC:HGNC:11237
See related
Ensembl:ENSG00000197912 MIM:602783; Vega:OTTHUMG00000138046
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAR; PGN; CMAR; SPG5C
Summary
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]
Orthologs
Location:
16q24.3
Exon count:
22
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (89508379..89557768)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89574802..89624174)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 11 Neighboring gene cytidine/uridine monophosphate kinase 1 pseudogene Neighboring gene uncharacterized LOC101930112 Neighboring gene uncharacterized LOC101927863 Neighboring gene small nucleolar RNA, C/D box 68 Neighboring gene ribosomal protein L13 Neighboring gene copine 7

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of spastic paraplegia 7 (SPG7) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ37308, MGC126331, MGC126332

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anterograde axonal transport IEA
Inferred from Electronic Annotation
more info
 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
m-AAA complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
paraplegin
Names
cell matrix adhesion regulator
paraplegin, isoform 1
spastic paraplegia 7 (pure and complicated autosomal recessive)
spastic paraplegia 7 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008082.1 RefSeqGene

    Range
    4992..54372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003119.3NP_003110.1  paraplegin isoform 1 precursor

    See identical proteins and their annotated locations for NP_003110.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW250773, BC036104, HY006239, Y16610
    Consensus CDS
    CCDS10977.1
    UniProtKB/Swiss-Prot
    Q9UQ90
    Related
    ENSP00000268704.2, OTTHUMP00000175348, ENST00000268704.6, OTTHUMT00000269921
    Conserved Domains (5) summary
    TIGR01241
    Location:265748
    FtsH_fam; ATP-dependent metalloprotease FtsH
    pfam00004
    Location:346479
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam01434
    Location:561746
    Peptidase_M41; Peptidase family M41
    pfam06480
    Location:145242
    FtsH_ext; FtsH Extracellular
    cl21455
    Location:308364
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_199367.2NP_955399.1  paraplegin isoform 2 precursor

    See identical proteins and their annotated locations for NP_955399.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) contains a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC007692, CA447374, HY006239, Y16610
    Consensus CDS
    CCDS10978.1
    UniProtKB/Swiss-Prot
    Q9UQ90
    Related
    ENSP00000341157.2, OTTHUMP00000175349, ENST00000341316.6, OTTHUMT00000269922
    Conserved Domains (3) summary
    pfam00004
    Location:346447
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam06480
    Location:145242
    FtsH_ext; FtsH Extracellular
    cl21455
    Location:308364
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

    Range
    89508379..89557768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721264.3XP_006721327.1  paraplegin isoform X1

    Conserved Domains (5) summary
    TIGR01241
    Location:265729
    FtsH_fam; ATP-dependent metalloprotease FtsH
    pfam00004
    Location:346479
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam01434
    Location:561729
    Peptidase_M41; Peptidase family M41
    pfam06480
    Location:145242
    FtsH_ext; FtsH Extracellular
    cl21455
    Location:308364
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_017023598.1XP_016879087.1  paraplegin isoform X3

  3. XM_017023597.1XP_016879086.1  paraplegin isoform X2

  4. XM_005256321.4XP_005256378.1  paraplegin isoform X5

    Conserved Domains (3) summary
    pfam00004
    Location:346441
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam06480
    Location:145242
    FtsH_ext; FtsH Extracellular
    cl21455
    Location:308364
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_017023599.1XP_016879088.1  paraplegin isoform X4

    UniProtKB/Swiss-Prot
    Q9UQ90
    Conserved Domains (3) summary
    pfam00004
    Location:346447
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam06480
    Location:145242
    FtsH_ext; FtsH Extracellular
    cl21455
    Location:308364
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_001751972.1 RNA Sequence

  2. XR_001751971.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    90986076..91035447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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