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

    Gene ID: 6687, updated on 23-Nov-2023

    Summary

    Official Symbol
    SPG7provided by HGNC
    Official Full Name
    SPG7 matrix AAA peptidase subunit, parapleginprovided by HGNC
    Primary source
    HGNC:HGNC:11237
    See related
    Ensembl:ENSG00000197912 MIM:602783; AllianceGenome:HGNC:11237
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.5), skin (RPKM 10.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPG7 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89508388..89557768)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (95589029..95638316)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89574796..89624176)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain containing 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89524753-89525254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89525255-89525754 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89529183-89530171 Neighboring gene CMPK1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89553656-89554156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89554157-89554657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11413 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:89555515-89556028 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:89556029-89556543 Neighboring gene uncharacterized LOC101930112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7908 Neighboring gene uncharacterized LOC101927863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89585576-89586076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89586077-89586577 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:89588494-89589051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89589052-89589608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89601956-89602646 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:89625532-89625751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89630776-89631518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89631519-89632262 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:89640372-89640629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7916 Neighboring gene small nucleolar RNA, C/D box 68 Neighboring gene ribosomal protein L13 Neighboring gene copine 7

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37308, MGC126331, MGC126332

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
     
    enables peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of m-AAA complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial permeability transition pore complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    paraplegin
    Names
    SPG7, paraplegin matrix AAA peptidase subunit
    cell matrix adhesion regulator
    spastic paraplegia 7 (pure and complicated autosomal recessive)
    spastic paraplegia 7 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5007..54370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363850.1NP_001350779.1  paraplegin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC092123, BC036104, BC052587, HY006239, Y16610
      Consensus CDS
      CCDS92212.1
      UniProtKB/TrEMBL
      A0A2R8Y3M4, A0A2U3TZH1
      Related
      ENSP00000493590.1, ENST00000645063.1
      Conserved Domains (2) summary
      pfam06480
      Location:145242
      FtsH_ext; FtsH Extracellular
      cl27568
      Location:265729
      TIP49; TIP49 C-terminus
    2. NM_003119.4NP_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)
      BC036104, HY006239, Y16610
      Consensus CDS
      CCDS10977.1
      UniProtKB/Swiss-Prot
      O75756, Q2TB70, Q58F00, Q96IB0, Q9UQ90
      UniProtKB/TrEMBL
      A0A2U3TZH1
      Related
      ENSP00000495795.2, ENST00000645818.2
      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
    3. NM_199367.3NP_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/TrEMBL
      A0A2R8Y729
      Related
      ENSP00000341157.2, ENST00000341316.6
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      89508388..89557768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023598.2XP_016879087.1  paraplegin isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y6E8
    2. XM_047434538.1XP_047290494.1  paraplegin isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y6E8, A0A2R8YFJ7
      Related
      ENSP00000493908.1, ENST00000645042.1
    3. XM_005256321.5XP_005256378.1  paraplegin isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y632, A0A2R8Y7N2
      Related
      ENSP00000495219.1, ENST00000646930.1
      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
    4. XM_047434539.1XP_047290495.1  paraplegin isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y7N2
    5. XM_047434537.1XP_047290493.1  paraplegin isoform X2

    6. XM_047434540.1XP_047290496.1  paraplegin isoform X6

      UniProtKB/TrEMBL
      A0A2R8YGZ0
      Related
      ENSP00000496434.1, ENST00000646445.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      95589029..95638316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313779.1XP_054169754.1  paraplegin isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y6E8
    2. XM_054313781.1XP_054169756.1  paraplegin isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y6E8, A0A2R8YFJ7
    3. XM_054313782.1XP_054169757.1  paraplegin isoform X5

      UniProtKB/TrEMBL
      A0A2R8Y632, A0A2R8Y7N2
    4. XM_054313780.1XP_054169755.1  paraplegin isoform X2

    5. XM_054313783.1XP_054169758.1  paraplegin isoform X7

      UniProtKB/TrEMBL
      A0A2R8YGZ0