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    SPART spartin [ Homo sapiens (human) ]

    Gene ID: 23111, updated on 19-Nov-2017
    Official Symbol
    SPARTprovided by HGNC
    Official Full Name
    spartinprovided by HGNC
    Primary source
    HGNC:HGNC:18514
    See related
    Ensembl:ENSG00000133104 MIM:607111; Vega:OTTHUMG00000016730
    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
    SPG20; TAHCCP1
    Summary
    This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 20.8), adrenal (RPKM 19.3) and 25 other tissues See more
    Orthologs
    Location:
    13q13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (36301638..36370180, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36875775..36944317, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CCDC169-SOHLH2 readthrough Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 2 Neighboring gene coiled-coil domain containing 169 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene SPART antisense RNA 1 Neighboring gene cyclin A1 Neighboring gene histone cluster 1 H2A pseudogene 6

    • 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?

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0610

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    abscission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid particle organization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of collateral sprouting in absence of injury IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    lipid droplet IEA
    Inferred from Electronic Annotation
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    spartin
    Names
    spastic paraplegia 20 (Troyer syndrome)
    trans-activated by hepatitis C virus core protein 1

    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_011559.1 RefSeqGene

      Range
      5001..73543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142294.1NP_001135766.1  spartin

      See identical proteins and their annotated locations for NP_001135766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AK057764, AL139377, BC047083, BU622545, DA347686
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Related
      ENSP00000347314.4, ENST00000355182.8
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    2. NM_001142295.1NP_001135767.1  spartin

      See identical proteins and their annotated locations for NP_001135767.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AL139377, BU622545, BX648004, DB282617
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Related
      ENSP00000414147.1, ENST00000451493.5
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    3. NM_001142296.1NP_001135768.1  spartin

      See identical proteins and their annotated locations for NP_001135768.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AL139377, BC026284, BU622545, DA507821
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Related
      ENSP00000473599.1, OTTHUMP00000272440, ENST00000494062.2, OTTHUMT00000044502
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    4. NM_015087.4NP_055902.1  spartin

      See identical proteins and their annotated locations for NP_055902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AB011182, AL139377, BU622545, DA507821, DA710623
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Related
      ENSP00000406061.2, OTTHUMP00000018254, ENST00000438666.6, OTTHUMT00000044494
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      36301638..36370180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266314.3XP_005266371.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266371.1

      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    2. XM_011535012.2XP_011533314.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_011533314.1

      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    3. XM_005266313.4XP_005266370.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266370.1

      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    4. XM_005266317.3XP_005266374.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266374.1

      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein
    5. XM_005266315.3XP_005266372.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266372.1

      UniProtKB/Swiss-Prot
      Q8N0X7
      UniProtKB/TrEMBL
      A0A024RDV9
      Conserved Domains (2) summary
      cd02679
      Location:1695
      MIT_spastin; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be ...
      pfam06911
      Location:427612
      Senescence; Senescence-associated protein

    RNA

    1. XR_001749523.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      36843258..36911860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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