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    SPART spartin [ Homo sapiens (human) ]

    Gene ID: 23111, updated on 23-Nov-2023

    Summary

    Official Symbol
    SPARTprovided by HGNC
    Official Full Name
    spartinprovided by HGNC
    Primary source
    HGNC:HGNC:18514
    See related
    Ensembl:ENSG00000133104 MIM:607111; AllianceGenome:HGNC:18514
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPART in Genome Data Viewer
    Location:
    13q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36301638..36370180, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (35521139..35589682, complement)
    105.20220307 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 MPRA-validated peak2068 silencer Neighboring gene coiled-coil domain containing 169 Neighboring gene Sharpr-MPRA regulatory region 14903 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36871578-36872539 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36872540-36873502 Neighboring gene NANOG hESC enhancer GRCh37_chr13:36887598-36888362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36890200-36891034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36891035-36891868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36894061-36894764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36895467-36896169 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36896170-36896871 Neighboring gene Sharpr-MPRA regulatory region 3304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5263 Neighboring gene SPART antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:36962882-36963065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5266 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:37011626-37012825 Neighboring gene cyclin A1 Neighboring gene H2AC histone family pseudogene 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0610

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in abscission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in collateral sprouting in absence of injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid droplet organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of collateral sprouting in absence of injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    spartin
    Names
    spastic paraplegia 20 (Troyer syndrome)
    trans-activated by hepatitis C virus core protein 1

    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_011559.2 RefSeqGene

      Range
      28787..73543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142294.2NP_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
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    2. NM_001142295.2NP_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
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    3. NM_001142296.2NP_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
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      Related
      ENSP00000473599.1, ENST00000494062.2
      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:427611
      Senescence; Senescence-associated protein
    4. NM_015087.5NP_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, DA710623
      Consensus CDS
      CCDS9356.1
      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      Related
      ENSP00000406061.2, ENST00000438666.7
      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:427611
      Senescence; Senescence-associated protein

    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_000013.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005266314.4XP_005266371.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266371.1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    2. XM_047430211.1XP_047286167.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    3. XM_011535012.3XP_011533314.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_011533314.1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    4. XM_005266313.6XP_005266370.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266370.1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    5. XM_047430213.1XP_047286169.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    6. XM_024449334.2XP_024305102.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    7. XM_047430210.1XP_047286166.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    8. XM_005266317.4XP_005266374.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266374.1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    9. XM_005266315.4XP_005266372.1  spartin isoform X1

      See identical proteins and their annotated locations for XP_005266372.1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
      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:427611
      Senescence; Senescence-associated protein
    10. XM_047430209.1XP_047286165.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    11. XM_047430212.1XP_047286168.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9

    RNA

    1. XR_007063671.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      35521139..35589682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374304.1XP_054230279.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    2. XM_054374298.1XP_054230273.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    3. XM_054374308.1XP_054230283.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    4. XM_054374309.1XP_054230284.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    5. XM_054374301.1XP_054230276.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    6. XM_054374300.1XP_054230275.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    7. XM_054374307.1XP_054230282.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    8. XM_054374302.1XP_054230277.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    9. XM_054374306.1XP_054230281.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    10. XM_054374299.1XP_054230274.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    11. XM_054374305.1XP_054230280.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9
    12. XM_054374303.1XP_054230278.1  spartin isoform X1

      UniProtKB/Swiss-Prot
      O60349, Q86Y67, Q8N0X7, Q9H1T2, Q9H1T3
      UniProtKB/TrEMBL
      A0A024RDV9, A8K6Q9

    RNA

    1. XR_008488749.1 RNA Sequence