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SPART spartin [ Homo sapiens (human) ]

Gene ID: 23111, updated on 3-Jun-2018
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
See SPART in Genome Data Viewer
Location:
13q13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 HIST1H2A 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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:427611
    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:427611
    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:427611
    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:427611
    Senescence; Senescence-associated protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 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:427611
    Senescence; Senescence-associated protein
  2. XM_024449334.1XP_024305102.1  spartin isoform X1

    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. 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:427611
    Senescence; Senescence-associated protein
  4. XM_005266313.5XP_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:427611
    Senescence; Senescence-associated protein
  5. 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:427611
    Senescence; Senescence-associated protein
  6. 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:427611
    Senescence; Senescence-associated protein

RNA

  1. XR_001749523.2 RNA Sequence

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