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SPG20 spastic paraplegia 20 (Troyer syndrome) [ Homo sapiens (human) ]

Gene ID: 23111, updated on 19-Jul-2014
Official Symbol
SPG20provided by HGNC
Official Full Name
spastic paraplegia 20 (Troyer syndrome)provided by HGNC
Primary source
HGNC:18514
See related
Ensembl:ENSG00000133104; HPRD:06170; 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
SPARTIN; 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]
See SPG20 in Epigenomics, MapViewer
Location:
13q13.3
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC102723477 Neighboring gene coiled-coil domain containing 169 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene SPG20 opposite strand Neighboring gene cyclin A1 Neighboring gene HIST1H2A pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
abscission IMP
Inferred from Mutant Phenotype
more info
 
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
cell death IEA
Inferred from Electronic Annotation
more info
 
cell division IMP
Inferred from Mutant Phenotype
more info
 
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
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
lipid particle IEA
Inferred from Electronic Annotation
more info
 
midbody IDA
Inferred from Direct Assay
more info
 
mitochondrial outer membrane 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
spartin
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 

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

mRNA and Protein(s)

  1. NM_001142294.1NP_001135766.1  spartin

    See proteins identical to 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
    Related
    ENSP00000347314, ENST00000355182
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  2. NM_001142295.1NP_001135767.1  spartin

    See proteins identical to 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
    Related
    ENSP00000414147, ENST00000451493
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  3. NM_001142296.1NP_001135768.1  spartin

    See proteins identical to 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
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  4. NM_015087.4NP_055902.1  spartin

    See proteins identical to 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
    Related
    ENSP00000406061, OTTHUMP00000018254, ENST00000438666, OTTHUMT00000044494
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

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

mRNA and Protein(s)

  1. XM_005266316.1XP_005266373.1  

    See proteins identical to XP_005266373.1

    UniProtKB/Swiss-Prot
    Q8N0X7
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  2. XM_005266314.1XP_005266371.1  

    See proteins identical to XP_005266371.1

    UniProtKB/Swiss-Prot
    Q8N0X7
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  3. XM_005266313.2XP_005266370.1  

    See proteins identical to XP_005266370.1

    UniProtKB/Swiss-Prot
    Q8N0X7
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  4. XM_005266317.1XP_005266374.1  

    See proteins identical to XP_005266374.1

    UniProtKB/Swiss-Prot
    Q8N0X7
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein
  5. XM_005266315.1XP_005266372.1  

    See proteins identical to XP_005266372.1

    UniProtKB/Swiss-Prot
    Q8N0X7
    Conserved Domains (2) summary
    cd02679
    Location:1695
    Blast Score: 281
    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:427613
    Blast Score: 532
    Senescence; Senescence-associated protein

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    17687578..17756402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

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