Q8N0X7 (SPG20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Spartin

Alternative name(s):
Spastic paraplegia 20 protein
Trans-activated by hepatitis C virus core protein 1

Gene names

Name:	SPG20
Synonyms:	KIAA0610, TAHCCP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	666 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be implicated in endosomal trafficking, or microtubule dynamics, or both. Ref.6
Subunit structure	Interacts with ITCH and WWP1. Ref.9
Subcellular location	Cytoplasm. Note: Transiently associated with endosomes. Ref.9
Tissue specificity	Ubiquitously expressed, with highest levels of expression detected in adipose tissue.
Post-translational modification	Ubiquitinated; ubiquitination does not require ITCH and WWP1. Ref.9
Involvement in disease	Spastic paraplegia autosomal recessive 20 (SPG20) [MIM:275900]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1
Sequence similarities	Contains 1 MIT domain.
Sequence caution	The sequence BAA25536.1 differs from that shown. Reason: Erroneous initiation. The sequence CAC17479.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm
Disease	Hereditary spastic paraplegia Neurodegeneration
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	abscission Inferred from mutant phenotype PubMed 20719964. Source: UniProtKB adipose tissue development Inferred from electronic annotation. Source: Compara cell death Inferred from electronic annotation. Source: UniProtKB-KW cell division Inferred from mutant phenotype PubMed 20719964. Source: UniProtKB cytokinesis Inferred from electronic annotation. Source: Compara lipid particle organization Inferred from electronic annotation. Source: Compara negative regulation of BMP signaling pathway Inferred from electronic annotation. Source: Compara negative regulation of collateral sprouting in absence of injury Inferred from electronic annotation. Source: Compara neuromuscular process Inferred from electronic annotation. Source: Compara regulation of mitochondrial membrane potential Inferred from mutant phenotype PubMed 21559443. Source: MGI
Cellular_component	lipid particle Inferred from electronic annotation. Source: Compara midbody Inferred from direct assay PubMed 20719964. Source: UniProtKB mitochondrial outer membrane Inferred from direct assay PubMed 21559443. Source: MGI synapse Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 666

666

Spartin

PRO_0000072119

Regions

Domain

16 – 94

79

MIT

Amino acid modifications

Modified residue

470

1

Phosphoserine Ref.8 Ref.10

Cross-link

362

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.7

Experimental info

Mutagenesis

171 – 174

4

PPAY → AAAA: Abolishes interaction with ITCH and WWP1. Ref.9

Sequence conflict

69

1

P → T in AAH47083. Ref.5

Sequence conflict

417

1

P → H in AAH47083. Ref.5

Secondary structure

1

.

.

.

.

.

.

.

666

Helix Strand Turn

Details...

Helix

12 – 36

25

Helix

39 – 57

19

Helix

70 – 99

30

Sequences

	Sequence		Length	Mass (Da)
	Q8N0X7 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: CFC8DF65494427CE	FASTA	666	72,833
	10 20 30 40 50 60 MEQEPQNGEP AEIKIIREAY KKAFLFVNKG LNTDELGQKE EAKNYYKQGI GHLLRGISIS 70 80 90 100 110 120 SKESEHTGPG WESARQMQQK MKETLQNVRT RLEILEKGLA TSLQNDLQEV PKLYPEFPPK 130 140 150 160 170 180 DMCEKLPEPQ SFSSAPQHAE VNGNTSTPSA GAVAAPASLS LPSQSCPAEA PPAYTPQAAE 190 200 210 220 230 240 GHYTVSYGTD SGEFSSVGEE FYRNHSQPPP LETLGLDADE LILIPNGVQI FFVNPAGEVS 250 260 270 280 290 300 APSYPGYLRI VRFLDNSLDT VLNRPPGFLQ VCDWLYPLVP DRSPVLKCTA GAYMFPDTML 310 320 330 340 350 360 QAAGCFVGVV LSSELPEDDR ELFEDLLRQM SDLRLQANWN RAEEENEFQI PGRTRPSSDQ 370 380 390 400 410 420 LKEASGTDVK QLDQGNKDVR HKGKRGKRAK DTSSEEVNLS HIVPCEPVPE EKPKELPEWS 430 440 450 460 470 480 EKVAHNILSG ASWVSWGLVK GAEITGKAIQ KGASKLRERI QPEEKPVEVS PAVTKGLYIA 490 500 510 520 530 540 KQATGGAAKV SQFLVDGVCT VANCVGKELA PHVKKHGSKL VPESLKKDKD GKSPLDGAMV 550 560 570 580 590 600 VAASSVQGFS TVWQGLECAA KCIVNNVSAE TVQTVRYKYG YNAGEATHHA VDSAVNVGVT 610 620 630 640 650 660 AYNINNIGIK AMVKKTATQT GHTLLEDYQI VDNSQRENQE GAANVNVRGE KDEQTKEVKE AKKKDK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia." Patel H., Cross H., Proukakis C., Hershberger R., Bork P., Ciccarelli F.D., Patton M.A., McKusick V.A., Crosby A.H. Nat. Genet. 31:347-348(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], INVOLVEMENT IN SPG20.
[2]	"Identification of the genomic DNA structure for a gene trans-activated by hepatitis C virus core protein 1." Liu Y., Cheng J., Wang G., Dong J., Li K., Li L., Zhang L. Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]	"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[4]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia." Ciccarelli F.D., Proukakis C., Patel H., Cross H., Azam S., Patton M.A., Bork P., Crosby A.H. Genomics 81:437-441(2003) [PubMed] [Europe PMC] [Abstract] Cited for: DOMAIN MIT, PROBABLE FUNCTION.
[7]	"Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry." Meierhofer D., Wang X., Huang L., Kaiser P. J. Proteome Res. 7:4566-4576(2008) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-362, MASS SPECTROMETRY.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5." Edwards T.L., Clowes V.E., Tsang H.T., Connell J.W., Sanderson C.M., Luzio J.P., Reid E. Biochem. J. 423:31-39(2009) [PubMed] [Europe PMC] [Abstract] Cited for: UBIQUITINATION, SUBCELLULAR LOCATION, INTERACTION WITH ITCH AND WWP1, MUTAGENESIS OF 171-PRO--TYR-174.
[10]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]	"Solution structure of the MIT domain from human spartin." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 8-111.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY123329 mRNA. Translation: AAM76671.1.
AY123337 , AY123331, AY123332, AY123333, AY123334, AY123335, AY123336 Genomic DNA. Translation: AAM76672.1.
AY038934 Genomic DNA. Translation: AAK71883.1.
AY038359 mRNA. Translation: AAK72374.1.
AB011182 mRNA. Translation: BAA25536.1. Different initiation.
AL139377 Genomic DNA. Translation: CAC17479.1. Different initiation.
BC047083 mRNA. Translation: AAH47083.1.

IPI

IPI00430622.

PIR

T00255.

RefSeq

NP_001135766.1. NM_001142294.1.
NP_001135767.1. NM_001142295.1.
NP_001135768.1. NM_001142296.1.
NP_055902.1. NM_015087.4.

UniGene

Hs.440414.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DL1	NMR	-	A	9-111	[»]

ProteinModelPortal

Q8N0X7.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q8N0X7. 24 interactions.

MINT

MINT-1190043.

STRING

9606.ENSP00000347314.

PTM databases

PhosphoSite

Q8N0X7.

Polymorphism databases

DMDM

50401600.

Proteomic databases

PaxDb

Q8N0X7.

PeptideAtlas

Q8N0X7.

PRIDE

Q8N0X7.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000355182; ENSP00000347314; ENSG00000133104.
ENST00000423217; ENSP00000416434; ENSG00000133104.
ENST00000438666; ENSP00000406061; ENSG00000133104.
ENST00000451493; ENSP00000414147; ENSG00000133104.

GeneID

23111.

KEGG

hsa:23111.

UCSC

uc001uvm.3. human.

Organism-specific databases

CTD

23111.

GeneCards

GC13M036875.

HGNC

HGNC:18514. SPG20.

HPA

HPA039053.

MIM

275900. phenotype.
607111. gene.

neXtProt

NX_Q8N0X7.

Orphanet

101000. Autosomal recessive spastic paraplegia type 20.

PharmGKB

PA134871645.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG70074.

HOGENOM

HOG000015747.

HOVERGEN

HBG079206.

InParanoid

Q8N0X7.

OMA

LRLQANW.

OrthoDB

EOG4BZN29.

Gene expression databases

Bgee

Q8N0X7.

CleanEx

HS_SPG20.

Genevestigator

Q8N0X7.

GermOnline

ENSG00000133104. Homo sapiens.

Family and domain databases

InterPro

IPR007330. MIT.
IPR009686. Senescence/spartin.
[Graphical view]

Pfam

PF04212. MIT. 1 hit.
PF06911. Senescence. 1 hit.
[Graphical view]

SMART

SM00745. MIT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q8N0X7.

GenomeRNAi

23111.

NextBio

44307.

SOURCE

Search...

Entry information

Entry name

SPG20_HUMAN

Accession

Primary (citable) accession number: Q8N0X7
Secondary accession number(s): O60349 , Q86Y67, Q9H1T2, Q9H1T3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.