Reviewed, UniProtKB/Swiss-Prot Q8N0X7 (SPG20_HUMAN)

Names and origin

Protein names

Recommended name:
    Spartin
Alternative name(s):
    Trans-activated by hepatitis C virus core protein 1

Gene names

Name:	SPG20
Synonyms:	KIAA0610, TAHCCP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	666 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May be implicated in endosomal trafficking, or microtubule dynamics, or both. Ref.6
Tissue specificity	Ubiquitously expressed, with highest levels of expression detected in adipose tissue.
Involvement in disease	Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20) [MIM:275900]; also known as Troyer syndrome (TRS). Spastic paraplegia is 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. Ref.1
Sequence similarities	Contains 1 MIT domain.

Ontologies

Keywords
Disease	Hereditary spastic paraplegia Neurodegeneration
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	3D-structure
Gene Ontology (GO)
Biological process	cell death Inferred from electronic annotation. Source: UniProtKB-KW
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
	Cross-link	362		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.7
Experimental info
	Sequence conflict	69	1	P → T in AAH47083. Ref.5
	Sequence conflict	417	1	P → H in AAH47083. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q8N0X7-1 [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: 12134148] [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: 9628581] [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: 15057823] [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: 15489334] [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: 12676568] [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: 18781797] [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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-470, MASS SPECTROMETRY.
[9]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[10]	"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

EMBLGenBankDDBJ

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.
NP_001135767.1.
NP_001135768.1.
NP_055902.1.

UniGene

Hs.440414

3D structure databases

PDBPDBe

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

ModBase

Search...

PTM databases

PhosphoSite

Q8N0X7.

Proteomic databases

PeptideAtlas

Q8N0X7.

PRIDE

Q8N0X7.

Genome annotation databases

Ensembl

ENSG00000133104. Homo sapiens. [Contig view]

GeneID

23111.

KEGG

hsa:23111.

Organism-specific databases

GeneCards

GC13M035773.

HGNC

HGNC:18514. SPG20.

MIM

275900. phenotype.
607111. gene.

Orphanet

101000. Autosomal recessive spastic paraplegia, type 20.
685. Familial spastic paraplegia.

PharmGKB

PA134871645.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q8N0X7.

HOVERGEN

Q8N0X7.

OMA

Q8N0X7. GLECAAK.

Gene expression databases

ArrayExpress

Q8N0X7.

Bgee

Q8N0X7.

CleanEx

HS_SPG20.

GermOnline

ENSG00000133104. Homo sapiens.

Family and domain databases

InterPro

IPR007330. MIT.
[Graphical view]

Pfam

PF04212. MIT. 1 hit.
[Graphical view]

SMART

SM00745. MIT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

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:	June 16, 2009
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)