Q12768 (STRUM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WASH complex subunit strumpellin

Gene names

Name:

KIAA0196

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	1159 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Ref.6
Subunit structure	Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53. Ref.6
Tissue specificity	Expressed ubiquitously.
Involvement in disease	Spastic paraplegia autosomal dominant 8 (SPG8) [MIM:603563]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Belongs to the strumpellin family.
Sequence caution	The sequence BAA12109.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Disease	Disease mutation Hereditary spastic paraplegia Neurodegeneration
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW endosomal transport Inferred from electronic annotation. Source: Compara
Cellular_component	WASH complex Inferred from direct assay Ref.6. Source: UniProtKB endosome 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 – 1159	1159	WASH complex subunit strumpellin		PRO_0000050733
Amino acid modifications
	Modified residue	917	1	Phosphoserine Ref.5
Natural variations
	Natural variant	471	1	N → D in SPG8. Ref.8		VAR_031955
	Natural variant	619	1	L → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. Ref.8		VAR_031956
	Natural variant	626	1	V → F in SPG8; fails to rescue the curly phenotype in a zebrafish model. Ref.8		VAR_031957
Experimental info
	Sequence conflict	229	1	L → R in AAH26951. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q12768 [UniParc]. Last modified November 1, 1997. Version 1. Checksum: D6156D359981FC5F	FASTA	1,159	134,286
	10 20 30 40 50 60 MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK YGDIIFDFSY 70 80 90 100 110 120 FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ SVHKYIVDLN RYLDDLNEGV 130 140 150 160 170 180 YIQQTLETVL LNEDGKQLLC EALYLYGVML LVIDQKIEGE VRERMLVSYY RYSAARSSAD 190 200 210 220 230 240 SNMDDICKLL RSTGYSSQPG AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA 250 260 270 280 290 300 YPLPEHRSTA LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL 310 320 330 340 350 360 VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL REEMVLDNIP 370 380 390 400 410 420 KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL TDSRYNPRIL FQLLLDTAQF 430 440 450 460 470 480 EFILKEMFKQ MLSEKQTKWE HYKKEGSERM TELADVFSGV KPLTRVEKNE NLQAWFREIS 490 500 510 520 530 540 KQILSLNYDD STAAGRKTVQ LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI 550 560 570 580 590 600 KEEVLITMQI VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI 610 620 630 640 650 660 NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII EVPTRLDKDK 670 680 690 700 710 720 LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV DPKQLLEDGI RKELVKRVAF 730 740 750 760 770 780 ALHRGLIFNP RAKPSELMPK LKELGATMDG FHRSFEYIQD YVNIYGLKIW QEEVSRIINY 790 800 810 820 830 840 NVEQECNNFL RTKIQDWQSM YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI 850 860 870 880 890 900 DQLNTWYDMK THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL 910 920 930 940 950 960 RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK VGQMQILRQQ 970 980 990 1000 1010 1020 IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL PYPKEDNTLL YEITAYLEAA 1030 1040 1050 1060 1070 1080 GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL 1090 1100 1110 1120 1130 1140 LTLLKQFHSR YTEQFLALIG QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR 1150 RVAEAHVPNF IFDEFRTVL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: Lung.
[5]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-917, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex." Derivery E., Sousa C., Gautier J.J., Lombard B., Loew D., Gautreau A. Dev. Cell 17:712-723(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION OF THE WASH COMPLEX, IDENTIFICATION IN THE WASH COMPLEX.
[7]	"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].
[8]	"Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia." Valdmanis P.N., Meijer I.A., Reynolds A., Lei A., MacLeod P., Schlesinger D., Zatz M., Reid E., Dion P.A., Drapeau P., Rouleau G.A. Am. J. Hum. Genet. 80:152-161(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SPG8 ASP-471; PHE-619 AND PHE-626, CHARACTERIZATION OF VARIANTS SPG8 PHE-619 AND PHE-626.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D83780 mRNA. Translation: BAA12109.2. Different initiation. AK291032 mRNA. Translation: BAF83721.1. CH471060 Genomic DNA. Translation: EAW92081.1. BC026951 mRNA. Translation: AAH26951.1. BC106015 mRNA. Translation: AAI06016.1.
IPI	IPI00029175.
RefSeq	NP_055661.3. NM_014846.3.
UniGene	Hs.270043.
3D structure databases
ProteinModelPortal	Q12768.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q12768. 2 interactions.
STRING	9606.ENSP00000318016.
PTM databases
PhosphoSite	Q12768.
Polymorphism databases
DMDM	2495719.
Proteomic databases
PaxDb	Q12768.
PRIDE	Q12768.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318410; ENSP00000318016; ENSG00000164961.
GeneID	9897.
KEGG	hsa:9897.
UCSC	uc003yrt.3. human.
Organism-specific databases
CTD	9897.
GeneCards	GC08M126201.
HGNC	HGNC:28984. KIAA0196.
HPA	CAB034216. CAB034219.
MIM	603563. phenotype. 610657. gene.
neXtProt	NX_Q12768.
Orphanet	100989. Autosomal dominant spastic paraplegia type 8.
PharmGKB	PA142671624.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG274491.
HOGENOM	HOG000258245.
HOVERGEN	HBG102793.
InParanoid	Q12768.
OMA	TQQAKMR.
OrthoDB	EOG4BVRST.
PhylomeDB	Q12768.
Gene expression databases
ArrayExpress	Q12768.
Bgee	Q12768.
CleanEx	HS_KIAA0196.
Genevestigator	Q12768.
GermOnline	ENSG00000164961. Homo sapiens.
Family and domain databases
InterPro	IPR019393. WASH_strumpellin. [Graphical view]
PANTHER	PTHR15691. PTHR15691. 1 hit.
Pfam	PF10266. Strumpellin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9897.
NextBio	37315.
SOURCE	Search...

Entry information

Entry name

STRUM_HUMAN

Accession

Primary (citable) accession number: Q12768
Secondary accession number(s): A8K4R7, Q3KQX5, Q8TBQ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1997
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.