Reviewed, UniProtKB/Swiss-Prot Q8WUW1 (BRK1_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable protein BRICK1

Gene names

Name:	C3orf10
ORF Names:	HSPC300, MDS027

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

General annotation (Comments)

Function	Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex By similarity.
Subunit structure	Directly interacts with WASF2. Ref.4
Subcellular location	Cytoplasm › cytoskeleton By similarity.
Involvement in disease	Deletion of C3orf10 prevents the development of clear cell renal carcinoma in Von Hippel-Lindau patients. Ref.6
Sequence similarities	Belongs to the BRK1 family.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8WUW1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8WUW1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     75-75: T → TRTVPCCCWEVALHNTGHMGKAPAAFSSFLSP

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 75	75	Probable protein BRICK1		PRO_0000283646
Regions
	Coiled coil	41 – 72	32	Potential
Natural variations
	Alternative sequence	75	1	T → TRTVPCCCWEVALHNTGHMG KAPAAFSSFLSP in isoform 2.		VSP_024350

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 637B5461A2D96587	FASTA	75	8,745
	10 20 30 40 50 60 MAGQEDPVQR EIHQDWANRE YIEIITSSIK KIADFLNSFD MSCRSRLATL NEKLTALERR 70 IEYIEARVTK GETLT
	Isoform 2. Checksum: 908E7A141251DFE5	FASTA	106	12,046
	10 20 30 40 50 60 MAGQEDPVQR EIHQDWANRE YIEIITSSIK KIADFLNSFD MSCRSRLATL NEKLTALERR 70 80 90 100 IEYIEARVTK GETLTRTVPC CCWEVALHNT GHMGKAPAAF SSFLSP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Xu Q., Duan R., Huo Y., Fan B., Zhang K., Wu D. Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fetal brain and Lung.
[2]	"Human partial CDS from CD34+ stem cells." Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L., Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Umbilical cord blood.
[3]	"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] (ISOFORM 1). Tissue: Lung and Lymph.
[4]	"Purification and architecture of the ubiquitous Wave complex." Gautreau A., Ho H.-Y., Li J., Steen H., Gygi S.P., Kirschner M.W. Proc. Natl. Acad. Sci. U.S.A. 101:4379-4383(2004) [PubMed: 15070726] [Abstract] Cited for: INTERACTION WITH WASF2.
[5]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[6]	"Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients." Cascon A., Escobar B., Montero-Conde C., Rodriguez-Antona C., Ruiz-Llorente S., Osorio A., Mercadillo F., Leton R., Campos J.M., Garcia-Sagredo J.M., Benitez J., Malumbres M., Robledo M. Hum. Mutat. 28:613-621(2007) [PubMed: 17311301] [Abstract] Cited for: DISEASE.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY148219 mRNA. Translation: AAN60161.1. AY148220 mRNA. Translation: AAN60162.1. AF161418 mRNA. Translation: AAF28978.1. Different initiation. BC001067 mRNA. Translation: AAH01067.1. BC007929 mRNA. Translation: AAH07929.1. BC019303 mRNA. Translation: AAH19303.1.
IPI	IPI00000296. IPI00844425.
RefSeq	NP_060932.2.
UniGene	Hs.649307 Hs.707283
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q8WUW1.
Genome annotation databases
Ensembl	ENSG00000219870. Homo sapiens. [Contig view]
GeneID	55845.
KEGG	hsa:55845.
Organism-specific databases
GeneCards	GC03P010134.
HGNC	HGNC:23057. C3orf10.
MIM	611183. gene.
PharmGKB	PA134866423.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8WUW1.
Gene expression databases
Bgee	Q8WUW1.
CleanEx	HS_C3orf10.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	61091.
SOURCE	Search...

Entry information

Entry name

BRK1_HUMAN

Accession

Primary (citable) accession number: Q8WUW1
Secondary accession number(s): Q9P082

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	March 1, 2002
Last modified:	June 16, 2009
This is version 50 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)