P57055 (DSCR6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein ripply3

Alternative name(s):
Down syndrome critical region protein 6

Gene names

Name:	DSCR6
Synonyms:	RIPPLY3

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	190 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Nucleus By similarity.
Tissue specificity	Expressed at a low level in fetal kidney and fetal brain. Ref.1
Domain	The ripply homology domain is required for transcriptional repression By similarity. The WRPW motif is required for binding to tle/groucho proteins By similarity.
Sequence similarities	Belongs to the ripply family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	heart development Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara pharyngeal system development Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: P57055-1)

Also known as: A;

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: P57055-2)

Also known as: B; C; D;

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 190	190	Protein ripply3		PRO_0000080020
Regions
	Region	77 – 112	36	Ripply homology domain
	Motif	39 – 42	4	WRPW motif
Natural variations
	Alternative sequence	1 – 84	84	Missing in isoform 2.		VSP_004205

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified December 1, 2000. Version 1. Checksum: BF1C3EBD19375E1E	FASTA	190	20,368
	10 20 30 40 50 60 MEPEAAAGAR KARGRGCHCP GDAPWRPPPP RGPESPAPWR PWIQTPGDAE LTRTGRPLEP 70 80 90 100 110 120 RADQHTFGSK GAFGFQHPVR VYLPMSKRQE YLRSSGEQVL ASFPVQATID FYDDESTESA 130 140 150 160 170 180 SEAEEPEEGP PPLHLLPQEV GGRQENGPGG KGRDQGINQG QRSSGGGDHW GEGPLPQGVS 190 SRGGKCSSSK
	Isoform 2 (B) (C) (D) [UniParc]. Checksum: 67613F566A2ED34B	FASTA	106	11,198
	10 20 30 40 50 60 MSKRQEYLRS SGEQVLASFP VQATIDFYDD ESTESASEAE EPEEGPPPLH LLPQEVGGRQ 70 80 90 100 ENGPGGKGRD QGINQGQRSS GGGDHWGEGP LPQGVSSRGG KCSSSK

References

[1]

"Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2." Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Shimizu N. Biochem. Biophys. Res. Commun. 271:693-698(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY. Tissue: Fetal brain, Fetal kidney, Fetal retina and Fetal testis.

[2]

"Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites." Kawamura A., Koshida S., Hijikata H., Ohbayashi A., Kondoh H., Takada S. Dev. Cell 9:735-744(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION AS RIPPLY3.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB037158 mRNA. Translation: BAA96867.1. AB037159 mRNA. Translation: BAA96868.1. AB037160 mRNA. Translation: BAA96869.1. AB037161 mRNA. Translation: BAA96870.1.
IPI	IPI00025671. IPI00220689.
RefSeq	NP_061835.1. NM_018962.2.
UniGene	Hs.254560.
3D structure databases
ProteinModelPortal	P57055.
ModBase	Search...
PTM databases
PhosphoSite	P57055.
Polymorphism databases
DMDM	9973058.
Proteomic databases
PaxDb	P57055.
PRIDE	P57055.
Protocols and materials databases
DNASU	53820.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329553; ENSP00000331734; ENSG00000183145.
GeneID	53820.
KEGG	hsa:53820.
UCSC	uc002yvv.3. human.
Organism-specific databases
CTD	53820.
GeneCards	GC21P038378.
H-InvDB	HIX0040841.
HGNC	HGNC:3047. DSCR6.
HPA	HPA055541.
MIM	609892. gene.
neXtProt	NX_P57055.
PharmGKB	PA27499.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42572.
HOGENOM	HOG000088628.
InParanoid	P57055.
OMA	PGGKGRD.
OrthoDB	EOG41ZFC7.
PhylomeDB	P57055.
Gene expression databases
Bgee	P57055.
CleanEx	HS_DSCR6.
Genevestigator	P57055.
GermOnline	ENSG00000183145. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	53820.
NextBio	56124.
SOURCE	Search...

Entry information

Entry name

DSCR6_HUMAN

Accession

Primary (citable) accession number: P57055

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	December 1, 2000
Last modified:	May 1, 2013
This is version 78 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.