O14972 (DSCR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Down syndrome critical region protein 3

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

Gene names

Name:	DSCR3
Synonyms:	DCRA, DSCRA

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

General annotation (Comments)

Tissue specificity	Ubiquitously expressed.
Sequence similarities	Belongs to the VPS26 family.

Ontologies

Keywords
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	vacuolar transport Inferred from electronic annotation. Source: InterPro
Cellular component	nucleus Inferred from direct assay. Source: UniProtKB retromer complex Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 297	297	Down syndrome critical region protein 3		PRO_0000073016
Amino acid modifications
	Modified residue	131	1	N6-acetyllysine Ref.5

Sequences

	Sequence		Length	Mass (Da)
	O14972 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 5CE40FEE9E6664D5	FASTA	297	33,010
	10 20 30 40 50 60 MGTALDIKIK RANKVYHAGE VLSGVVVISS KDSVQHQGVS LTMEGTVNLQ LSAKSVGVFE 70 80 90 100 110 120 AFYNSVKPIQ IINSTIEMVK PGKFPSGKTE IPFEFPLHLK GNKVLYETYH GVFVNIQYTL 130 140 150 160 170 180 RCDMKRSLLA KDLTKTCEFI VHSAPQKGKF TPSPVDFTIT PETLQNVKER ALLPKFLLRG 190 200 210 220 230 240 HLNSTNCVIT QPLTGELVVE SSEAAIRSVE LQLVRVETCG CAEGYARDAT EIQNIQIADG 250 260 270 280 290 DVCRGLSVPI YMVFPRLFTC PTLETTNFKV EFEVNIVVLL HPDHLITENF PLKLCRI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2." Nakamura A., Hattori M., Sakaki Y. J. Biochem. 122:872-877(1997) [PubMed: 9399594] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[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: 14702039] [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 (SEP-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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin.
[5]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-131, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D87343 mRNA. Translation: BAA23225.1. AK312707 mRNA. Translation: BAG35585.1. CH471079 Genomic DNA. Translation: EAX09714.1. BC110655 mRNA. Translation: AAI10656.1.
IPI	IPI00298946.
PIR	JC5698.
RefSeq	NP_006043.1. NM_006052.1.
UniGene	Hs.369488.
3D structure databases
ProteinModelPortal	O14972.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-47317N.
STRING	O14972.
PTM databases
PhosphoSite	O14972.
Proteomic databases
PRIDE	O14972.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000309117; ENSP00000311399; ENSG00000157538.
GeneID	10311.
KEGG	hsa:10311.
UCSC	uc002ywf.1. human.
Organism-specific databases
CTD	10311.
GeneCards	GC21M038591.
H-InvDB	HIX0022605.
HGNC	HGNC:3044. DSCR3.
HPA	HPA023288.
MIM	605298. gene.
neXtProt	NX_O14972.
PharmGKB	PA27496.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14074.
GeneTree	ENSGT00390000009324.
HOGENOM	HBG320149.
HOVERGEN	HBG051411.
InParanoid	O14972.
OMA	DVCRGLS.
PhylomeDB	O14972.
Gene expression databases
ArrayExpress	O14972.
Bgee	O14972.
CleanEx	HS_DSCR3.
Genevestigator	O14972.
GermOnline	ENSG00000157538. Homo sapiens.
Family and domain databases
InterPro	IPR005377. VPS26. [Graphical view]
Pfam	PF03643. Vps26. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	39075.
SOURCE	Search...

Entry information

Entry name

DSCR3_HUMAN

Accession

Primary (citable) accession number: O14972
Secondary accession number(s): B2R6T8, D3DSH4, Q2TAY6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	January 1, 1998
Last modified:	January 25, 2012
This is version 79 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.