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Protein

Down syndrome critical region protein 3

Gene

DSCR3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Down syndrome critical region protein 3
Alternative name(s):
Down syndrome critical region protein A
Gene namesi
Name:DSCR3
Synonyms:DCRA, DSCRA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:3044. DSCR3.

Subcellular locationi

GO - Cellular componenti

  • endosome Source: GO_Central
  • nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27496.

Polymorphism and mutation databases

BioMutaiDSCR3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 297297Down syndrome critical region protein 3PRO_0000073016Add
BLAST

Proteomic databases

EPDiO14972.
MaxQBiO14972.
PaxDbiO14972.
PeptideAtlasiO14972.
PRIDEiO14972.

PTM databases

iPTMnetiO14972.
PhosphoSiteiO14972.

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000157538.
CleanExiHS_DSCR3.
ExpressionAtlasiO14972. baseline and differential.
GenevisibleiO14972. HS.

Organism-specific databases

HPAiCAB016377.
HPA023288.

Interactioni

Protein-protein interaction databases

BioGridi115596. 16 interactions.
DIPiDIP-47317N.
IntActiO14972. 3 interactions.
MINTiMINT-8247532.
STRINGi9606.ENSP00000311399.

Structurei

3D structure databases

ProteinModelPortaliO14972.
SMRiO14972. Positions 15-279.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the VPS26 family.Curated

Phylogenomic databases

eggNOGiKOG2717. Eukaryota.
ENOG410XS9N. LUCA.
GeneTreeiENSGT00390000009324.
HOGENOMiHOG000294089.
HOVERGENiHBG051411.
InParanoidiO14972.
OMAiPLKLCRM.
OrthoDBiEOG091G0FCI.
PhylomeDBiO14972.
TreeFamiTF323199.

Family and domain databases

InterProiIPR014756. Ig_E-set.
IPR028934. Vps26-related.
[Graphical view]
PfamiPF03643. Vps26. 1 hit.
[Graphical view]
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14972-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGTALDIKIK RANKVYHAGE VLSGVVVISS KDSVQHQGVS LTMEGTVNLQ
60 70 80 90 100
LSAKSVGVFE AFYNSVKPIQ IINSTIEMVK PGKFPSGKTE IPFEFPLHLK
110 120 130 140 150
GNKVLYETYH GVFVNIQYTL RCDMKRSLLA KDLTKTCEFI VHSAPQKGKF
160 170 180 190 200
TPSPVDFTIT PETLQNVKER ALLPKFLLRG HLNSTNCVIT QPLTGELVVE
210 220 230 240 250
SSEAAIRSVE LQLVRVETCG CAEGYARDAT EIQNIQIADG DVCRGLSVPI
260 270 280 290
YMVFPRLFTC PTLETTNFKV EFEVNIVVLL HPDHLITENF PLKLCRI
Length:297
Mass (Da):33,010
Last modified:January 1, 1998 - v1
Checksum:i5CE40FEE9E6664D5
GO
Isoform 2 (identifier: O14972-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-144: Missing.

Note: No experimental confirmation available.
Show »
Length:270
Mass (Da):29,885
Checksum:i87AEF08867AB79A2
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei118 – 14427Missing in isoform 2. 1 PublicationVSP_056598Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87343 mRNA. Translation: BAA23225.1.
AK300024 mRNA. Translation: BAH13197.1.
AK312707 mRNA. Translation: BAG35585.1.
AK316460 mRNA. Translation: BAH14831.1.
AP001412 Genomic DNA. No translation available.
AP001432 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09714.1.
BC110655 mRNA. Translation: AAI10656.1.
CCDSiCCDS33553.1. [O14972-1]
PIRiJC5698.
RefSeqiNP_006043.1. NM_006052.1. [O14972-1]
XP_005260966.1. XM_005260909.4. [O14972-2]
UniGeneiHs.369488.

Genome annotation databases

EnsembliENST00000309117; ENSP00000311399; ENSG00000157538. [O14972-1]
ENST00000476950; ENSP00000419496; ENSG00000157538. [O14972-2]
GeneIDi10311.
KEGGihsa:10311.
UCSCiuc002ywf.2. human. [O14972-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D87343 mRNA. Translation: BAA23225.1.
AK300024 mRNA. Translation: BAH13197.1.
AK312707 mRNA. Translation: BAG35585.1.
AK316460 mRNA. Translation: BAH14831.1.
AP001412 Genomic DNA. No translation available.
AP001432 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09714.1.
BC110655 mRNA. Translation: AAI10656.1.
CCDSiCCDS33553.1. [O14972-1]
PIRiJC5698.
RefSeqiNP_006043.1. NM_006052.1. [O14972-1]
XP_005260966.1. XM_005260909.4. [O14972-2]
UniGeneiHs.369488.

3D structure databases

ProteinModelPortaliO14972.
SMRiO14972. Positions 15-279.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115596. 16 interactions.
DIPiDIP-47317N.
IntActiO14972. 3 interactions.
MINTiMINT-8247532.
STRINGi9606.ENSP00000311399.

PTM databases

iPTMnetiO14972.
PhosphoSiteiO14972.

Polymorphism and mutation databases

BioMutaiDSCR3.

Proteomic databases

EPDiO14972.
MaxQBiO14972.
PaxDbiO14972.
PeptideAtlasiO14972.
PRIDEiO14972.

Protocols and materials databases

DNASUi10311.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309117; ENSP00000311399; ENSG00000157538. [O14972-1]
ENST00000476950; ENSP00000419496; ENSG00000157538. [O14972-2]
GeneIDi10311.
KEGGihsa:10311.
UCSCiuc002ywf.2. human. [O14972-1]

Organism-specific databases

CTDi10311.
GeneCardsiDSCR3.
H-InvDBHIX0022605.
HGNCiHGNC:3044. DSCR3.
HPAiCAB016377.
HPA023288.
MIMi605298. gene.
neXtProtiNX_O14972.
PharmGKBiPA27496.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2717. Eukaryota.
ENOG410XS9N. LUCA.
GeneTreeiENSGT00390000009324.
HOGENOMiHOG000294089.
HOVERGENiHBG051411.
InParanoidiO14972.
OMAiPLKLCRM.
OrthoDBiEOG091G0FCI.
PhylomeDBiO14972.
TreeFamiTF323199.

Miscellaneous databases

ChiTaRSiDSCR3. human.
GenomeRNAii10311.
PROiO14972.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157538.
CleanExiHS_DSCR3.
ExpressionAtlasiO14972. baseline and differential.
GenevisibleiO14972. HS.

Family and domain databases

InterProiIPR014756. Ig_E-set.
IPR028934. Vps26-related.
[Graphical view]
PfamiPF03643. Vps26. 1 hit.
[Graphical view]
SUPFAMiSSF81296. SSF81296. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDSCR3_HUMAN
AccessioniPrimary (citable) accession number: O14972
Secondary accession number(s): B2R6T8
, B7Z6B1, D3DSH4, Q2TAY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 7, 2016
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.