UBR5 ubiquitin protein ligase E3 component n-recognin 5 [Homo sapiens] - Gene

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Summary

Official Symbol: UBR5provided by HGNC
Official Full Name: ubiquitin protein ligase E3 component n-recognin 5provided by HGNC
Primary source: HGNC:16806
See related: Ensembl:ENSG00000104517; HPRD:06436; MIM:608413; Vega:OTTHUMG00000164755
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DD5; EDD; HYD; EDD1; FLJ11310; KIAA0896; MGC57263
Summary: This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 8q22

Sequence :: Chromosome: 8; NC_000008.10 (103264501..103424917, complement)

See UBR5 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

EDD1 suppresses death-receptor expression, and its expression is elevated in breast, pancreas, and lung cancer cell lines resistant to death receptor-mediated apoptosis.
Title: A whole-genome RNAi screen identifies an 8q22 gene cluster that inhibits death receptor-mediated apoptosis.
through binding to p53, EDD actively inhibits p53 phosphorylation by ATM and plays a role in ensuring smooth G(1)/S progression.
Title: EDD inhibits ATM-mediated phosphorylation of p53.
EDD ubiquitinates beta-catenin through Lys29- or Lys11-linked ubiquitin chains, leading to enhanced stability of beta-catenin.
Title: The EDD E3 ubiquitin ligase ubiquitinates and up-regulates beta-catenin.
The authors show that human EDD can interact independently with both human papillomavirus type 18 E6 and human E6AP.
Title: Regulation of the human papillomavirus type 18 E6/E6AP ubiquitin ligase complex by the HECT domain-containing protein EDD.
identify UBR5 as a novel E3 ligase that regulates transcription and define an additional function of TFIIS in the regulation of CDK9.
Title: Transcription factor IIS cooperates with the E3 ligase UBR5 to ubiquitinate the CDK9 subunit of the positive transcription elongation factor B.
Data show that in addition to PP2Ac, alpha4 interacts with EDD and PABP, suggesting its involvement in multiple steps in the mTOR pathway that leads to translation initiation and cell-cycle progression.
Title: alpha4 phosphoprotein interacts with EDD E3 ubiquitin ligase and poly(A)-binding protein.
study confirmed the presence of UBR5 mutation in exon 45 in high microsatellite instability cacarcinomas; could not identify exon 42 mutations in colorectal cancers and exon 51 mutations in breast cancers
Title: Mutational analysis of UBR5 gene encoding an E3 ubiquitin ligase in common human cancers.
These results identify EDD as a new independent prognostic marker for outcome in serous ovarian cancer
Title: The E3 ubiquitin ligase EDD is an adverse prognostic factor for serous epithelial ovarian cancer and modulates cisplatin resistance in vitro.
EDD plays the role in the maintenance of genomic stability, emphasising the potential importance of dysregulated EDD expression and/or function in the evolution of cancer.
Title: The E3 ubiquitin ligase EDD regulates S-phase and G(2)/M DNA damage checkpoints.
ubiquitin-protein ligase EDD interacts with importin alpha 5 through consensus basic nuclear localization signals and is localized in cell nuclei. EDD also binds progesterone receptor (PR) and potentiates progestin-mediated gene transactivation.
Title: EDD, the human hyperplastic discs protein, has a role in progesterone receptor coactivation and potential involvement in DNA damage response.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O95071	Q99828	CIB1	HPRD	PubMed
O95071	P52294	KPNA1	HPRD	PubMed
O95071	P52292	KPNA2	HPRD	PubMed
O95071	Q14974	KPNB1	HPRD	PubMed
O95071	P28482	MAPK1	HPRD	PubMed
O95071	Q9H074	PAIP1	HPRD	PubMed
O95071	Q9BPZ3	PAIP2	HPRD	PubMed
O95071	P06401	PGR	HPRD	PubMed
O95071	Q15796	SMAD2	HPRD	PubMed
O95071	Q92547	TOPBP1	HPRD	PubMed
BioGRID:119501	BioGRID:107164	BUB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:198404	Bub1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:198405	Bub1b	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:107459	CDK9	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Co-localization
BioGRID:119501	BioGRID:107481	CEBPD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:115774	CIB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:119501	BioGRID:228987	Cep78	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:108009	DDB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:119501	BioGRID:114023	DYRK2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:119501	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:116806	FAF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:109187	GSK3B	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:119501	BioGRID:109216	GTF2E2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:116285	KATNA1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:119501	BioGRID:110034	KPNA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:119501	BioGRID:114879	MAGED1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:111580	MAPK1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:119501	BioGRID:111581	MAPK3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:119501	BioGRID:115710	MCRS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:115761	NCOA2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:119404	PAIP2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:119501	BioGRID:111136	PCK1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:119501	BioGRID:111260	PGR	BioGRID	PubMed	Reconstituted Complex
BioGRID:119501	BioGRID:111391	PMS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:119501	BioGRID:111404	PMS2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:114797	RECQL5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:112211	SATB1	BioGRID	PubMed	Two-hybrid
BioGRID:119501	BioGRID:116597	SNW1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:112779	TCEA1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:119501	BioGRID:116256	TOPBP1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Two-hybrid
BioGRID:119501	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:119501	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:119501	BioGRID:119239	UBXN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:117507	UBXN7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:1678002	UL27	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:117382	USP49	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:214255	Ubr5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119501	BioGRID:115079	VPRBP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:119501	BioGRID:121649	WDR48	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
acid-amino acid ligase activity	IEA Inferred from Electronic Annotation more info
ligase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info
ubiquitin binding	IEA Inferred from Electronic Annotation more info
ubiquitin-protein ligase activity	TAS Traceable Author Statement more info	PubMed
ubiquitin-ubiquitin ligase activity	IDA Inferred from Direct Assay more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell proliferation	TAS Traceable Author Statement more info	PubMed
positive regulation of canonical Wnt receptor signaling pathway	IMP Inferred from Mutant Phenotype more info
positive regulation of catenin import into nucleus	IMP Inferred from Mutant Phenotype more info
positive regulation of protein import into nucleus, translocation	IMP Inferred from Mutant Phenotype more info
progesterone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
protein modification process	IEA Inferred from Electronic Annotation more info
protein polyubiquitination	IDA Inferred from Direct Assay more info
protein ubiquitination	TAS Traceable Author Statement more info	PubMed
protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
response to DNA damage stimulus	IDA Inferred from Direct Assay more info	PubMed
ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
intracellular	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info
soluble fraction	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: E3 ubiquitin-protein ligase UBR5

Names: E3 ubiquitin-protein ligase UBR5; hHYD; ubiquitin-protein ligase; progestin induced protein; progestin-induced protein; hyperplastic discs protein homolog; E3 identified by differential display; E3 ubiquitin-protein ligase, HECT domain-containing 1; E3 ubiquitin protein ligase, HECT domain containing, 1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015902.5 → NP_056986.2 E3 ubiquitin-protein ligase UBR5

Status: REVIEWED

Source sequence(s)

AB020703, AP002907, BX489192

Consensus CDS

CCDS34933.1

UniProtKB/Swiss-Prot

O95071

Related

ENSP00000429084, OTTHUMP00000227389, ENST00000520539, OTTHUMT00000380075

Conserved Domains (5) summary

pfam11547
Location:180 – 212
Blast Score: 154

E3_UbLigase_EDD; E3 ubiquitin ligase EDD

smart00396
Location:1177 – 1244
Blast Score: 237

ZnF_UBR1; Putative zinc finger in N-recognin, a recognition component of the N-end rule pathway

pfam02207
Location:1177 – 1238
Blast Score: 176

zf-UBR; Putative zinc finger in N-recognin (UBR box)

cl00077
Location:2503 – 2775
Blast Score: 576

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

cl02642
Location:2389 – 2452
Blast Score: 190

PABP; Poly-adenylate binding protein, unique domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

103264501..103424917, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

98463202..98623328, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP002907.2 (74421..98145)	None
genomic	AP002981.2 (11107..146803)	None
genomic	CH471060.1	EAW91843.1
		EAW91844.1
		EAW91845.1
		EAW91846.1
mRNA	AB020703.3	BAA74919.3
mRNA	AF006010.2	AAD01259.2
mRNA	AK002172.1	BAG51024.1
mRNA	AK124995.1	None
mRNA	AL833555.1	None
mRNA	BC037843.1	None
mRNA	BC044598.1	AAH44598.1
mRNA	BC053948.1	None
mRNA	BC137234.1	AAI37235.1
mRNA	BC151231.1	None
mRNA	BX489192.1	None
mRNA	U95000.1	AAF88143.1