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FLASH GENE

Symbol

UBR1

contributors: mct/npt - updated : 16-02-2009

HGNC name	ubiquitin protein ligase E3 component n-recognin 1
HGNC id	16808

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	JBS Johanson-Blizzard syndrome
Location	15q15.2      Physical location : 43.235.102 - 43.398.286
Synonym name	N-recognin-1
	ubiquitin ligase E3 alpha-I
Synonym symbol(s)	JBS, MGC142065, MGC142067
EC.number	6.3.2.-

DNA

TYPE	functioning gene
STRUCTURE	163.19 kb     47 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D15S760 - D15S748 - UBR1 - D15S759 - D15S508 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_174916 47 - 7758 200 1749 - Beausoleil (2004)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system prostate     highly   male system testis     predominantly Respiratory respiratory tract larynx     highly

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES		Amphiphilic
STRUCTURE

motifs/domains	N-recognin called E3-alpha domain
	one UBR1-type zinc finger, 70-AAs UBR box functioning as a common structural element essential for binding to all known destabilizing N-terminal residues (Tasaki 2009)
	a RING-H2 domain
	a BRR (basic residues rich) region

HOMOLOGY

interspecies	ortholog to murine Ubr1
	homolog to chimpanzee LOC453369

Homologene

FAMILY

UBR1 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	ubiquitin ligase binding to proteins bearing amino-terminal residues that are destabilizing according to the n-end rule, but does not bind to otherwise identical proteins bearing stabilizing amino-terminal residues
	having a critical role for the regulation of FOS (Sasaki 2006)
	also participates in H2A ubiquitination during meiosis (An2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

complexing with RECQL4 in both nucleus and cytoplasm

cell & other

REGULATION

induced by

STAT3 (Sasaki 2006)

ASSOCIATED DISORDERS

corresponding disease(s)

JBS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS