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FLASH GENE

Symbol

UFD1

contributors: mct/npt - updated : 29-06-2020

HGNC name	ubiquitin recognition factor in ER associated degradation 1
HGNC id	12520

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL22Q11 chromosome 22q11.2 microdeletion syndrome
Location	22q11.21      Physical location : -
Synonym name	ubiquitin fusion degradation 1-like
	UB fusion protein 1
	ubiquitin fusion degradation protein 1 homolog
Synonym symbol(s)	UFD1L

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
text	head to head with CDC45L
STRUCTURE	29.28 kb     12 Exon(s)

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	bidirectional transcriptional control region between UFD1L and CDC45L

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - UFD1L - HIRA - DVL1L1 - qter
Authors	Pizzuti (97)

RNA

TRANSCRIPTS	type	messenger

text	with multiple protein isoforms (Novelli)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005659 12 - 1791 NP_005650 34.4 307 - 2018 29743725 NM_001035247 12 - 1501 NP_001030324 - 266 - 2018 29743725 NM_001362910 11 - 2049 NP_001349839 - 302 - 2018 29743725

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 Cardiovascular heart       highly Endocrine pancreas       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	liver, kidney, embryonic brain intermediate zone

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

HOMOLOGY

interspecies

homolog to yeast ubiquitin fusion-degradation protein-1

Homologene

FAMILY

UFD1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in controlling neural crest development
	plays a critical role in ER-associated degradation (ERAD) together with NPLOC4 and VCP
	having a function in the ubiquitination reaction during ERAD, and playing a critical role in cholesterol metabolism
	enhances the E3 activity of AMFR, accelerates the ubiquitination and degradation of reductase, and eventually promotes receptor-mediated uptake of low-density lipoprotein (Cao 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

the VCP-UFD1L-NPLOC4 complex recognizes polyubiquitin chains and transfers the ubiquitinated proteins to the proteasome

INTERACTION

DNA

RNA

small molecule

protein	NPLOC4
	directly interacts with AMFR and functions as a cofactor (enhances the E3 activity of AMFR, accelerates the ubiquitination and degradation of reductase, and eventually promotes receptor-mediated uptake of low-density lipoprotein)
	UBXN7 may have a cooperative effect on VCP interaction with UFD1L

cell & other

REGULATION

activated by

HAND2

ASSOCIATED DISORDERS

corresponding disease(s)

DEL22Q11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in DiGeorge/velocardiofacial syndrome constitutional     --low   in Bicuspid aortic valve (BAV) tumoral     --over   in adrenocortical carcinomas

Susceptibility

to schizophrenia in Chinese

Variant & Polymorphism

Candidate gene	del22q11 (DEL22Q11)
Marker
Therapy target

ANIMAL & CELL MODELS