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FLASH GENE

Symbol

UBA1

contributors: mct/npt/shn - updated : 21-03-2018

HGNC name	ubiquitin-like modifier activating enzyme 1
HGNC id	12469

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SMAX X-linked infantile spinal-muscular atrophy
Location	Xp11.3      Physical location : 47.050.198 - 47.074.526
Synonym name	complementing, temperature sensitivity A1S9 in somatic cell hybrids
	complementing, temperature sensitivity, tsBN75m mutation, may be same as GDX
	ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)
	A1S9T and BN75 temperature sensitivity complementing
	ubiquitin-activating enzyme E1 homolog (yeast)
	ubiquitin-like modifier activating enzyme 1
	POC20 centriolar protein homolog
	UBA1, ubiquitin-activating enzyme E1 homolog A
Synonym symbol(s)	CTD-2522E6.1, A1ST, GXP1, UBE1X, A1S9, A1S9T, MGC4781, UBA1A, UBE1, AMCX1, SMAX2, POC20
EC.number	6.3.2.19

DNA

TYPE	functioning gene
SPECIAL FEATURE	escaping inactivation
STRUCTURE	21.33 kb     26 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - DXS1003 - GATA160B08 - UBA1 - DXS1208 - DXS1039 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003334 26 splicing 3616 NP_003325 - 1058 - - NM_153280 26 splicing 3544 NP_695012 - 1058 - -

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 Digestive liver       lowly Homo sapiens Reproductive female system placenta     moderately Homo sapiens Respiratory lung       highly Homo sapiens

cell lineage
cell lines	HeLa, BeWo, HepG2, CHO (
fluid/secretion

at STAGE

cell cycle

cell cycle, S

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C-terminal ubiquitin-fold domain

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to Uba1, Mus musculus
	ortholog to Uba1, Rattus norvegicus
	ortholog to uba1, Danio rerio
	ortholog to UBA1, Pan troglodytes

Homologene

FAMILY

ubiquitin-activating E1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
text	reduced UBA1 localizes mainly in the cytosol, but is translocated from the cytosol to the membrane under conditions of oxidative stress

basic FUNCTION	ubiquitin-activating enzyme E1, escaping inactivation in human involved in cell cycle progression through S phase
	catalyzing the first step in ubiquitin conjugation to mark cellular proteins for degradation
	required for charging the cell-cycle E2s Cdc34A and Cdc34B (
	major function of UBA1 is to promote degradation of damaged proteins by 26S proteasome by tagging the target proteins with an Ub moiety
	ubiquitination levels are strongly related to UBA1 activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a complex with UBE2E2, EBE2D1, UBE2G1, CBL, UBE3

INTERACTION

DNA

RNA

small molecule

protein	Hsp105alpha (
	interactions between FUS and proteins involved in neurodegenerative diseases and/or ubiquitin proteasome pathway, such as VCP, SFPQ, UBA1, and 26S proteosome non-ATPase regulatory subunit 12 (PSMD12)
	USP5 and UBA1, are interacting partners of UBTD2
	UBA1 and UBD form a stable non-reducible conjugate under overexpression as well as under endogenous conditions after induction of endogenous UBD expression with proinflammatory cytokines
	does not act as a second E1 activating enzyme for UBD but UBDylation of UBA1 leads to its proteasomal degradation, implying a putative regulatory role of UBD in the ubiquitin conjugation pathway

cell & other

REGULATION

Phosphorylated by

protein kinase Cdc2 (

Other

UBA1 Cys-278 is sensitive to oxidation and can affect UB charging through a change in its proximity to UB

ASSOCIATED DISORDERS

corresponding disease(s)

SMAX

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS