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FLASH GENE

Symbol

UBA5

contributors: mct - updated : 13-10-201

HGNC name	ubiquitin-like modifier activating enzyme 5
HGNC id	23230

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	25.34 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198329 12 splicing 2866 NP_938143 - 348 - 2010 20368332 NM_024818 12 splicing 3842 NP_079094 44 404 - 2010 20368332 contains an additional segment in the 5' region and uses a downstream start codon NM_001321239 10 - 3706 NP_001308168 - 292 - 2010 20368332 NM_001320210 12 - 2992 NP_001307139 - 348 - 2010 20368332 NM_001321238 10 - 2856 NP_001308167 - 314 - 2010 20368332

EXPRESSION

Type

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 intestine large intestine colon     Reproductive male system testis       Respiratory lung

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an adenylation domain
	AAs 364-404 were demonstrated to be necessary for the transthiolation of UFM1 to UFC1
	UBA5 AA 381-404 was identified to be the minimal region for UFC1 recognition
	a C-terminal region

HOMOLOGY

interspecies	homolog to murine Ube1dc1
	homolog to rattus LOC300968

Homologene

FAMILY	ubiquitin-activating E1 family
	UBA5 subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	may have an oxidoreductase activity and be involved in L-serine biosynthesis
	activate an ubiquitin-like protein, ubiquitin-fold modifier 1 (UFM1), by forming a high-energy thioester bond
	essential role, as a specific activating enzyme for the ubiquitin-like modifier, UFM1, in erythroid development
	dispensable for the production of erythropoietin, but its genetic loss led to impaired development of megakaryocyte and erythroid progenitors from common myeloid progenitors
	smallest ubiquitin-like molecule-activating enzyme
	E1-activating enzyme of ubiquitin-fold modifier 1 (UFM1), a recently identified ubiquitin-like protein
	role of UBA5 dimerization in UFM1 activation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

UFM1-UBA5-UFC1 ubiquination pathway

a component

fusion protein between UBA5 381-404 and UFC1 exists as a homodimer in solution

INTERACTION

DNA

RNA

small molecule

protein	activate another ubiquitin-like protein, SUMO2, besides UFM1 (greatly activated SUMO2 in the nucleus or transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in the cytoplasm)
	UFM1 covalently attach with cellular protein(s) via a specific E1-activating enzyme (UBA5) and an E2-conjugating enzyme (UFC1)
	UFM1 is activated by the E1 enzyme UBA5, and this pathway is proposed to play an important role in the endoplasmic reticulum (ER) stress response
	Ufmylation is initiated by UBA5, which activates and transfers UFM1 to ubiquitin-fold modifier-conjugating enzyme 1 (UFC1)
	UBA5 binds to UFM1 via a trans-binding mechanism in which UFM1 interacts with distinct sites in both subunits of the UBA5 dimer

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR24 , EIEE44

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice lacking Uba5 exhibited severe anaemia, followed by death in utero
	Uba5 silencing in zebrafish decreased motility while inducing abnormal movements suggestive of seizures