UBA5 - ubiquitin like modifier activating enzyme 5 Gene

Also Known as DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79876

About UBA5

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:132,654,430-132,679,794 (from NCBI)

This gene has 15 transcripts (splice variants), 220 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.7) and 25 other tissues.

Summary

This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]

UBA5 Products (5)

mRNA	Protein	Name
NM_001320210.2	NP_001307139.1	ubiquitin-like modifier-activating enzyme 5 isoform 2
NM_001321238.2	NP_001308167.1	ubiquitin-like modifier-activating enzyme 5 isoform 3
NM_001321239.1	NP_001308168.1	ubiquitin-like modifier-activating enzyme 5 isoform 4
NM_024818.6	NP_079094.1	ubiquitin-like modifier-activating enzyme 5 isoform 1
NM_198329.4	NP_938143.1	ubiquitin-like modifier-activating enzyme 5 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables UFM1 activating enzyme activity	IDA IDA: Inferred from direct assay	15071506	GOA
enables UFM1 activating enzyme activity	IMP IMP: Inferred from mutant phenotype	27545681	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	27653677	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	27653677	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in neuromuscular process	IGI IGI: Inferred from genetic interaction	26872069	GOA
involved in protein K69-linked ufmylation	IDA IDA: Inferred from direct assay	25219498	GOA
involved in protein ufmylation	IDA IDA: Inferred from direct assay	15071506	GOA
acts upstream of or within protein ufmylation	IMP IMP: Inferred from mutant phenotype	23152784	GOA
involved in protein ufmylation	IMP IMP: Inferred from mutant phenotype	27545681	GOA
involved in regulation of intracellular estrogen receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	25219498	GOA
acts upstream of or within response to endoplasmic reticulum stress	IDA IDA: Inferred from direct assay	23152784	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	32160526	GOA
involved in reticulophagy	IMP IMP: Inferred from mutant phenotype	32160526	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	26872069	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	30990354	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBA5 Protein Structure

ThiF

0
100
200
300
404 a.a.

Protein Preferred Names	Protein Names
ubiquitin-like modifier-activating enzyme 5	UBA5, ubiquitin-activating enzyme E1 homolog

UBA5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UBA5	Q9GZZ9	UFM1	Homo sapiens	P61960	Anti Tag CoIP	20562859
Intra	UBA5	Q9GZZ9	UFM1	Homo sapiens	P61960	Anti Tag CoIP	28514442
Intra	UBA5	Q9GZZ9	UFM1	Homo sapiens	P61960	Anti Tag CoIP	33961781
Intra	UBA5	Q9GZZ9	UFM1	Homo sapiens	P61960	Anti Tag CoIP	26496610
Intra	UBA5	Q9GZZ9	UFM1	Homo sapiens	P61960	Anti Tag CoIP	35271311
Intra	UBA5	Q9GZZ9	UFM1	Homo sapiens	P61960	Anti Tag CoIP	26872069
Intra	UBA5	Q9GZZ9	MAP1LC3C	Homo sapiens	Q9BXW4	Pull Down	20562859
Intra	UBA5	Q9GZZ9	MAP1LC3B	Homo sapiens	Q9GZQ8	Pull Down	20562859
Intra	UBA5	Q9GZZ9	GABARAP	Homo sapiens	O95166	Pull Down	20562859
Intra	UBA5	Q9GZZ9	GABARAPL2	Homo sapiens	P60520	Anti Tag CoIP	28514442
Intra	UBA5	Q9GZZ9	GABARAPL2	Homo sapiens	P60520	Y2H Array	25416956
Intra	UBA5	Q9GZZ9	GABARAPL2	Homo sapiens	P60520	Y2H Prey Pooling	25416956
Intra	UBA5	Q9GZZ9	GABARAPL2	Homo sapiens	P60520	Anti Tag CoIP	20562859
Intra	UBA5	Q9GZZ9	GABARAPL2	Homo sapiens	P60520	Anti Tag CoIP	33961781
Intra	UBA5	Q9GZZ9	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859
Intra	UBA5	Q9GZZ9	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UBA5 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71395	UBA5 Protein, Human (His)	Q9GZZ9-1 (M1-M404)	≥ 90%, as determined by reducing SDS-PAGE.

UBA5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811091	UBA5 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Developmental And Epileptic Encephalopathy 44	DEE44 Epileptic Encephalopathy, Early Infantile, 44 Eiee44 Developmental And Epileptic Encephalopathy, 44 Early Infantile Epileptic Encephalopathy 44 Encephalopathy, Epileptic, Early Infantile, Type 44
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Ohtahara Syndrome
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Spinocerebellar Ataxia, Autosomal Recessive 21	SCAR21 Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome Calfan Autosomal Recessive Spinocerebellar Ataxia 21 Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy Autosomal Recessive Spinocerebellar Ataxia Type 21 Spinocerebellar Ataxia, Autosomal Recessive, 21 Calfan Syndrome
Beukes Hip Dysplasia	Hip Dysplasia, Beukes Type Beukes Familial Hip Dysplasia BFHD Cilliers-Beighton Syndrome Osteoarthropathy, Premature Degenerative, Of Hip Premature Degenerative Osteoarthropathy Of The Hip BHD Beukes Type Hip Dysplasia Hip Dysplasia Beukes Type Premature Degenerative Osteoarthropathy Dysplasia, Hip, Beukes Type
Meier-Gorlin Syndrome 8	MGORS8
Deafness, Autosomal Dominant 70	DFNA70 Autosomal Dominant Nonsyndromic Deafness 70 Autosomal Dominant Deafness 70 Deafness, Autosomal Dominant, 70
Peho Syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy Infantile Cerebellooptic Atrophy PEHO Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy Progressive Encephalopathy-Optic Atrophy Syndrome
Epilepsy, Idiopathic Generalized 14	EIG14 Epilepsy, Idiopathic Generalized, Susceptibility To, 14 Idiopathic Generalized Epilepsy 14 {Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Renal Cysts And Diabetes Syndrome	RCAD Mody5 Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes Cakut With Diabetes Maturity-Onset Diabetes Of The Young Type 5 Tubulointerstitial Kidney Disease, Autosomal Dominant, 3 Adtkd3 Atypical Familial Juvenile Hyperuricemic Nephropathy Atypical Fjhn Familial Hypoplastic Glomerulocystic Kidney Maturity-Onset Diabetes Of The Young, Type 5 Hyperuricemic Nephropathy, Familial Juvenile, Atypical Fjhn, Atypical Glomerulocystic Kidney Disease, Hypoplastic Type Glomerulocystic Kidney, Familial Hypoplastic Hypoplastic Type Glomerulocystic Kidney Disease Glomerulocystic Kidney Disease Hypoplastic Type Renal-Diabetes Mody5 Syndrome
Nephronophthisis 3	NPHP3 Nph3 Adolescent Nephronophthisis Nephronophthisis, Type 3
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101836	DKM 2-93	Inhibitor	98.85%	Unkown
HY-148266	UBA5-IN-1	Inhibitor	98.0%	Unkown
HY-178458	UBA5-IN-2	Inhibitor	/	Unkown
HY-RS15322	UBA5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18051	Uba5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24525	Uba5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	UBA5	VGNC	VGNC:79382
Rattus norvegicus	UBA5	RGD	RGD:1311702
Canis familiaris	UBA5	VGNC	VGNC:48039
Felis catus	UBA5	VGNC	VGNC:66749
Bos taurus	UBA5	VGNC	VGNC:36564
Mus musculus	UBA5	MGD	MGI:1913913
Others	UBA5	NCBI