UBA5 - ubiquitin like modifier activating enzyme 5 Gene

Homo sapiens

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

Gene ID: 79876 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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)	≥95%

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101836	DKM 2-93	Inhibitor	98.76%	Unkown
HY-148266	UBA5-IN-1	Inhibitor	≥98.0%	Unkown
HY-RS15322	UBA5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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