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UFL1 - UFM1 specific ligase 1 Gene

Also Known as NLBP; RCAD; Maxer; KIAA0776

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23376

About UFL1

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:96,521,806-96,555,276 (from NCBI)

This gene has 2 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in thyroid (RPKM 19.4), prostate (RPKM 15.2) and 25 other tissues.

Summary

Enables UFM1 Ligase activity and protein kinase binding activity. Involved in several processes, including cellular protein modification process; regulation of signal transduction; and reticulophagy. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane; nucleus; and site of double-strand break. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

UFL1 Products (1)

mRNA	Protein	Name
NM_015323.5	NP_056138.1	E3 UFM1-protein ligase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables UFM1 ligase activity	IDA IDA: Inferred from direct assay	20018847	GOA
enables UFM1 ligase activity	IMP IMP: Inferred from mutant phenotype	37036982	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20018847	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	30886146	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in DNA damage checkpoint signaling	IDA IDA: Inferred from direct assay	30886146	GOA
involved in DNA damage response	IDA IDA: Inferred from direct assay	30783677	GOA
involved in negative regulation of IRE1-mediated unfolded protein response	IDA IDA: Inferred from direct assay	32160526	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	20164180	GOA
involved in negative regulation of T cell activation	IDA IDA: Inferred from direct assay	38377992	GOA
involved in negative regulation of T cell mediated immune response to tumor cell	IDA IDA: Inferred from direct assay	38377992	GOA
involved in negative regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	20164180	GOA
acts upstream of or within positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20531390	GOA
involved in positive regulation of proteolysis involved in protein catabolic process	IDA IDA: Inferred from direct assay	36543799	GOA
involved in positive regulation of reticulophagy	IDA IDA: Inferred from direct assay	36543799	GOA
involved in protein K69-linked ufmylation	IDA IDA: Inferred from direct assay	25219498	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	32807901	GOA
involved in protein ufmylation	IDA IDA: Inferred from direct assay	20018847	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	37036982	GOA
involved in regulation of intracellular estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	25219498	GOA
acts upstream of or within regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	20228063	GOA
acts upstream of or within regulation of protein localization	IMP IMP: Inferred from mutant phenotype	20531390	GOA
involved in rescue of stalled ribosome	IDA IDA: Inferred from direct assay	37595036	GOA
involved in rescue of stalled ribosome	IMP IMP: Inferred from mutant phenotype	37036982	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	IDA IDA: Inferred from direct assay	32160526	GOA
involved in reticulophagy	IDA IDA: Inferred from direct assay	32160526	GOA
involved in ribosome disassembly	IDA IDA: Inferred from direct assay	38383785	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	20164180	GOA
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	37795761	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20018847	GOA
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	36543799	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	20531390	GOA
is active in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	20164180	GOA
located in nucleus	IDA IDA: Inferred from direct assay	30886146	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	20531390	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	30886146	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

UFL1 Protein Structure

E3_UFM1_ligase

0
200
400
600
794 a.a.

Protein Preferred Names	Protein Names
E3 UFM1-protein ligase 1	E3 UFM1-protein transferase 1

UFL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	UFL1	O94874	UFC1	Homo sapiens	Q9Y3C8	Anti Tag CoIP	33961781
Intra	UFL1	O94874	UFC1	Homo sapiens	Q9Y3C8	Anti Tag CoIP	37595036
Intra	UFL1	O94874	UFC1	Homo sapiens	Q9Y3C8	ITC	37595036
Intra	UFL1	O94874	DDRGK1	Homo sapiens	Q96HY6	Anti Tag CoIP	37595036
Intra	UFL1	O94874	CDK5RAP3	Homo sapiens	Q96JB5	Y2H Array	32296183
Intra	UFL1	O94874	CDK5RAP3	Homo sapiens	Q96JB5	Anti Tag CoIP	37595036
Intra	UFL1	O94874	CDK5RAP3	Homo sapiens	Q96JB5	Y2H Prey Pooling	32296183
Intra	UFL1	O94874	CDK5RAP3	Homo sapiens	Q96JB5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
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
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Meier-Gorlin Syndrome 8	MGORS8
Deafness, Autosomal Dominant 70	DFNA70 Autosomal Dominant Nonsyndromic Deafness 70 Autosomal Dominant Deafness 70 Deafness, Autosomal Dominant, 70
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
Hairy Tongue	Overgrowth Of Filiform Papillae Tongue, Hairy
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
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

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 (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS19395	Ufl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-183257	ATI-1		/	Unkown
HY-RS15415	UFL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25887	Ufl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UFL1	MGD	MGI:1914740
Rattus norvegicus	UFL1	RGD	RGD:1309308
Bos taurus	UFL1	VGNC	VGNC:36646
Canis familiaris	UFL1	VGNC	VGNC:48115
Macaca mulatta	UFL1	VGNC	VGNC:79370
Felis catus	UFL1	VGNC	VGNC:66803
Others	UFL1	NCBI