Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23376
Gene name	UFM1 specific ligase 1
Gene symbol	UFL1
Synonyms (NCBI Gene)	KIAA0776MaxerNLBPRCAD
Chromosome	6
Chromosome location	6q16.1

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001543	hsa-miR-155-5p	pSILAC	18668040
MIRT001543	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT717505	hsa-miR-6730-3p	HITS-CLIP	19536157
MIRT717504	hsa-miR-3660	HITS-CLIP	19536157
MIRT717503	hsa-miR-4526	HITS-CLIP	19536157
MIRT717502	hsa-miR-6719-3p	HITS-CLIP	19536157
MIRT717501	hsa-miR-5696	HITS-CLIP	19536157
MIRT717500	hsa-miR-579-3p	HITS-CLIP	19536157
MIRT717499	hsa-miR-664b-3p	HITS-CLIP	19536157
MIRT717498	hsa-miR-4256	HITS-CLIP	19536157
MIRT717497	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT717496	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT445931	hsa-miR-495-5p	PAR-CLIP	22100165
MIRT445930	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT445929	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT445928	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445927	hsa-miR-744-3p	PAR-CLIP	22100165
MIRT717505	hsa-miR-6730-3p	HITS-CLIP	19536157
MIRT717504	hsa-miR-3660	HITS-CLIP	19536157
MIRT717503	hsa-miR-4526	HITS-CLIP	19536157
MIRT717502	hsa-miR-6719-3p	HITS-CLIP	19536157
MIRT717501	hsa-miR-5696	HITS-CLIP	19536157
MIRT717500	hsa-miR-579-3p	HITS-CLIP	19536157
MIRT717499	hsa-miR-664b-3p	HITS-CLIP	19536157
MIRT717498	hsa-miR-4256	HITS-CLIP	19536157
MIRT717497	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT717496	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT445931	hsa-miR-495-5p	PAR-CLIP	22100165
MIRT445930	hsa-miR-382-5p	PAR-CLIP	22100165
MIRT445929	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT445928	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445927	hsa-miR-744-3p	PAR-CLIP	22100165

Show/Hide all (83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IDA	32537488
GO:0000077	Process	DNA damage checkpoint signaling	IDA	30886146
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	10802669
GO:0000729	Process	DNA double-strand break processing	IDA	10802669, 15064416, 15790808, 26240375
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0002841	Process	Negative regulation of T cell mediated immune response to tumor cell	IDA	38377992
GO:0002842	Process	Positive regulation of T cell mediated immune response to tumor cell	IDA	30487606, 33109719
GO:0005515	Function	Protein binding	IPI	20018847, 20164180, 20228063, 25219498, 30886146, 32160526, 32296183, 33961781, 37595036
GO:0005634	Component	Nucleus	IDA	30886146
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	20164180, 30886146
GO:0005737	Component	Cytoplasm	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	20164180
GO:0005783	Component	Endoplasmic reticulum	IDA	37795761
GO:0005783	Component	Endoplasmic reticulum	IDA	20018847, 20531390
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36543799, 38383785, 38383789
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20531390, 32160526
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	30783677, 32807901
GO:0006974	Process	DNA damage response	IEA
GO:0008015	Process	Blood circulation	TAS	1400360
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20531390
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0016020	Component	Membrane	HDA	16210410
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	30886146
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IDA	29681526
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	30487606
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	20164180
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	20164180, 20228063
GO:0032434	Process	Regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	20228063
GO:0032790	Process	Ribosome disassembly	IDA	36517592
GO:0032790	Process	Ribosome disassembly	IDA	38383785, 38383789
GO:0032880	Process	Regulation of protein localization	IMP	20531390
GO:0032991	Component	Protein-containing complex	IDA	20531390
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IDA	25219498
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	23152784
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	32160526
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0035861	Component	Site of double-strand break	IDA	30886146
GO:0043005	Component	Neuron projection	IEA
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	29681526, 33109719
GO:0044546	Process	NLRP3 inflammasome complex assembly	IDA	35114687
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050821	Process	Protein stabilization	IDA	32807901, 38377992
GO:0050868	Process	Negative regulation of T cell activation	IDA	38377992
GO:0050868	Process	Negative regulation of T cell activation	IEA
GO:0050870	Process	Positive regulation of T cell activation	IDA	30487606, 33109719
GO:0060218	Process	Hematopoietic stem cell differentiation	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	ISS
GO:0060252	Process	Positive regulation of glial cell proliferation	IEA
GO:0061666	Function	UFM1 ligase activity	IDA	20018847, 30626644, 30783677, 30886146, 32160526, 32807901, 35753586, 36121123, 36543799, 36893266, 37595036, 37795761, 38377992, 38383785, 38383789
GO:0061666	Function	UFM1 ligase activity	IEA
GO:0061666	Function	UFM1 ligase activity	IMP	37036982
GO:0061709	Process	Reticulophagy	IBA
GO:0061709	Process	Reticulophagy	IDA	32160526
GO:0071568	Function	UFM1 transferase activity	IBA
GO:0071569	Process	Protein ufmylation	IDA	20018847, 30626644, 30886146, 32160526, 32807901, 35753586, 36121123, 36543799, 37595036, 37795761, 38383785, 38383789
GO:0071569	Process	Protein ufmylation	IEA
GO:0071569	Process	Protein ufmylation	IMP	23152784
GO:0071569	Process	Protein ufmylation	IMP	37036982
GO:0072344	Process	Rescue of stalled ribosome	IDA	37595036, 38383785, 38383789
GO:0072344	Process	Rescue of stalled ribosome	IMP	37036982
GO:0140374	Process	Antiviral innate immune response	IDA	27992402
GO:0140501	Process	Positive regulation of reticulophagy	IDA	36543799
GO:1901797	Process	Negative regulation of signal transduction by p53 class mediator	IDA	29681526
GO:1902065	Process	Response to L-glutamate	IEA
GO:1903052	Process	Positive regulation of proteolysis involved in protein catabolic process	IDA	36543799
GO:1903052	Process	Positive regulation of proteolysis involved in protein catabolic process	IDA	36543799
GO:1903895	Process	Negative regulation of IRE1-mediated unfolded protein response	IDA	32160526
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

MIM	HGNC	e!Ensembl
613372	23039	ENSG00000014123

O94874

Protein name

E3 UFM1-protein ligase 1 (EC 2.3.2.-) (E3 UFM1-protein transferase 1) (Multiple alpha-helix protein located at ER) (Novel LZAP-binding protein) (Regulator of C53/LZAP and DDRGK1)

Protein function

E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to lysine residues on target proteins, and which plays a key role in various processes, such as ribosome recycling, response to DNA damage, i

PDB

8B9X , 8C0D , 8OHD , 8OJ0 , 8OJ5 , 8OJ8 , 8QFC , 8QFD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09743	E3_UFM1_ligase	7 → 284	E3 UFM1-protein ligase 1	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with a high expression in liver (at protein level) (PubMed:20018847). Low expression in several invasive hepatocellular carcinomas, such Hep-G2, Hep 3B2.1-7, HLE and PLC (PubMed:20018847). {ECO:0000269|PubMed:20

Sequence

MADAWEEIRRLAADFQRAQFAEATQRLSERNCIEIVNKLIAQKQLEVVHTLDGKEYITPA
QISKEMRDELHVRGGRVNIVDLQQVINVDLIHIENRIGDIIKSEKHVQLVLGQLIDENYL
DRLAEEVNDKLQESGQVTISELCKTYDLPGNFLTQALTQRLGRIISGHIDLDNRGVIFTE
AFVARHKARIRGLFSAITRPTAVNSLISKYGFQEQLLYSVLEELVNSGRLRGTVVGGRQD
KAVFVPDIYSRTQSTWVDSFFRQNGYLEFDALSRLGIPDAVSYIKKRYKTTQLLFLKAAC
VGQGLVDQVEASVEEAISSGTWVDIAPLLPTSLSVEDAAILLQQVMRAFSKQASTVVFSD
TVVVSEKFINDCTELFRELMHQKAEKEMKNNPVHLITEEDLKQISTLESVSTSKKDKKDE
RRRKATEGSGSMRGGGGGNAREYKIKKVKKKGRKDDDSDDESQSSHTGKKKPEISFMFQD
EIEDFLRKHIQDAPEEFISELAEYLIKPLNKTYLEVVRSVFMSSTTSASGTGRKRTIKDL
QEEVSNLYNNIRLFEKGMKFFADDTQAALTKHLLKSVCTDITNLIFNFLASDLMMAVDDP
AAITSEIRKKILSKLSEETKVALTKLHNSLNEKSIEDFISCLDSAAEACDIMVKRGDKKR
ERQILFQHRQALAEQLKVTEDPALILHLTSVLLFQFSTHSMLHAPGRCVPQIIAFLNSKI
PEDQHALLVKYQGLVVKQLVSQSKKTGQGDYPLNNELDKEQEDVASTTRKELQELSSSIK
DLVLKSRKSSVTEE

Sequence length

794

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	23839039	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	23839039	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	35680375	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	23839039	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cluster Headache	Associate	34180076	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	37592229	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Associate	26660531, 37592229	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Associate	26660531	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	20164180, 23839039	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	35610622	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	35610622	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Inhibit	35610622	★★★★★ ★☆☆☆☆ Found in Text Mining only

UFL1 (UFM1 specific ligase 1)