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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7318
Gene name	Ubiquitin like modifier activating enzyme 7
Gene symbol	UBA7
Synonyms (NCBI Gene)	D8UBA1BUBE1LUBE2UBE7
Chromosome	3
Chromosome location	3p21.31
Summary	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju

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miRTarBase ID	miRNA	Experiments	Reference
MIRT732231	hsa-miR-455-5p	Luciferase reporter assayqRT-PCRWestern blot	27235675
MIRT732231	hsa-miR-455-5p	Luciferase reporter assayqRT-PCRWestern blot	27235675
MIRT1466655	hsa-miR-4265	CLIP-seq
MIRT1466656	hsa-miR-4296	CLIP-seq
MIRT1466657	hsa-miR-4318	CLIP-seq
MIRT1466658	hsa-miR-4322	CLIP-seq
MIRT1466659	hsa-miR-4417	CLIP-seq
MIRT1466660	hsa-miR-4461	CLIP-seq
MIRT1466661	hsa-miR-4658	CLIP-seq
MIRT1466662	hsa-miR-4693-5p	CLIP-seq
MIRT1466663	hsa-miR-4729	CLIP-seq
MIRT1466664	hsa-miR-4758-5p	CLIP-seq
MIRT1466665	hsa-miR-515-3p	CLIP-seq
MIRT1466666	hsa-miR-519e	CLIP-seq
MIRT1466667	hsa-miR-892a	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
PML	Repression	11891284

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	18583345, 19073728
GO:0005515	Function	Protein binding	IPI	16189514, 17597759, 25416956, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29743376
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006974	Process	DNA damage response	IBA
GO:0008641	Function	Ubiquitin-like modifier activating enzyme activity	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0019782	Function	ISG15 activating enzyme activity	IBA
GO:0019782	Function	ISG15 activating enzyme activity	IDA	16428300
GO:0019782	Function	ISG15 activating enzyme activity	IEA
GO:0019941	Process	Modification-dependent protein catabolic process	IEA
GO:0032020	Process	ISG15-protein conjugation	IBA
GO:0032020	Process	ISG15-protein conjugation	IDA	15131269, 16407192
GO:0032020	Process	ISG15-protein conjugation	IDA	16428300
GO:0032020	Process	ISG15-protein conjugation	IEA
GO:0032020	Process	ISG15-protein conjugation	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IDA	28724761
GO:0045087	Process	Innate immune response	IDA	28724761

MIM	HGNC	e!Ensembl
191325	12471	ENSG00000182179

P41226

Protein name

Ubiquitin-like modifier-activating enzyme 7 (Ubiquitin-activating enzyme 7) (EC 6.2.1.-) (D8) (Ubiquitin-activating enzyme E1 homolog)

Protein function

E1-activating enzyme that catalyzes the covalent conjugation of the ubiquitin-like protein product of ISG15 to additional interferon stimulated proteins (ISGs) as well as other cellular proteins such as P53 in a process termed protein ISGylation

PDB

8OIF , 8SE9 , 8SEA , 8SEB , 8SV8 , 8WWX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00899	ThiF	15 → 410	ThiF family	Domain
PF16190	E1_FCCH	187 → 258	Ubiquitin-activating enzyme E1 FCCH domain	Domain
PF16191	E1_4HB	259 → 327	Ubiquitin-activating enzyme E1 four-helix bundle	Domain
PF00899	ThiF	415 → 910	ThiF family	Domain
PF10585	UBA_e1_thiolCys	605 → 843	Ubiquitin-activating enzyme active site	Domain
PF09358	E1_UFD	914 → 1008	Ubiquitin fold domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in a variety of normal and tumor cell types, but is reduced in lung cancer cell lines.

Sequence

MDALDASKLLDEELYSRQLYVLGSPAMQRIQGARVLVSGLQGLGAEVAKNLVLMGVGSLT
LHDPHPTCWSDLAAQFLLSEQDLERSRAEASQELLAQLNRAVQVVVHTGDITEDLLLDFQ
VVVLTAAKLEEQLKVGTLCHKHGVCFLAADTRGLVGQLFCDFGEDFTVQDPTEAEPLTAA
IQHISQGSPGILTLRKGANTHYFRDGDLVTFSGIEGMVELNDCDPRSIHVREDGSLEIGD
TTTFSRYLRGGAITEVKRPKTVRHKSLDTALLQPHVVAQSSQEVHHAHCLHQAFCALHKF
QHLHGRPPQPWDPVDAETVVGLARDLEPLKRTEEEPLEEPLDEALVRTVALSSAGVLSPM
VAMLGAVAAQEVLKAISRKFMPLDQWLYFDALDCLPEDGELLPSPEDCALRGSRYDGQIA
VFGAGFQEKLRRQHYLLVGAGAIGCELLKVFALVGLGAGNSGGLTVVDMDHIERSNLSRQ
FLFRSQDVGRPKAEVAAAAARGLNPDLQVIPLTYPLDPTTEHIYGDNFFSRVDGVAAALD
SFQARRYVAARCTHYLKPLLEAGTSGTWGSATVFMPHVTEAYRAPASAAASEDAPYPVCT
VRYFPSTAEHTLQWARHEFEELFRLSAETINHHQQAHTSLADMDEPQTLTLLKPVLGVLR
VRPQNWQDCVAWALGHWKLCFHYGIKQLLRHFPPNKVLEDGTPFWSGPKQCPQPLEFDTN
QDTHLLYVLAAANLYAQMHGLPGSQDWTALRELLKLLPQPDPQQMAPIFASNLELASASA
EFGPEQQKELNKALEVWSVGPPLKPLMFEKDDDSNFHVDFVVAAASLRCQNYGIPPVNRA
QSKRIVGQIIPAIATTTAAVAGLLGLELYKVVSGPRPRSAFRHSYLHLAENYLIRYMPFA
PAIQTFHHLKWTSWDRLKVPAGQPERTLESLLAHLQEQHGLRVRILLHGSALLYAAGWSP
EKQAQHLPLRVTELVQQLTGQAPAPGQRVLVLELSCEGDDEDTAFPPLHYEL

Sequence length

1012

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Parkinson disease Pathways of neurodegeneration - multiple diseases		ISG15 antiviral mechanism DDX58/IFIH1-mediated induction of interferon-alpha/beta Termination of translesion DNA synthesis Negative regulators of DDX58/IFIH1 signaling Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intellectual disability	Uncertain significance	rs2081514066	RCV001261390
Lung cancer	Benign	rs141482367	RCV005913261
Malignant tumor of urinary bladder	Likely benign	rs116746221	RCV005911961
UBA7-related disorder	Uncertain significance; Likely benign; Benign	rs554429106, rs2081531657, rs2234380, rs144077688, rs114065231, rs781390167, rs778754440, rs768888392, rs115185290, rs118020287, rs141890605	RCV003928972 RCV003392994 RCV003919766 RCV003981727 RCV003974175 RCV003981382 RCV003911781 RCV003954905 RCV003924426 RCV003957092 RCV003972159

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	39684409
Carcinogenesis	Associate	19074853
Carcinoma Renal Cell	Associate	39871215
Diabetes Mellitus Type 2	Associate	26606528
Endometrial Neoplasms	Associate	37803076
Head and Neck Neoplasms	Associate	36010616
Inflammation	Associate	39684409
Inflammatory Bowel Diseases	Associate	25766683
Leukemia Lymphocytic Chronic B Cell	Associate	40158006
Lung Neoplasms	Associate	19074853, 7734949
Mesothelioma Malignant	Inhibit	19218339
Myelodysplastic Syndromes	Associate	40158006
Neoplasms	Associate	39684409
Neoplasms	Inhibit	40158006
Non alcoholic Fatty Liver Disease	Associate	26845596
Obesity	Associate	23251400
Obesity Morbid	Associate	23251400
Rett Syndrome	Associate	10745042
Squamous Cell Carcinoma of Head and Neck	Associate	35615976
VEXAS syndrome	Associate	34611997

UBA7 (ubiquitin like modifier activating enzyme 7)