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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7318
Gene name Gene Name - the full gene name approved by the HGNC.	Ubiquitin like modifier activating enzyme 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UBA7
Synonyms (NCBI Gene) Gene synonyms aliases	D8, UBA1B, UBE1L, UBE2, UBE7
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732231	hsa-miR-455-5p	Luciferase reporter assay, qRT-PCR, Western blot	27235675
MIRT732231	hsa-miR-455-5p	Luciferase reporter assay, qRT-PCR, Western 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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
PML	Repression	11891284

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	18583345, 19073728
GO:0005515	Function	Protein binding	IPI	16189514, 17597759, 25416956, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006464	Process	Cellular protein modification process	IDA	16428300
GO:0006974	Process	Cellular response to DNA damage stimulus	IBA	21873635
GO:0016567	Process	Protein ubiquitination	IEA
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0019782	Function	ISG15 activating enzyme activity	IBA	21873635
GO:0019782	Function	ISG15 activating enzyme activity	IDA	16428300
GO:0019941	Process	Modification-dependent protein catabolic process	IEA
GO:0032020	Process	ISG15-protein conjugation	IBA	21873635
GO:0032020	Process	ISG15-protein conjugation	IDA	16428300
GO:0032446	Process	Protein modification by small protein conjugation	IBA	21873635
GO:0032480	Process	Negative regulation of type I interferon production	TAS

MIM	HGNC	e!Ensembl
191325	12471	ENSG00000182179

Protein

UniProt ID

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 Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	19014429

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Mental depression	Major Depressive Disorder	29942085	ClinVar
Diabetes	Diabetes		GWAS
Insomnia	Insomnia		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
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)