Gene Gene information from NCBI Gene database.
Entrez ID 54726
Gene name OTU deubiquitinase 4
Gene symbol OTUD4
Synonyms (NCBI Gene)
DUBA6HIN1HSHIN1
Chromosome 4
Chromosome location 4q31.21
Summary Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]
miRNA miRNA information provided by mirtarbase database.
1159
miRTarBase ID miRNA Experiments Reference
MIRT020209 hsa-miR-130b-3p Sequencing 20371350
MIRT023436 hsa-miR-30b-5p Sequencing 20371350
MIRT024997 hsa-miR-183-5p Sequencing 20371350
MIRT027284 hsa-miR-101-3p Sequencing 20371350
MIRT028039 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003723 Function RNA binding HDA 22681889
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 23827681
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611744 24949 ENSG00000164164
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01804
Protein name OTU domain-containing protein 4 (EC 3.4.19.12) (HIV-1-induced protein HIN-1)
Protein function Deubiquitinase which hydrolyzes the isopeptide bond between the ubiquitin C-terminus and the lysine epsilon-amino group of the target protein (PubMed:23827681, PubMed:25944111, PubMed:29395066). May negatively regulate inflammatory and pathogen
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02338 OTU 40 149 OTU-like cysteine protease Family
Sequence
MEAAVGVPDGGDQGGAGPREDATPMDAYLRKLGLYRKLVAKDGSCLFRAVAEQVLHSQSR
HVEVRMACIHYLRENREKFEAFIEGSFEEYLKRLENPQEWVGQVEISALSLMYRKDFIIY
REPNVSPSQVTENNFPEKVLLCFSNGNHY
DIVYPIKYKESSAMCQSLLYELLYEKVFKTD
VSKIVMELDTLEVADEDNSEISDSEDDSCKSKTAAAAADVNGFKPLSGNEQLKNNGNSTS
LPLSRKVLKSLNPAVYRNVEYEIWLKSKQAQQKRDYSIAAGLQYEVGDKCQVRLDHNGKF
LNADVQGIHSENGPVLVEELGKKHTSKNLKAPPPESWNTVSGKKMKKPSTSGQNFHSDVD
YRGPKNPSKPIKAPSALPPRLQHPSGVRQHAFSSHSSGSQSQKFSSEHKNLSRTPSQIIR
KPDRERVEDFDHTSRESNYFGLSPEERREKQAIEESRLLYEIQNRDEQAFPALSSSSVNQ
SASQSSNPCVQRKSSHVGDRKGSRRRMDTEERKDKDSIHGHSQLDKRPEPSTLENITDDK
YATVSSPSKSKKLECPSPAEQKPAEHVSLSNPAPLLVSPEVHLTPAVPSLPATVPAWPSE
PTTFGPTGVPAPIPVLSVTQTLTTGPDSAVSQAHLTPSPVPVSIQAVNQPLMPLPQTLSL
YQDPLYPGFPCNEKGDRAIVPPYSLCQTGEDLPKDKNILRFFFNLGVKAYSCPMWAPHSY
LYPLHQAYLAACRMYPKVPVPVYPHNPWFQEAPAAQNESDCTCTDAHFPMQTEASVNGQM
PQPEIGPPTFSSPLVIPPSQVSESHGQLSYQADLESETPGQLLHADYEESLSGKNMFPQP
SFGPNPFLGPVPIAPPFFPHVWYGYPFQGFIENPVMRQNIVLPSDEKGELDLSLENLDLS
KDCGSVSTVDEFPEARGEHVHSLPEASVSSKPDEGRTEQSSQTRKADTALASIPPVAEGK
AHPPTQILNRERETVPVELEPKRTIQSLKEKTEKVKDPKTAADVVSPGANSVDSRVQRPK
EESSEDENEVSNILRSGRSKQFYNQTYGSRKYKSDWGYSGRGGYQHVRSEESWKGQPSRS
RDEGYQYHRNVRGRPFRGDRRRSGMGDGHRGQHT
Sequence length 1114
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amenorrhea Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 11481438, 12727813, 15131050, 15383627, 17549626, 17611401, 19829046, 24850174, 26370119
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 14614327, 17611401, 17764565, 17998253, 18381931, 19829046, 20505321, 20682973, 22048254, 22695491, 22701537, 22986510, 26370119, 26671626, 33277842 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 15383627, 16266985, 19098448
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 20505321 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma in Situ Carcinoma in situ Pubtator 19098448 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Intraductal Noninfiltrating Intraductal noninfiltrating carcinoma Pubtator 18769130 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Gordon Holmes syndrome BEFREE 24113144
★☆☆☆☆
Found in Text Mining only
Clear cell adenocarcinoma of ovary Ovarian adenocarcinoma BEFREE 22871047
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 19098448
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 19098448
★☆☆☆☆
Found in Text Mining only