Gene Gene information from NCBI Gene database.
Entrez ID 55190
Gene name Nudix hydrolase 11
Gene symbol NUDT11
Synonyms (NCBI Gene)
APS1ASP1DIPP3bDIPP3betahDIPP3beta
Chromosome X
Chromosome location Xp11.22
Summary NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
29
miRTarBase ID miRNA Experiments Reference
MIRT048002 hsa-miR-30c-5p CLASH 23622248
MIRT1197452 hsa-miR-122 CLIP-seq
MIRT1197453 hsa-miR-1283 CLIP-seq
MIRT1197454 hsa-miR-2681 CLIP-seq
MIRT1197455 hsa-miR-3065-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000298 Function Endopolyphosphatase activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300528 18011 ENSG00000196368
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96G61
Protein name Diphosphoinositol polyphosphate phosphohydrolase 3-beta (DIPP-3-beta) (DIPP3-beta) (hDIPP3beta) (EC 3.6.1.52) (Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta) (Diadenosine hexaphosphate hydrolase (AMP-forming)) (EC 3.6.1.60) (Nucleoside diphosph
Protein function Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00293 NUDIX 16 143 NUDIX domain Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in testis and, at lower level in brain. According to PubMed:12121577, it is also expressed in pancreas and weakly expressed in thymus, prostate, ovary, lung, small intestine and heart. {ECO:0000269|PubMed:12105228, ECO
Sequence
Sequence length 164
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of pyrophosphates in the cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA 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
Addison Disease Addison`s Disease BEFREE 18200029, 24014553
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 28540407
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 10656108
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 9098524
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 12503856, 16820279, 17466510, 22224765, 24988226, 26312540, 26912174, 9650097, 9888391
★☆☆☆☆
Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1 Autoimmune Polyendocrinopathy BEFREE 12503856, 16552513, 16784312, 26312540, 26912174, 28540407, 29985347, 9888391
★☆☆☆☆
Found in Text Mining only
Autoimmune Syndrome Type II, Polyglandular Polyglandular autoimmune syndrome BEFREE 16784312, 21677034, 24014553
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28887200
★☆☆☆☆
Found in Text Mining only
Capillary malformation (disorder) Capillary malformation BEFREE 26154078
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 29508520, 29670255
★☆☆☆☆
Found in Text Mining only