Gene Gene information from NCBI Gene database.
Entrez ID 23409
Gene name Sirtuin 4
Gene symbol SIRT4
Synonyms (NCBI Gene)
SIR2L4
Chromosome 12
Chromosome location 12q24.23-q24.31
Summary This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been det
miRNA miRNA information provided by mirtarbase database.
16
miRTarBase ID miRNA Experiments Reference
MIRT027077 hsa-miR-103a-3p Sequencing 20371350
MIRT029386 hsa-miR-26b-5p Sequencing 20371350
MIRT031656 hsa-miR-16-5p Sequencing 20371350
MIRT043594 hsa-miR-148b-3p CLASH 23622248
MIRT270454 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000820 Process Regulation of glutamine family amino acid metabolic process IEA
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IBA
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IDA 16959573, 17715127
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity IEA
GO:0003950 Function NAD+ poly-ADP-ribosyltransferase activity TAS 17456799
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604482 14932 ENSG00000089163
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6E7
Protein name NAD-dependent protein lipoamidase sirtuin-4, mitochondrial (EC 2.3.1.-) (NAD-dependent ADP-ribosyltransferase sirtuin-4) (EC 2.4.2.-) (NAD-dependent protein biotinylase sirtuin-4) (EC 2.3.1.-) (NAD-dependent protein deacetylase sirtuin-4) (EC 2.3.1.286) (
Protein function Acts as a NAD-dependent protein lipoamidase, biotinylase, deacetylase and ADP-ribosyl transferase (PubMed:16959573, PubMed:17715127, PubMed:24052263, PubMed:25525879). Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02146 SIR2 62 267 Sir2 family Family
Tissue specificity TISSUE SPECIFICITY: Detected in vascular smooth muscle and striated muscle. Detected in insulin-producing beta-cells in pancreas islets of Langerhans (at protein level). Widely expressed. Weakly expressed in leukocytes and fetal thymus. {ECO:0000269|PubMe
Sequence
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
  Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE Disgenet
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 27941873
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 28582846
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 24368766
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27080717, 31573734
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33962648, 34414449 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 24368766
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23800187 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 26631040 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Endometrioid Endometrioid carcinoma Pubtator 28582846 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28387906, 36308411, 38548246 Associate
★☆☆☆☆
Found in Text Mining only