• Gene id: 23409

Gene Summary

• Gene Symbol: SIRT4   Gene   UCSC   Ensembl
• Aliases: SIR2L4
• Gene name: sirtuin 4
• Alternate names: NAD-dependent protein lipoamidase sirtuin-4, mitochondrial, NAD-dependent ADP-ribosyltransferase sirtuin-4, NAD-dependent protein deacetylase sirtuin-4, SIR2-like protein 4, regulatory protein SIR2 homolog 4, sir2-like 4, sirtuin type 4,
• Gene location: 12q24.23-q24.31 (798280: 790474)     Exons: 15     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 604482

Protein Summary

• Protein general information: Q9Y6E7  
  • 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 deacetylase sirtuin 4) (EC 2.3.1.286) (Regulatory protein SIR2 homolog 4) (SIR2 like protein 4)
  • Length: 314  
  • Mass: 35188
  • 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
• Sequence:

  MKMSFALTFRSAKGRWIANPSQPCSKASIGLFVPASPPLDPEKVKELQRFITLSKRLLVMTGAGISTESGIPDYR
  SEKVGLYARTDRRPIQHGDFVRSAPIRQRYWARNFVGWPQFSSHQPNPAHWALSTWEKLGKLYWLVTQNVDALHT
  KAGSRRLTELHGCMDRVLCLDCGEQTPRGVLQERFQVLNPTWSAEAHGLAPDGDVFLSEEQVRSFQVPTCVQCGG
  HLKPDVVFFGDTVNPDKVDFVHKRVKEADSLLVVGSSLQVYSGYRFILTAWEKKLPIAILNIGPTRSDDLACLKL
  NSRCGELLPLIDPC

• Structural information:
  • Protein Domains: (45..31-)
    (/note="Deacetylase-sirtuin-type)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03161"-)
  • Interpro: IPR029035  IPR003000  IPR026591  IPR026587  IPR026590  
  • Prosite: PS50305
  • STRING: ENSP00000202967
• Other Databases: GeneCards:  SIRT4  Malacards:  SIRT4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034979	NAD-dependent protein deacetylase activity	IDA	NOT|molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	IDA	molecular function
GO:0003950	NAD+ ADP-ribosyltransferase activity	IDA	molecular function
GO:0047708	biotinidase activity	IDA	molecular function
GO:0061690	lipoamidase activity	IDA	molecular function
GO:1904182	regulation of pyruvate dehydrogenase activity	IDA	biological process
GO:0072350	tricarboxylic acid metabolic process	ISS	biological process
GO:0046676	negative regulation of insulin secretion	IMP	biological process
GO:0006471	protein ADP-ribosylation	ISS	biological process
GO:0046889	positive regulation of lipid biosynthetic process	ISS	biological process
GO:0046322	negative regulation of fatty acid oxidation	ISS	biological process
GO:0034983	peptidyl-lysine deacetylation	ISS	biological process
GO:0006974	cellular response to DNA damage stimulus	ISS	biological process
GO:0006541	glutamine metabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046322	negative regulation of fatty acid oxidation	IMP	biological process
GO:0070403	NAD+ binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0003950	NAD+ ADP-ribosyltransferase activity	IDA	molecular function
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904182	regulation of pyruvate dehydrogenase activity	IEA	biological process
GO:0046889	positive regulation of lipid biosynthetic process	IEA	biological process
GO:0046322	negative regulation of fatty acid oxidation	IEA	biological process
GO:0034983	peptidyl-lysine deacetylation	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003950	NAD+ ADP-ribosyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0072350	tricarboxylic acid metabolic process	IEA	biological process
GO:0061690	lipoamidase activity	IEA	molecular function
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0000820	regulation of glutamine family amino acid metabolic process	IEA	biological process
GO:1903217	negative regulation of protein processing involved in protein targeting to mitochondrion	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0006471	protein ADP-ribosylation	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0006471	protein ADP-ribosylation	ISS	biological process
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0006476	protein deacetylation	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0070403	NAD+ binding	IEA	molecular function
GO:0003950	NAD+ ADP-ribosyltransferase activity	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R