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    SIRT4 sirtuin 4 [ Homo sapiens (human) ]

    Gene ID: 23409, updated on 10-Dec-2024

    Summary

    Official Symbol
    SIRT4provided by HGNC
    Official Full Name
    sirtuin 4provided by HGNC
    Primary source
    HGNC:HGNC:14932
    See related
    Ensembl:ENSG00000089163 MIM:604482; AllianceGenome:HGNC:14932
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SIR2L4
    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 determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 2.4), kidney (RPKM 1.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SIRT4 in Genome Data Viewer
    Location:
    12q24.23-q24.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120291780..120313249)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120277808..120300434)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120729992..120751052)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene paxillin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7137 Neighboring gene ribosomal protein S20 pseudogene 31 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120697989-120698555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120717966-120718466 Neighboring gene hESC enhancers GRCh37_chr12:120727716-120728708 and GRCh37_chr12:120728709-120729700 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120730693-120731684 Neighboring gene NME2 pseudogene 1 Neighboring gene RNA, U4 small nuclear 2 Neighboring gene RNA, U4 small nuclear 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120752165-120752348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120753363-120754138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7139 Neighboring gene RNA, U6 small nuclear 1088, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7140 Neighboring gene phospholipase A2 group IB Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120794238-120794738 Neighboring gene musashi RNA binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120796175-120796787 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120796788-120797399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120798696-120799414 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120799415-120800132 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120803530-120803720

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC57437, MGC130046, MGC130047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables NAD+ binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NAD+-protein ADP-ribosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables NAD+-protein poly-ADP-ribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NAD+-protein poly-ADP-ribosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables NAD+-protein-cysteine ADP-ribosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables NAD-dependent protein biotinidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NAD-dependent protein lipoamidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables NAD-dependent protein lysine deacetylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone deacetylase activity, NAD-dependent IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lipoamidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrion organization TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fatty acid oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fatty acid oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein processing involved in protein targeting to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-lysine deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lipid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of glutamine family amino acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of pyruvate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tricarboxylic acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NAD-dependent protein lipoamidase sirtuin-4, mitochondrial
    Names
    NAD-dependent ADP-ribosyltransferase sirtuin-4
    NAD-dependent protein biotinylase sirtuin-4
    NAD-dependent protein deacetylase sirtuin-4
    SIR2-like protein 4
    regulatory protein SIR2 homolog 4
    sir2-like 4
    sirtuin type 4
    NP_001372662.1
    NP_001372663.1
    NP_001372664.1
    NP_036372.1
    XP_006719372.1
    XP_054227554.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001385733.2NP_001372662.1  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC003982, AC004263
      Consensus CDS
      CCDS9194.1
      UniProtKB/Swiss-Prot
      O43346, Q32M33, Q9Y6E7
      Conserved Domains (1) summary
      cd01409
      Location:47308
      SIRT4; Eukaryotic and prokaryotic group (class2) which includes human sirtuin SIRT4 and several bacterial homologs; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone ...
    2. NM_001385734.1NP_001372663.1  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC003982
      Conserved Domains (1) summary
      cl00195
      Location:47217
      SIR2; SIR2 superfamily of proteins includes silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation, where the acetyl group from the lysine epsilon-amino group is transferred to the ADP-ribose moiety of NAD+, ...
    3. NM_001385735.2NP_001372664.1  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC003982, AC004263
      Conserved Domains (1) summary
      cl00195
      Location:47217
      SIR2; SIR2 superfamily of proteins includes silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation, where the acetyl group from the lysine epsilon-amino group is transferred to the ADP-ribose moiety of NAD+, ...
    4. NM_012240.3NP_036372.1  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_036372.1

      Status: REVIEWED

      Source sequence(s)
      AC003982
      Consensus CDS
      CCDS9194.1
      UniProtKB/Swiss-Prot
      O43346, Q32M33, Q9Y6E7
      Related
      ENSP00000202967.4, ENST00000202967.4
      Conserved Domains (1) summary
      cd01409
      Location:47308
      SIRT4; Eukaryotic and prokaryotic group (class2) which includes human sirtuin SIRT4 and several bacterial homologs; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120291780..120313249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719309.5XP_006719372.1  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006719372.1

      UniProtKB/Swiss-Prot
      O43346, Q32M33, Q9Y6E7
      Conserved Domains (1) summary
      cd01409
      Location:47308
      SIRT4; Eukaryotic and prokaryotic group (class2) which includes human sirtuin SIRT4 and several bacterial homologs; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120277808..120300434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371579.1XP_054227554.1  NAD-dependent protein lipoamidase sirtuin-4, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      O43346, Q32M33, Q9Y6E7