• Gene id: 143

Gene Summary

• Gene Symbol: PARP4   Gene   UCSC   Ensembl
• Aliases: ADPRTL1, ARTD4, PARP-4, PARPL, PH5P, VAULT3, VPARP, VWA5C, p193
• Gene name: poly(ADP-ribose) polymerase family member 4
• Alternate names: protein mono-ADP-ribosyltransferase PARP4, 193 kDa vault protein, ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1, ADP-ribosyltransferase diphtheria toxin-like 4, H5 proline-rich, I-alpha-I-related, PARP-related, PARP-related/IalphaI-related H,
• Gene location: 13q12.12 (24512992: 24420929)     Exons: 36     NC_000013.11
• Gene summary(Entrez): This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA
• OMIM: 618722

SNPs

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

Protein Summary

• Protein general information: Q9UKK3  
  • Name: Protein mono ADP ribosyltransferase PARP4 (EC 2.4.2. ) (193 kDa vault protein) (ADP ribosyltransferase diphtheria toxin like 4) (ARTD4) (PARP related/IalphaI related H5/proline rich) (PH5P) (Poly [ADP ribose] polymerase 4) (PARP 4) (Vault poly(ADP ribose)
  • Length: 1724  
  • Mass: 192595
  • Tissue specificity: Widely expressed; the highest levels are in the kidney; also detected in heart, placenta, lung, liver, skeletal muscle, spleen, leukocytes and pancreas. {ECO
• Sequence:

  MVMGIFANCIFCLKVKYLPQQQKKKLQTDIKENGGKFSFSLNPQCTHIILDNADVLSQYQLNSIQKNHVHIANPD
  FIWKSIREKRLLDVKNYDPYKPLDITPPPDQKASSSEVKTEGLCPDSATEEEDTVELTEFGMQNVEIPHLPQDFE
  VAKYNTLEKVGMEGGQEAVVVELQCSRDSRDCPFLISSHFLLDDGMETRRQFAIKKTSEDASEYFENYIEELKKQ
  GFLLREHFTPEATQLASEQLQALLLEEVMNSSTLSQEVSDLVEMIWAEALGHLEHMLLKPVNRISLNDVSKAEGI
  LLLVKAALKNGETAEQLQKMMTEFYRLIPHKGTMPKEVNLGLLAKKADLCQLIRDMVNVCETNLSKPNPPSLAKY
  RALRCKIEHVEQNTEEFLRVRKEVLQNHHSKSPVDVLQIFRVGRVNETTEFLSKLGNVRPLLHGSPVQNIVGILC
  RGLLLPKVVEDRGVQRTDVGNLGSGIYFSDSLSTSIKYSHPGETDGTRLLLICDVALGKCMDLHEKDFSLTEAPP
  GYDSVHGVSQTASVTTDFEDDEFVVYKTNQVKMKYIIKFSMPGDQIKDFHPSDHTELEEYRPEFSNFSKVEDYQL
  PDAKTSSSTKAGLQDASGNLVPLEDVHIKGRIIDTVAQVIVFQTYTNKSHVPIEAKYIFPLDDKAAVCGFEAFIN
  GKHIVGEIKEKEEAQQEYLEAVTQGHGAYLMSQDAPDVFTVSVGNLPPKAKVLIKITYITELSILGTVGVFFMPA
  TVAPWQQDKALNENLQDTVEKICIKEIGTKQSFSLTMSIEMPYVIEFIFSDTHELKQKRTDCKAVISTMEGSSLD
  SSGFSLHIGLSAAYLPRMWVEKHPEKESEACMLVFQPDLDVDLPDLASESEVIICLDCSSSMEGVTFLQAKQIAL
  HALSLVGEKQKVNIIQFGTGYKELFSYPKHITSNTMAAEFIMSATPTMGNTDFWKTLRYLSLLYPARGSRNILLV
  SDGHLQDESLTLQLVKRSRPHTRLFACGIGSTANRHVLRILSQCGAGVFEYFNAKSKHSWRKQIEDQMTRLCSPS
  CHSVSVKWQQLNPDVPEALQAPAQVPSLFLNDRLLVYGFIPHCTQATLCALIQEKEFRTMVSTTELQKTTGTMIH
  KLAARALIRDYEDGILHENETSHEMKKQTLKSLIIKLSKENSLITQFTSFVAVEKRDENESPFPDIPKVSELIAK
  EDVDFLPYMSWQGEPQEAVRNQSLLASSEWPELRLSKRKHRKIPFSKRKMELSQPEVSEDFEEDGLGVLPAFTSN
  LERGGVEKLLDLSWTESCKPTATEPLFKKVSPWETSTSSFFPILAPAVGSYLPPTARAHSPASLSFASYRQVASF
  GSAAPPRQFDASQFSQGPVPGTCADWIPQSASCPTGPPQNPPSSPYCGIVFSGSSLSSAQSAPLQHPGGFTTRPS
  AGTFPELDSPQLHFSLPTDPDPIRGFGSYHPSASSPFHFQPSAASLTANLRLPMASALPEALCSQSRTTPVDLCL
  LEESVGSLEGSRCPVFAFQSSDTESDELSEVLQDSCFLQIKCDTKDDSILCFLEVKEEDEIVCIQHWQDAVPWTE
  LLSLQTEDGFWKLTPELGLILNLNTNGLHSFLKQKGIQSLGVKGRECLLDLIATMLVLQFIRTRLEKEGIVFKSL
  MKMDDASISRNIPWAFEAIKQASEWVRRTEGQYPSICPRLELGNDWDSATKQLLGLQPISTVSPLHRVLHYSQG

• Structural information:
  • Protein Domains: (1..9-)
    (/note="BRCT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (242..37-)
    (/note="PARP-alpha-helical)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00398-)
    (369..57-)
    (/note="PARP-catalytic)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR001357  IPR036420  IPR031273  IPR012317  IPR004102   IPR036616  IPR013694  IPR002035  IPR036465  
  • Prosite: PS50172 PS51060 PS51059 PS51468 PS50234
  • STRING: ENSP00000371419
• Other Databases: GeneCards:  PARP4  Malacards:  PARP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005876	spindle microtubule	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0140289	protein mono-ADP-ribosylation	IDA	biological process
GO:1990404	protein ADP-ribosylase activity	IDA	molecular function
GO:0006471	protein ADP-ribosylation	IEA	biological process
GO:0003950	NAD+ ADP-ribosyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003950	NAD+ ADP-ribosyltransferase activity	TAS	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0006464	cellular protein modification process	TAS	biological process
GO:0019899	enzyme binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051972	regulation of telomerase activity	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006464	cellular protein modification process	IDA	biological process
GO:0003950	NAD+ ADP-ribosyltransferase activity	IDA	molecular function
GO:0008219	cell death	IMP	biological process
GO:0005634	nucleus	NAS	cellular component
GO:1990904	ribonucleoprotein complex	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006471	protein ADP-ribosylation	NAS	biological process
GO:0006281	DNA repair	NAS	biological process
GO:0042493	response to drug	NAS	biological process
GO:0006974	cellular response to DNA damage stimulus	NAS	biological process
GO:0006954	inflammatory response	IMP	biological process
GO:0003950	NAD+ ADP-ribosyltransferase activity	NAS	molecular function
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis
hsa03410	Base excision repair

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray