• Gene id: 22976

Gene Summary

• Gene Symbol: PAXIP1   Gene   UCSC   Ensembl
• Aliases: CAGF28, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2
• Gene name: PAX interacting protein 1
• Alternate names: PAX-interacting protein 1, PAX interacting (with transcription-activation domain) protein 1, PAX transcription activation domain interacting protein 1 like, protein encoded by CAG trinucleotide repeats,
• Gene location: 7q36.2 (155003418: 154943689)     Exons: 24     NC_000007.14
• Gene summary(Entrez): This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression t
• OMIM: 612835

Protein Summary

• Protein general information: Q6ZW49  
  • Name: PAX interacting protein 1 (PAX transactivation activation domain interacting protein)
  • Length: 1069  
  • Mass: 121341
• Sequence:

  MSDQAPKVPEEMFREVKYYAVGDIDPQVIQLLKAGKAKEVSYNALASHIISEDGDNPEVGEAREVFDLPVVKPSW
  VILSVQCGTLLPVNGFSPESCQIFFGITACLSQVSSEDRSALWALVTFYGGDCQLTLNKKCTHLIVPEPKGEKYE
  CALKRASIKIVTPDWVLDCVSEKTKKDEAFYHPRLIIYEEEEEEEEEEEEVENEEQDSQNEGSTDEKSSPASSQE
  GSPSGDQQFSPKSNTEKSKGELMFDDSSDSSPEKQERNLNWTPAEVPQLAAAKRRLPQGKEPGLINLCANVPPVP
  GNILPPEVRGNLMAAGQNLQSSERSEMIATWSPAVRTLRNITNNADIQQMNRPSNVAHILQTLSAPTKNLEQQVN
  HSQQGHTNANAVLFSQVKVTPETHMLQQQQQAQQQQQQHPVLHLQPQQIMQLQQQQQQQISQQPYPQQPPHPFSQ
  QQQQQQQAHPHQFSQQQLQFPQQQLHPPQQLHRPQQQLQPFQQQHALQQQFHQLQQHQLQQQQLAQLQQQHSLLQ
  QQQQQQIQQQQLQRMHQQQQQQQMQSQTAPHLSQTSQALQHQVPPQQPPQQQQQQQPPPSPQQHQLFGHDPAVEI
  PEEGFLLGCVFAIADYPEQMSDKQLLATWKRIIQAHGGTVDPTFTSRCTHLLCESQVSSAYAQAIRERKRCVTAH
  WLNTVLKKKKMVPPHRALHFPVAFPPGGKPCSQHIISVTGFVDSDRDDLKLMAYLAGAKYTGYLCRSNTVLICKE
  PTGLKYEKAKEWRIPCVNAQWLGDILLGNFEALRQIQYSRYTAFSLQDPFAPTQHLVLNLLDAWRVPLKVSAELL
  MSIRLPPKLKQNEVANVQPSSKRARIEDVPPPTKKLTPELTPFVLFTGFEPVQVQQYIKKLYILGGEVAESAQKC
  THLIASKVTRTVKFLTAISVVKHIVTPEWLEECFRCQKFIDEQNYILRDAEAEVLFSFSLEESLKRAHVSPLFKA
  KYFYITPGICPSLSTMKAIVECAGGKVLSKQPSFRKLMEHKQNSSLSEIILISCENDLHLCREYFARGIDVHNAE
  FVLTGVLTQTLDYESYKFN

• Structural information:
  • Protein Domains: (8..9-)
    (/note="BRCT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (94..18-)
    (/note="BRCT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (601..69-)
    (/note="BRCT-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (-)
  • Interpro: IPR001357  IPR036420  
  • Prosite: PS50172
  • PDB: 3SQD
  • PDBsum: 3SQD
  • DIP: 41786
  • STRING: ENSP00000384048
• Other Databases: GeneCards:  PAXIP1  Malacards:  PAXIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0044666	MLL3/4 complex	IDA	cellular component
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051571	positive regulation of histone H3-K4 methylation	ISS	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IMP	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	ISS	biological process
GO:0045830	positive regulation of isotype switching	ISS	biological process
GO:0035066	positive regulation of histone acetylation	ISS	biological process
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0000416	positive regulation of histone H3-K36 methylation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902749	regulation of cell cycle G2/M phase transition	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	IEA	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0035097	histone methyltransferase complex	IEA	cellular component
GO:0001570	vasculogenesis	IEA	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IEA	biological process
GO:0060717	chorion development	IEA	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IEA	biological process
GO:0048304	positive regulation of isotype switching to IgG isotypes	IEA	biological process
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0035066	positive regulation of histone acetylation	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000416	positive regulation of histone H3-K36 methylation	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq