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Aliases for PAXIP1 Gene

Aliases for PAXIP1 Gene

  • PAX Interacting Protein 1 2 3
  • PAX Interacting (With Transcription-Activation Domain) Protein 1 2 3 5
  • PAX Transcription Activation Domain Interacting Protein 1 Like 2 3
  • PAXIP1L 3 4
  • PTIP 3 4
  • PAX Transactivation Activation Domain-Interacting Protein 4
  • Protein Encoded By CAG Trinucleotide Repeats 3
  • CAGF28 3
  • CAGF29 3
  • PACIP1 3
  • TNRC2 3

External Ids for PAXIP1 Gene

Previous HGNC Symbols for PAXIP1 Gene

  • PAXIP1L

Previous GeneCards Identifiers for PAXIP1 Gene

  • GC07M154174
  • GC07M154366
  • GC07M154735
  • GC07M148468

Summaries for PAXIP1 Gene

Entrez Gene Summary for PAXIP1 Gene

  • 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 through mitosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for PAXIP1 Gene

PAXIP1 (PAX Interacting Protein 1) is a Protein Coding gene. Diseases associated with PAXIP1 include Alzheimer Disease. Among its related pathways are DNA Double-Strand Break Repair and Developmental Biology. An important paralog of this gene is MDC1.

UniProtKB/Swiss-Prot for PAXIP1 Gene

  • Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at Ser-25. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probbaly independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at Lys-4 and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity).

Gene Wiki entry for PAXIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAXIP1 Gene

Genomics for PAXIP1 Gene

Regulatory Elements for PAXIP1 Gene

Enhancers for PAXIP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PAXIP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAXIP1 Gene

Chromosome:
7
Start:
154,943,687 bp from pter
End:
155,003,178 bp from pter
Size:
59,492 bases
Orientation:
Minus strand

Genomic View for PAXIP1 Gene

Genes around PAXIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAXIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAXIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAXIP1 Gene

Proteins for PAXIP1 Gene

  • Protein details for PAXIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZW49-PAXI1_HUMAN
    Recommended name:
    PAX-interacting protein 1
    Protein Accession:
    Q6ZW49
    Secondary Accessions:
    • O15404
    • Q6N099
    • Q6ZWH9
    • Q7Z315
    • Q86UN0
    • Q8N4P9
    • Q96HP2

    Protein attributes for PAXIP1 Gene

    Size:
    1069 amino acids
    Molecular mass:
    121341 Da
    Quaternary structure:
    • Interacts with the C-terminal transactivation domain of PAX2 (By similarity). Forms a constitutive complex with PAGR1 independently of the MLL2/MLL3 complex. Interacts with TP53BP1 (phosphorylated at Ser-25). Interacts with HLTF. Component of the KMT2 family MLL2/MLL3 complex (also named ASCOM complex), at least composed of the HMTs KMT2D and/or KMT2C, the common subunits ASH2L, RBBP5, WDR5 and DPY30, and the complex type-specific subunits PAXIP1/PTIP, PAGR1, NCOA6 and KDM6A; required for the association of PAGR1 with the MLL2/MLL3 complex.
    SequenceCaution:
    • Sequence=AAB91434.1; Type=Frameshift; Positions=643, 662; Evidence={ECO:0000305}; Sequence=AAH33781.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH33781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=AAP21865.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC85523.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PAXIP1 Gene

    Alternative splice isoforms for PAXIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAXIP1 Gene

Proteomics data for PAXIP1 Gene at MOPED

Post-translational modifications for PAXIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAXIP1 Gene

No data available for DME Specific Peptides for PAXIP1 Gene

Domains & Families for PAXIP1 Gene

Gene Families for PAXIP1 Gene

Protein Domains for PAXIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PAXIP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZW49

UniProtKB/Swiss-Prot:

PAXI1_HUMAN :
  • The BRCT 1 and 2 domains mediate the interaction with PAGR1A.
Domain:
  • The BRCT 1 and 2 domains mediate the interaction with PAGR1A.
  • The BRCT 5 and 6 domains mediate the association with the MLL2/MLL3 complex (By similarity). The BRCT 5 and 6 domains function as a single module and are necessary and sufficient for in vitro phospho-specific binding (substrates phosphorylated by the kinases ataxia telangiectasia-mutated (ATM), ataxia telangiectasia and RAD3-related (ATR) in response to gamma irradiation). In contrast, in vivo two pairs of BRCT domains (3-6) bind to phosphorylated TP53BP1 much more efficiently.
  • Contains 6 BRCT domains.
genes like me logo Genes that share domains with PAXIP1: view

Function for PAXIP1 Gene

Molecular function for PAXIP1 Gene

UniProtKB/Swiss-Prot Function:
Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at Ser-25. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probbaly independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at Lys-4 and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity).
genes like me logo Genes that share phenotypes with PAXIP1: view

Animal Model Products

CRISPR Products

miRNA for PAXIP1 Gene

miRTarBase miRNAs that target PAXIP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAXIP1 Gene

Localization for PAXIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAXIP1 Gene

Nucleus matrix. Note=Localizes to DNA damage foci upon ionizing radiation. {ECO:0000269 PubMed:15456759, ECO:0000269 PubMed:17690115}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAXIP1 Gene COMPARTMENTS Subcellular localization image for PAXIP1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for PAXIP1 Gene

Pathways & Interactions for PAXIP1 Gene

genes like me logo Genes that share pathways with PAXIP1: view

Gene Ontology (GO) - Biological Process for PAXIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000416 positive regulation of histone H3-K36 methylation ISS --
GO:0001570 vasculogenesis IEA --
GO:0006281 DNA repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with PAXIP1: view

No data available for SIGNOR curated interactions for PAXIP1 Gene

Drugs & Compounds for PAXIP1 Gene

No Compound Related Data Available

Transcripts for PAXIP1 Gene

Unigene Clusters for PAXIP1 Gene

PAX interacting (with transcription-activation domain) protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PAXIP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^
SP1: - - - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:
SP7:

ExUns: 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PAXIP1 Gene

GeneLoc Exon Structure for
PAXIP1
ECgene alternative splicing isoforms for
PAXIP1

Expression for PAXIP1 Gene

mRNA expression in normal human tissues for PAXIP1 Gene

mRNA differential expression in normal tissues according to GTEx for PAXIP1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.1) and Brain - Cerebellum (x4.7).

Protein differential expression in normal tissues from HIPED for PAXIP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.5), Fetal gut (15.5), Placenta (8.4), Blymphocyte (8.2), and Retina (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PAXIP1 Gene



SOURCE GeneReport for Unigene cluster for PAXIP1 Gene Hs.443881

genes like me logo Genes that share expression patterns with PAXIP1: view

Protein tissue co-expression partners for PAXIP1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PAXIP1 Gene

Orthologs for PAXIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAXIP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAXIP1 36
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAXIP1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAXIP1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paxip1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAXIP1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAXIP1 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAXIP1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAXIP1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3586 35
zebrafish
(Danio rerio)
Actinopterygii paxip1 35
  • 65.74 (n)
  • 68.61 (a)
wufa04b06 35
paxip1 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3230 35
fruit fly
(Drosophila melanogaster)
Insecta ptip 36
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pis-1 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10700 36
  • 32 (a)
OneToOne
Species with no ortholog for PAXIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAXIP1 Gene

ENSEMBL:
Gene Tree for PAXIP1 (if available)
TreeFam:
Gene Tree for PAXIP1 (if available)

Paralogs for PAXIP1 Gene

Paralogs for PAXIP1 Gene

genes like me logo Genes that share paralogs with PAXIP1: view

Variants for PAXIP1 Gene

Sequence variations from dbSNP and Humsavar for PAXIP1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_034627 -
rs893942 -- 154,967,961(+) TATGC(C/T)TGCAC intron-variant
rs893943 -- 154,973,297(+) GGCAC(C/T)GAAGC intron-variant
rs935037 -- 154,968,659(+) TGGGC(A/G)AGCTG reference, synonymous-codon
rs1058833 -- 154,975,973(-) AAACT(A/G)GACCC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for PAXIP1 Gene

Variant ID Type Subtype PubMed ID
nsv483088 CNV Loss 15286789

Variation tolerance for PAXIP1 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.72; 86.56% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PAXIP1 Gene

Disorders for PAXIP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAXIP1 Gene - From: OMIM

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PAXIP1

Genetic Association Database (GAD)
PAXIP1
Human Genome Epidemiology (HuGE) Navigator
PAXIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAXIP1
genes like me logo Genes that share disorders with PAXIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAXIP1 Gene

Publications for PAXIP1 Gene

  1. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis R.L. … Ross C.A. (Hum. Genet. 1997) 2 3 4 67
  2. Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage. (PMID: 19124460) Gong Z. … Chen J. (J. Biol. Chem. 2009) 3 23
  3. Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation. (PMID: 15456759) Jowsey P.A. … Rouse J. (J. Biol. Chem. 2004) 3 23
  4. BRCT repeats as phosphopeptide-binding modules involved in protein targeting. (PMID: 14576432) Manke I.A. … Yaffe M.B. (Science 2003) 3 23
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3

Products for PAXIP1 Gene

Sources for PAXIP1 Gene

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