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Aliases for JADE1 Gene

Aliases for JADE1 Gene

  • Jade Family PHD Finger 1 2 3 5
  • PHD Finger Protein 17 2 3 4
  • Jade Family PHD Finger Protein 1 3 4
  • PHF17 3 4
  • Gene For Apoptosis And Differentiation In Epithelia 3
  • PHD Protein Jade-1 3
  • Protein Jade-1 3
  • KIAA1807 4

External Ids for JADE1 Gene

Previous HGNC Symbols for JADE1 Gene

  • PHF17

Previous GeneCards Identifiers for JADE1 Gene

  • GC04P130189
  • GC04P129731

Summaries for JADE1 Gene

GeneCards Summary for JADE1 Gene

JADE1 (Jade Family PHD Finger 1) is a Protein Coding gene. Among its related pathways are Chromatin organization. GO annotations related to this gene include RNA polymerase II transcription coactivator activity. An important paralog of this gene is JADE2.

UniProtKB/Swiss-Prot for JADE1 Gene

  • Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator, it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function.

Gene Wiki entry for JADE1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JADE1 Gene

Genomics for JADE1 Gene

Regulatory Elements for JADE1 Gene

Enhancers for JADE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F128916 1.3 FANTOM5 Ensembl ENCODE 12.7 +107.9 107889 2.6 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 RFX5 CBX5 CREM CBFB SCLT1 C4orf33 JADE1 ENSG00000275647 PIR40738
GH04F128912 1.1 FANTOM5 Ensembl 12.4 +103.8 103778 1.6 CBX5 IKZF1 NBN BMI1 EBF1 TBX21 SPI1 SCLT1 JADE1 C4orf33 ENSG00000275647 PIR40738
GH04F128858 0.8 Ensembl ENCODE 12.3 +50.0 49997 2.8 HDGF CTCF SUZ12 POLR2A EED FOS CREM MAFK NFE2L2 PAF1 C4orf33 JADE1 SCLT1 PIR40738 ENSG00000275647
GH04F128853 0.2 ENCODE 12.3 +45.3 45318 3.2 PAF1 ZBTB40 JADE1 PGRMC2 LOC100507487 C4orf33 SCLT1 PIR40738
GH04F128861 0.9 Ensembl ENCODE 12.3 +53.2 53190 2.2 HDGF CTCF EBF1 ZNF2 RAD21 RELA POLR2A EED SMC3 ZNF654 JADE1 C4orf33 SCLT1 PIR40738 ENSG00000275647
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around JADE1 on UCSC Golden Path with GeneCards custom track

Promoters for JADE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001249468 1678 4600 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for JADE1 Gene

Chromosome:
4
Start:
128,809,623 bp from pter
End:
128,875,224 bp from pter
Size:
65,602 bases
Orientation:
Plus strand

Genomic View for JADE1 Gene

Genes around JADE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JADE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JADE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JADE1 Gene

Proteins for JADE1 Gene

  • Protein details for JADE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IE81-JADE1_HUMAN
    Recommended name:
    Protein Jade-1
    Protein Accession:
    Q6IE81
    Secondary Accessions:
    • D3DNY0
    • D3DNY1
    • Q4W5D5
    • Q6ZSL7
    • Q8NC41
    • Q96JL8
    • Q96SQ1
    • Q9H692

    Protein attributes for JADE1 Gene

    Size:
    842 amino acids
    Molecular mass:
    95533 Da
    Quaternary structure:
    • Component of the HBO1 complex composed at least of ING4 or ING5, KAT7/HBO1, MEAF6, and one of JADE1, JADE2 and JADE3. Isoform 3 interacts with VHL and KAT5. Interacts with NPHP4.
    SequenceCaution:
    • Sequence=BAB15371.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11335.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for JADE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JADE1 Gene

Post-translational modifications for JADE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for JADE1 Gene

Domains & Families for JADE1 Gene

Gene Families for JADE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6IE81

UniProtKB/Swiss-Prot:

JADE1_HUMAN :
  • The 2 PHD-type zinc fingers are required for transcriptional activity.
  • Belongs to the JADE family.
  • Contains 1 C2HC pre-PHD-type zinc finger.
Domain:
  • The 2 PHD-type zinc fingers are required for transcriptional activity.
Family:
  • Belongs to the JADE family.
Similarity:
  • Contains 1 C2HC pre-PHD-type zinc finger.
  • Contains 2 PHD-type zinc fingers.
genes like me logo Genes that share domains with JADE1: view

Function for JADE1 Gene

Molecular function for JADE1 Gene

UniProtKB/Swiss-Prot Function:
Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator, it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function.

Gene Ontology (GO) - Molecular Function for JADE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IDA 23001567
GO:0005515 protein binding IPI 12169691
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with JADE1: view
genes like me logo Genes that share phenotypes with JADE1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JADE1 Gene

Localization for JADE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JADE1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to the ciliary transition zone. {ECO:0000269 PubMed:22654112}.

Gene Ontology (GO) - Cellular Components for JADE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 16387653
GO:0005634 nucleus IEA,IDA 12169691
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 12169691
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with JADE1: view

No data available for Subcellular locations from COMPARTMENTS for JADE1 Gene

Pathways & Interactions for JADE1 Gene

genes like me logo Genes that share pathways with JADE1: view

Pathways by source for JADE1 Gene

Gene Ontology (GO) - Biological Process for JADE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process NAS 12169691
GO:0006950 response to stress NAS 12169691
GO:0030308 negative regulation of cell growth NAS 12169691
genes like me logo Genes that share ontologies with JADE1: view

No data available for SIGNOR curated interactions for JADE1 Gene

Transcripts for JADE1 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JADE1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^
SP1: - - - - - - - - - -
SP2: - -
SP3: - - - - - - -
SP4: -
SP5: - - - -
SP6: - -
SP7: - - -
SP8: - - - -
SP9: - - - - - -
SP10:

ExUns: 14a · 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for JADE1 Gene

GeneLoc Exon Structure for
JADE1
ECgene alternative splicing isoforms for
JADE1

Expression for JADE1 Gene

mRNA expression in normal human tissues for JADE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JADE1 Gene

This gene is overexpressed in Urine (28.5), Monocytes (15.1), and Retina (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JADE1 Gene



NURSA nuclear receptor signaling pathways regulating expression of JADE1 Gene:

JADE1

mRNA Expression by UniProt/SwissProt for JADE1 Gene:

Q6IE81-JADE1_HUMAN
Tissue specificity: Highly expressed in kidney. Also present in pancreas, liver and heart (at protein level). Down-regulated in renal cancer cells.
genes like me logo Genes that share expression patterns with JADE1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for JADE1 Gene

Orthologs for JADE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for JADE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF17 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia JADE1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JADE1 35
  • 95 (a)
OneToOne
PHF17 34
  • 91.45 (n)
mouse
(Mus musculus)
Mammalia Phf17 35
  • 93 (a)
OneToOne
Jade1 34 16
  • 90.3 (n)
rat
(Rattus norvegicus)
Mammalia Jade1 34
  • 90.69 (n)
oppossum
(Monodelphis domestica)
Mammalia JADE1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves JADE1 35
  • 81 (a)
OneToOne
PHF17 34
  • 77.18 (n)
lizard
(Anolis carolinensis)
Reptilia JADE1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jade1 34
  • 67.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19317 34
zebrafish
(Danio rerio)
Actinopterygii jade1 34 35
  • 60.46 (n)
wufi11a04 34
fruit fly
(Drosophila melanogaster)
Insecta rno 35
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for JADE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for JADE1 Gene

ENSEMBL:
Gene Tree for JADE1 (if available)
TreeFam:
Gene Tree for JADE1 (if available)

Paralogs for JADE1 Gene

Paralogs for JADE1 Gene

genes like me logo Genes that share paralogs with JADE1: view

Variants for JADE1 Gene

Sequence variations from dbSNP and Humsavar for JADE1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10006958 -- 128,832,505(+) CTTAT(A/G)TTTTA intron-variant
rs10008441 -- 128,867,754(+) TCAAG(G/T)CCCTA intron-variant
rs10008927 -- 128,808,084(+) TGTGC(A/G)AGGTG upstream-variant-2KB
rs10011413 -- 128,814,484(+) TATTA(C/G)TTTTC intron-variant, upstream-variant-2KB
rs10015538 -- 128,870,504(+) CACCT(C/G)CTAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JADE1 Gene

Variant ID Type Subtype PubMed ID
dgv5386n100 CNV gain 25217958
dgv9261n54 CNV gain 21841781
esv3575771 CNV gain 25503493
esv3602165 CNV gain 21293372
esv3602166 CNV gain 21293372
esv3602167 CNV gain 21293372
esv3602168 CNV gain 21293372
nsv1074750 CNV deletion 25765185
nsv4504 CNV deletion 18451855
nsv517249 CNV gain 19592680
nsv822717 CNV gain 20364138

Variation tolerance for JADE1 Gene

Residual Variation Intolerance Score: 9.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JADE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JADE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JADE1 Gene

Disorders for JADE1 Gene

Relevant External Links for JADE1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JADE1

No disorders were found for JADE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JADE1 Gene

Publications for JADE1 Gene

  1. The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1. (PMID: 12169691) Zhou M.I. … Cohen H.T. (J. Biol. Chem. 2002) 2 3 4 22 64
  2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  3. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate I^-catenin signaling. (PMID: 22654112) Borgal L. … Schermer B. (J. Biol. Chem. 2012) 3 4 64
  4. Role of Jade-1 in the histone acetyltransferase (HAT) HBO1 complex. (PMID: 18684714) Foy R.L. … Panchenko M.V. (J. Biol. Chem. 2008) 3 22 64
  5. Jade-1 inhibits Wnt signalling by ubiquitylating beta-catenin and mediates Wnt pathway inhibition by pVHL. (PMID: 18806787) Chitalia V.C. … Cohen H.T. (Nat. Cell Biol. 2008) 3 22 64

Products for JADE1 Gene

Sources for JADE1 Gene

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