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    JADE1 jade family PHD finger 1 [ Homo sapiens (human) ]

    Gene ID: 79960, updated on 8-Apr-2018
    Official Symbol
    JADE1provided by HGNC
    Official Full Name
    jade family PHD finger 1provided by HGNC
    Primary source
    HGNC:HGNC:30027
    See related
    Ensembl:ENSG00000077684 MIM:610514; Vega:OTTHUMG00000161176
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHF17
    Expression
    Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more
    Orthologs
    Location:
    4q28.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (128809623..128875224)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (129730779..129796379)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507487 Neighboring gene NFE2L2 motif-containing MPRA enhancer 199 Neighboring gene uncharacterized LOC101927259 Neighboring gene sodium channel and clathrin linker 1 Neighboring gene chromosome 2 open reading frame 27B pseudogene Neighboring gene chromosome 4 open reading frame 33

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • HATs acetylate histones, organism-specific biosystem (from REACTOME)
      HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22479, KIAA1807

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    histone H3 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H4-K12 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT histone H4-K16 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H4-K5 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H4-K8 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    protein Jade-1
    Names
    PHD finger protein 17
    PHD protein Jade-1
    gene for apoptosis and differentiation in epithelia
    jade family PHD finger protein 1

    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_001287437.1NP_001274366.1  protein Jade-1 isoform 3

      See identical proteins and their annotated locations for NP_001274366.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC093783, AK027620, AK127326, BI463062
      Consensus CDS
      CCDS75191.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Related
      ENSP00000388015.2, OTTHUMP00000219935, ENST00000452328.6, OTTHUMT00000364279
      Conserved Domains (2) summary
      cd15671
      Location:246356
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:88517
      EPL1; Enhancer of polycomb-like
    2. NM_001287439.1NP_001274368.1  protein Jade-1 isoform 1

      See identical proteins and their annotated locations for NP_001274368.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 7, and 8 encode the same isoform (1).
      Source sequence(s)
      AC093783, AK304235, BN000287, DC308420, DC308588
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      Q6IE81
      UniProtKB/TrEMBL
      B4E2E2
      Related
      ENSP00000425730.1, OTTHUMP00000219936, ENST00000512960.5, OTTHUMT00000364280
      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
    3. NM_001287440.1NP_001274369.1  protein Jade-1 isoform 1

      See identical proteins and their annotated locations for NP_001274369.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 7, and 8 encode the same isoform (1).
      Source sequence(s)
      AC093783, BN000287, DA478923, DC308420
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
    4. NM_001287441.1NP_001274370.1  protein Jade-1 isoform 2

      See identical proteins and their annotated locations for NP_001274370.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks two exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Variants 2 and 6 encode the same isoform.
      Source sequence(s)
      AF520952, AK074986, BC032376, BX107708, DA714593
      Consensus CDS
      CCDS47134.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Related
      ENSP00000404211.2, OTTHUMP00000219842, ENST00000413543.6, OTTHUMT00000364056
      Conserved Domains (2) summary
      cd15704
      Location:255372
      ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins
      cl26518
      Location:99503
      EPL1; Enhancer of polycomb-like
    5. NM_001287442.1NP_001274371.1  protein Jade-1 isoform 1

      See identical proteins and their annotated locations for NP_001274371.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 7, and 8 encode the same isoform (1).
      Source sequence(s)
      AC093783, BN000287, DA714593, DB293142
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Related
      ENSP00000483219.1, ENST00000610919.4
      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
    6. NM_001287443.1NP_001274372.1  protein Jade-1 isoform 1

      See identical proteins and their annotated locations for NP_001274372.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1. Variants 1, 4, 5, 7, and 8 encode the same isoform (1).
      Source sequence(s)
      AC093783, AC108024, BN000287, DB085413
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Related
      ENSP00000482212.1, ENST00000611140.4
      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
    7. NM_024900.4NP_079176.2  protein Jade-1 isoform 2

      See identical proteins and their annotated locations for NP_079176.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Variants 2 and 6 encode the same isoform.
      Source sequence(s)
      AF520952, AK027620, AK074986, BI463062, BX107708
      Consensus CDS
      CCDS47134.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Related
      ENSP00000423737.1, OTTHUMP00000219934, ENST00000511647.5, OTTHUMT00000364278
      Conserved Domains (2) summary
      cd15704
      Location:255372
      ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins
      cl26518
      Location:99503
      EPL1; Enhancer of polycomb-like
    8. NM_199320.3NP_955352.1  protein Jade-1 isoform 1

      See identical proteins and their annotated locations for NP_955352.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 4, 5, 7, and 8 encode the same isoform.
      Source sequence(s)
      AC093783, AK027620, BI463062, BN000287
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      Q6IE81
      Related
      ENSP00000226319.6, ENST00000226319.10
      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      128809623..128875224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008626.2XP_016864115.1  protein Jade-1 isoform X4

      Conserved Domains (2) summary
      cd15704
      Location:255372
      ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins
      cl26518
      Location:99502
      EPL1; Enhancer of polycomb-like
    2. XM_024454219.1XP_024309987.1  protein Jade-1 isoform X3

      Conserved Domains (2) summary
      cd15671
      Location:271381
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:112542
      EPL1; Enhancer of polycomb-like
    3. XM_005263232.2XP_005263289.1  protein Jade-1 isoform X1

      See identical proteins and their annotated locations for XP_005263289.1

      UniProtKB/Swiss-Prot
      Q6IE81
      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
    4. XM_017008627.1XP_016864116.1  protein Jade-1 isoform X4

      Conserved Domains (2) summary
      cd15704
      Location:255372
      ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins
      cl26518
      Location:99502
      EPL1; Enhancer of polycomb-like
    5. XM_024454217.1XP_024309985.1  protein Jade-1 isoform X1

      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
    6. XM_024454221.1XP_024309989.1  protein Jade-1 isoform X4

      Conserved Domains (2) summary
      cd15704
      Location:255372
      ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins
      cl26518
      Location:99502
      EPL1; Enhancer of polycomb-like
    7. XM_024454218.1XP_024309986.1  protein Jade-1 isoform X2

      Conserved Domains (2) summary
      cd15704
      Location:270387
      ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins
      cl26518
      Location:114544
      EPL1; Enhancer of polycomb-like
    8. XM_024454220.1XP_024309988.1  protein Jade-1 isoform X1

      Conserved Domains (2) summary
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
      cl26518
      Location:99529
      EPL1; Enhancer of polycomb-like
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