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

    Gene ID: 79960, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:30027
    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
    Summary
    Enables transcription coactivator activity. Contributes to histone acetyltransferase activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; regulation of cell growth; and regulation of nucleobase-containing compound metabolic process. Acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle. Located in several cellular components, including cytosol; microtubule organizing center; and nuclear speck. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See JADE1 in Genome Data Viewer
    Location:
    4q28.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (128809700..128875224)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (132113886..132179423)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (129730855..129796379)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3140 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129535873-129536374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129536375-129536874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:129560764-129561264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129565349-129565848 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:129569028-129569766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129573717-129574216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21893 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:129603876-129604400 Neighboring gene Sharpr-MPRA regulatory region 780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129605286-129606025 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:129606954-129608153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129613233-129613734 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74071 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129654815-129655316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:129655317-129655816 Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG hESC enhancer GRCh37_chr4:129697052-129697573 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:129723780-129724699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:129734111-129734692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:129734693-129735274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21898 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:129752609-129753288 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:129753289-129753968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:129756920-129757462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21901 Neighboring gene sodium channel and clathrin linker 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21902 Neighboring gene chromosome 4 open reading frame 33 Neighboring gene CDRT15 pseudogene 11

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22479, KIAA1807

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of histone acetyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001287437.2NP_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/TrEMBL
      B4E2E2
      Related
      ENSP00000388015.2, ENST00000452328.6
      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_001287439.2NP_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, DC308588
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
      Related
      ENSP00000425730.1, ENST00000512960.5
      Conserved Domains (2) summary
      COG5141
      Location:99529
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
    3. NM_001287440.2NP_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
      Consensus CDS
      CCDS34062.1
      UniProtKB/Swiss-Prot
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
      Conserved Domains (2) summary
      COG5141
      Location:99529
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
    4. NM_001287441.2NP_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, ENST00000413543.6
      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
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
      Related
      ENSP00000483219.1, ENST00000610919.4
      Conserved Domains (2) summary
      COG5141
      Location:99529
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
    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
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
      Related
      ENSP00000482212.1, ENST00000611140.4
      Conserved Domains (2) summary
      COG5141
      Location:99529
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
    7. NM_024900.5NP_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, ENST00000511647.5
      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_199320.4NP_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
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
      Related
      ENSP00000226319.6, ENST00000226319.11
      Conserved Domains (2) summary
      COG5141
      Location:99529
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      128809700..128875224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008626.3XP_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_024454219.2XP_024309987.1  protein Jade-1 isoform X3

      UniProtKB/TrEMBL
      B4E2E2
      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_017008627.2XP_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
    4. XM_024454217.2XP_024309985.1  protein Jade-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
      Conserved Domains (2) summary
      COG5141
      Location:99529
      COG5141; PHD zinc finger-containing protein [General function prediction only]
      cd15671
      Location:258368
      ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
    5. XM_024454221.2XP_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
    6. XM_024454218.2XP_024309986.1  protein Jade-1 isoform X2

      UniProtKB/TrEMBL
      B4E2E2
      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
    7. XM_047416183.1XP_047272139.1  protein Jade-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      132113886..132179423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350862.1XP_054206837.1  protein Jade-1 isoform X4

    2. XM_054350859.1XP_054206834.1  protein Jade-1 isoform X3

      UniProtKB/TrEMBL
      B4E2E2
    3. XM_054350863.1XP_054206838.1  protein Jade-1 isoform X4

    4. XM_054350857.1XP_054206832.1  protein Jade-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2
    5. XM_054350861.1XP_054206836.1  protein Jade-1 isoform X4

    6. XM_054350858.1XP_054206833.1  protein Jade-1 isoform X2

      UniProtKB/TrEMBL
      B4E2E2
    7. XM_054350860.1XP_054206835.1  protein Jade-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692
      UniProtKB/TrEMBL
      B4E2E2