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

Gene ID: 79960, updated on 3-Apr-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. Involved in histone acetylation and negative regulation of canonical Wnt signaling pathway. Acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle. Located in several cellular components, including ciliary basal body; cytosol; and nuclear speck. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

Location:
4q28.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (128809700..128875224)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (132113886..132179423)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (129730855..129796379)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900778 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: 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 Apr 4 07:08:55 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 
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_2023_10

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

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

  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
  5. XM_054350861.1XP_054206836.1  protein Jade-1 isoform X4

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

  7. XM_054350860.1XP_054206835.1  protein Jade-1 isoform X1

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