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

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, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MicroRNA-155-5p Targets JADE-1, Promoting Proliferation, Migration, and Invasion in Clear Cell Renal Cell Carcinoma Cells.
Title: MicroRNA-155-5p Targets JADE-1, Promoting Proliferation, Migration, and Invasion in Clear Cell Renal Cell Carcinoma Cells.
Genome-wide association study and functional validation implicates JADE1 in tauopathy.
Title: Genome-wide association study and functional validation implicates JADE1 in tauopathy.
results indicate that the N-terminal region of JADE1 functions as a platform that brings together the catalytic HBO1 subunit with its cognate H3-H4 substrate for histone acetylation
Title: The scaffolding protein JADE1 physically links the acetyltransferase subunit HBO1 with its histone H3-H4 substrate.
identification of SNPs within the IQCJ, NXPH1, PHF17 and MYB genes partly explaining the large interindividual variability observed in plasma triglyceride levels in response to an n-3 fatty acid supplementation
Title: Novel Genetic Loci Associated with the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation.
A genome-wide association study (GWAS) identified loci associated with the plasma triglyceride (TG) response to omega-3 fatty acid (FA) supplementation in IQCJ, NXPH1, PHF17 and MYB.
Title: Plasma Triglyceride Levels May Be Modulated by Gene Expression of IQCJ, NXPH1, PHF17 and MYB in Humans.
JADE1 expression has a role in colon cancers, renal carcinomas, and in acute kidney injuries and regeneration. (Review)
Title: Structure, function and regulation of jade family PHD finger 1 (JADE1).
Interactome analyses revealed that the Jade-1S mutant unable to be phosphorylated by CK1alpha has an increased binding affinity to proteins involved in chromatin remodelling, histone deacetylation, transcriptional repression, and ribosome biogenesis.
Title: Jade-1S phosphorylation induced by CK1α contributes to cell cycle progression.
JADE1S protein localized to centrosomes in interphase and mitotic cells, and to the midbody during cytokinesis.
Title: The novel function of JADE1S in cytokinesis of epithelial cells.
Casein kinase 1 alpha specifically phosphorylates Jade-1 at an unprimed SLS phosphorylation site.
Title: Casein kinase 1 α phosphorylates the Wnt regulator Jade-1 and modulates its activity.
Increase in the number of cells with cytoplasmic JADE1S correlated with activation of tubular cell proliferation and inversely correlated with the number of cells with nuclear JADE1S, supporting role of HBO1-JADE1 shuttling during organ regeneration.
Title: Cell cycle-dependent chromatin shuttling of HBO1-JADE1 histone acetyl transferase (HAT) complex.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93632 (e-PCR)
- UniSTS:83757

SHGC-67603 (e-PCR)
- UniSTS:18511

D4S871 (e-PCR)
- UniSTS:45397

G34049 (e-PCR)
- UniSTS:82008

SHGC-24754 (e-PCR)
- UniSTS:59600

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to histone H3K14 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to histone H4K12 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
NOT contributes_to histone H4K16 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to histone H4K5 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to histone H4K8 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

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

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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)

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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)

NM_001287437.2 → NP_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:246 → 356

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins

cl26518
Location:88 → 517

EPL1; Enhancer of polycomb-like
NM_001287439.2 → NP_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:99 → 529

COG5141; PHD zinc finger-containing protein [General function prediction only]

cd15671
Location:258 → 368

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
NM_001287440.2 → NP_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:99 → 529

COG5141; PHD zinc finger-containing protein [General function prediction only]

cd15671
Location:258 → 368

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
NM_001287441.2 → NP_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:255 → 372

ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins

cl26518
Location:99 → 503

EPL1; Enhancer of polycomb-like
NM_001287442.1 → NP_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:99 → 529

COG5141; PHD zinc finger-containing protein [General function prediction only]

cd15671
Location:258 → 368

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
NM_001287443.1 → NP_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:99 → 529

COG5141; PHD zinc finger-containing protein [General function prediction only]

cd15671
Location:258 → 368

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
NM_024900.5 → NP_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:255 → 372

ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins

cl26518
Location:99 → 503

EPL1; Enhancer of polycomb-like
NM_199320.4 → NP_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:99 → 529

COG5141; PHD zinc finger-containing protein [General function prediction only]

cd15671
Location:258 → 368

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

128809700..128875224

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008626.3 → XP_016864115.1 protein Jade-1 isoform X4

Conserved Domains (2) summary

cd15704
Location:255 → 372

ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins

cl26518
Location:99 → 502

EPL1; Enhancer of polycomb-like
XM_024454219.2 → XP_024309987.1 protein Jade-1 isoform X3

UniProtKB/TrEMBL

B4E2E2

Conserved Domains (2) summary

cd15671
Location:271 → 381

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins

cl26518
Location:112 → 542

EPL1; Enhancer of polycomb-like
XM_017008627.2 → XP_016864116.1 protein Jade-1 isoform X4

Conserved Domains (2) summary

cd15704
Location:255 → 372

ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins

cl26518
Location:99 → 502

EPL1; Enhancer of polycomb-like
XM_024454217.2 → XP_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:99 → 529

COG5141; PHD zinc finger-containing protein [General function prediction only]

cd15671
Location:258 → 368

ePHD_JADE; Extended PHD finger found in protein Jade-1, Jade-2, Jade-3 and similar proteins
XM_024454221.2 → XP_024309989.1 protein Jade-1 isoform X4

Conserved Domains (2) summary

cd15704
Location:255 → 372

ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins

cl26518
Location:99 → 502

EPL1; Enhancer of polycomb-like
XM_024454218.2 → XP_024309986.1 protein Jade-1 isoform X2

UniProtKB/TrEMBL

B4E2E2

Conserved Domains (2) summary

cd15704
Location:270 → 387

ePHD_JADE1; Extended PHD finger found in protein Jade-1 and similar proteins

cl26518
Location:114 → 544

EPL1; Enhancer of polycomb-like
XM_047416183.1 → XP_047272139.1 protein Jade-1 isoform X1

UniProtKB/Swiss-Prot

D3DNY0, D3DNY1, Q4W5D5, Q6IE81, Q6ZSL7, Q8NC41, Q96JL8, Q96SQ1, Q9H692