JADE1 - jade family PHD finger 1 Gene

Homo sapiens

Also known as PHF17

Gene ID: 79960 | Gene type: protein coding

About JADE1

Cytogenetic location: 4q28.2 Genomic coordinates (GRCh38): 4:128,809,700-128,875,224 (from NCBI)

This gene has 14 transcripts (splice variants), 203 orthologues and 8 paralogues. Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues.

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]

JADE1 Products(8)

mRNA	Protein	Name
NM_001287437.2	NP_001274366.1	protein Jade-1 isoform 3
NM_001287439.2	NP_001274368.1	protein Jade-1 isoform 1
NM_001287440.2	NP_001274369.1	protein Jade-1 isoform 1
NM_001287441.2	NP_001274370.1	protein Jade-1 isoform 2
NM_001287442.1	NP_001274371.1	protein Jade-1 isoform 1
NM_001287443.1	NP_001274372.1	protein Jade-1 isoform 1
NM_024900.5	NP_079176.2	protein Jade-1 isoform 2
NM_199320.4	NP_955352.1	protein Jade-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to histone H3K14 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
contributes to histone H4K12 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
NOT contributes to histone H4K16 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
contributes to histone H4K5 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
contributes to histone H4K8 acetyltransferase activity	IDA IDA: Inferred from direct assay	16387653	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12169691	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	23001567	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	23001567	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	22654112	GOA
involved in regulation of DNA biosynthetic process	IDA IDA: Inferred from direct assay	16387653	GOA
involved in regulation of DNA replication	IDA IDA: Inferred from direct assay	16387653	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	22144582	GOA
involved in regulation of cell cycle	IDA IDA: Inferred from direct assay	16387653	GOA
involved in regulation of cell growth	IDA IDA: Inferred from direct assay	22144582	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	22654112	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12169691	GOA
located in cytosol	IDA IDA: Inferred from direct assay	24739512	GOA
part of histone acetyltransferase complex	IDA IDA: Inferred from direct assay	16387653	GOA
part of histone acetyltransferase complex	IPI IPI: Inferred from physical interaction	16387653	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	12169691	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16387653	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12169691	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23001567	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JADE1 Protein Structure

EPL1

PHD_2

zf-HC5HC2H_2

0
200
400
600
842 a.a.

Protein Preferred Names

Protein Names

protein Jade-1

PHD finger protein 17

Related Diseases

Diseases

Alias

Atrophy Of Testis

Atrophic Testicle	Atrophy Of Testicle
Testicular Atrophy

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2	Hsan2
HSAN2A	Morvan Disease
Hereditary Sensory And Autonomic Neuropathy Type Ii	Neurogenic Acroosteolysis
Hsan Iia	Hsn2a
Hsn Iia	Neuropathy, Progressive Sensory, Of Children
Neuropathy, Congenital Sensory	Neuropathy, Hereditary Sensory And Autonomic, Type Ii
Hereditary Sensory And Autonomic Neuropathy Type 2a	Hereditary Sensory And Autonomic Neuropathy Type Iia
Hsanii	Congenital Sensory Neuropathy
Hsan Type Ii	Morvan Syndrome
Neuropathy, Hereditary Sensory And Autonomic, Type 2a	Morvan'S Disease
Neuropathy, Hereditary Sensory, Type Iia	Acroosteolysis, Neurogenic
Acroosteolysis, Giaccai Type	Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
Hereditary Sensory Autonomic Neuropathy Type 2	Giaccai Type Acroosteolysis
Hereditary Sensory Neuropathy Type 2	Hereditary Sensory Radicular Neuropathy, Recessive Form
Hsan2b	Hsan2c
Hsan2d	Hsn Type Ii
Autosomal Recessive Sensory Radicular Neuropathy	Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
Morvan Fibrillary Chorea	Neuropathy, Hereditary Sensory And Autonomic, 2a
Acroosteolysis Giaccai Type	Hereditary Sensory Neuropathy Type Iia
Hereditary Sensory Radicular Neuropathy Autosomal Recessive	Progressive Sensory Neuropathy Of Children
Neuropathy Congenital Sensory	Charcot-Marie-Tooth Disease
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia	Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii	Sensory Neuropathy, Hereditary
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07009	JADE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	JADE1	VGNC	VGNC:30358
Macaca mulatta	JADE1	VGNC	VGNC:73687
Rattus norvegicus	JADE1	RGD	RGD:1306920
Felis catus	JADE1	VGNC	VGNC:62995
Mus musculus	JADE1	MGD	MGI:1925835
Canis familiaris	JADE1	VGNC	VGNC:42169

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