JADE1 - jade family PHD finger 1 Gene

Also Known as PHF17

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79960

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

EPL1: Enhancer of polycomb-like (39 - 180)

PHD_2

PHD_2: PHD-finger (218 - 251)

zf-HC5HC2H_2

zf-HC5HC2H_2: PHD-zinc-finger like domain (257 - 368)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 842 a.a.
Protein Preferred Names Protein Names

protein Jade-1

  • PHD finger protein 17

JADE1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
JADE1 Q6IE81 YJU2 Homo sapiens Q9BW85 25416956
Intra
JADE1 Q6IE81 YJU2 Homo sapiens Q9BW85 25416956
Intra
JADE1 Q6IE81 NPHP4 Homo sapiens O75161
IF
22654112
Intra
JADE1 Q6IE81 NPHP4 Homo sapiens O75161 22654112
Intra
JADE1 Q6IE81 KAT7 Homo sapiens O95251
TAP
24981860
Intra
JADE1 Q6IE81 KAT7 Homo sapiens O95251 33961781
Intra
JADE1 Q6IE81 KAT7 Homo sapiens O95251 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others JADE1 NCBI