1. Gene
  2. JADE1 - jade family PHD finger 1 Gene

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

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
  • 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

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