PHF23 - PHD finger protein 23 Gene

Also Known as hJUNE-1b

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79142

About PHF23

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,235,038-7,240,828 (from NCBI)

This gene has 13 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in esophagus (RPKM 12.0), testis (RPKM 11.9) and 25 other tissues.

Summary

Predicted to enable metal ion binding activity. Involved in negative regulation of autophagosome assembly; negative regulation of autophagosome maturation; and positive regulation of protein ubiquitination. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

PHF23 Products (3)

mRNA Protein Name
NM_001284517.2 NP_001271446.1 PHD finger protein 23 isoform 2
NM_001284518.2 NP_001271447.1 PHD finger protein 23 isoform 3
NM_024297.3 NP_077273.2 PHD finger protein 23 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25484098 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of autophagosome assembly IMP
IMP: Inferred from mutant phenotype
25484098 GOA
involved in negative regulation of autophagosome maturation IMP
IMP: Inferred from mutant phenotype
25484098 GOA
involved in positive regulation of protein ubiquitination IMP
IMP: Inferred from mutant phenotype
25484098 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

PHF23 Protein Structure

PHD

PHD: PHD-finger (342 - 386)

  • 0
  • 100
  • 200
  • 300
  • 403 a.a.
Protein Preferred Names Protein Names

PHD finger protein 23

  • PDH-containing protein JUNE-1

PHF23 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PHF23 Q9BUL5 FGFR3 Homo sapiens P22607 32814053
Intra
PHF23 Q9BUL5 FGFR3 Homo sapiens P22607 32814053
Intra
PHF23 Q9BUL5 FGFR3 Homo sapiens P22607 32814053
Intra
PHF23 Q9BUL5 HRAS Homo sapiens P01112 32814053
Intra
PHF23 Q9BUL5 HRAS Homo sapiens P01112 32814053
Intra
PHF23 Q9BUL5 HRAS Homo sapiens P01112 32814053
Intra
PHF23 Q9BUL5 GSN Homo sapiens P06396 32814053
Intra
PHF23 Q9BUL5 GSN Homo sapiens P06396 32814053
Intra
PHF23 Q9BUL5 GSN Homo sapiens P06396 32814053
Intra
PHF23 Q9BUL5 CYCS Homo sapiens P99999 32814053
Intra
PHF23 Q9BUL5 CYCS Homo sapiens P99999 32814053
Intra
PHF23 Q9BUL5 CYCS Homo sapiens P99999 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myasthenic Syndrome, Congenital, 5
  • Endplate Acetylcholinesterase Deficiency

  • Congenital Myasthenic Syndrome 5

  • CMS5

  • Ead

  • Engel Congenital Myasthenic Syndrome

  • Myasthenic Syndrome, Congenital, Engel Type

  • Cms Ic

  • Congenital Myasthenic Syndrome Type Ic

  • Congenital Myasthenic Syndrome Type Ic, Formerly

  • Cms1c, Formerly

  • Cms Ic, Formerly

  • Congenital Myasthenic Syndrome Engel Type

  • End Plate Acetylcholinesterase Deficiency

  • Synaptic Congenital Myasthenic Syndromes

  • Cms1c

  • Cmse

  • Congenital Myasthenic Syndrome Type 1c

  • End-Plate Acetylcholinesterase Deficiency

  • Myasthenic Syndrome, Congenital, Type 5

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

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
Mus musculus PHF23 MGD MGI:1925496
Macaca mulatta PHF23 VGNC VGNC:75877
Bos taurus PHF23 VGNC VGNC:32823
Canis familiaris PHF23 VGNC VGNC:44488
Rattus norvegicus PHF23 RGD RGD:1302969
Felis catus PHF23 VGNC VGNC:64144
Others PHF23 NCBI