1. Gene
  2. PHF23 - PHD finger protein 23 Gene

PHF23 - PHD finger protein 23 Gene

中文名称:PHD 指蛋白 23

种属: Homo sapiens

同用名: hJUNE-1b

基因 ID: 79142 | 基因类型: protein coding

关于 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.

功能概要

预测可启用金属离子结合活性。参与自噬体组装的负调控;自噬体成熟的负调控;和蛋白质泛素化的正调控。位于核质中。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25484098 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of autophagosome assembly IMP
IMP: 通过突变表型推断
25484098 GOA
involved in negative regulation of autophagosome maturation IMP
IMP: 通过突变表型推断
25484098 GOA
involved in positive regulation of protein ubiquitination IMP
IMP: 通过突变表型推断
25484098 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PHF23 蛋白结构

PHD

PHD: PHD-finger (342 - 386)

  • 0
  • 100
  • 200
  • 300
  • 403 a.a.
蛋白主名 其他名称

PHD finger protein 23

PDH-containing protein JUNE-1

PHF23 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra PHF23 Q9BUL5 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra PHF23 Q9BUL5 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra PHF23 Q9BUL5 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra PHF23 Q9BUL5 HRAS Homo sapiens P01112
Validated Y2H
32814053
Intra PHF23 Q9BUL5 HRAS Homo sapiens P01112
Y2H Array
32814053
Intra PHF23 Q9BUL5 HRAS Homo sapiens P01112
Y2H Pooling
32814053
Intra PHF23 Q9BUL5 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra PHF23 Q9BUL5 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra PHF23 Q9BUL5 GSN Homo sapiens P06396
Y2H Array
32814053
Intra PHF23 Q9BUL5 CYCS Homo sapiens P99999
Y2H Array
32814053
Intra PHF23 Q9BUL5 CYCS Homo sapiens P99999
Validated Y2H
32814053
Intra PHF23 Q9BUL5 CYCS Homo sapiens P99999
Y2H Pooling
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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