1. Gene
  2. ANKZF1 - ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Gene

ANKZF1 - ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Gene

中文名称:锚蛋白重复序列和锌指肽基 tRNA 水解酶 1

种属: Homo sapiens

同用名: Vms1; ZNF744

基因 ID: 55139 | 基因类型: protein coding

关于 ANKZF1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,229,806-219,236,679 (from NCBI)

This gene has 26 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in lymph node (RPKM 19.0), spleen (RPKM 18.7) and 25 other tissues.

功能概要

预测可启用金属离子结合活性。参与细胞对过氧化氢的反应。位于细胞质中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable metal ion binding activity. Involved in cellular response to hydrogen peroxide. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ANKZF1 基因产物(3)

mRNA Protein Name
NM_001042410.2 NP_001035869.1 ankyrin repeat and zinc finger domain-containing protein 1 isoform 1
NM_001282792.2 NP_001269721.1 ankyrin repeat and zinc finger domain-containing protein 1 isoform 2
NM_018089.3 NP_060559.2 ankyrin repeat and zinc finger domain-containing protein 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA endonuclease activity IDA
IDA: 通过直接分析推断
30244831 GOA
enables catalytic activity, acting on a tRNA IDA
IDA: 通过直接分析推断
30244831 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22190034 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to hydrogen peroxide IMP
IMP: 通过突变表型推断
28302725 GOA
involved in protein quality control for misfolded or incompletely synthesized proteins IDA
IDA: 通过直接分析推断
29632312 GOA
involved in rescue of stalled ribosome IDA
IDA: 通过直接分析推断
29632312 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
28302725 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

ANKZF1 蛋白结构

Ank

Ank: Ankyrin repeat (535 - 565)

  • 0
  • 200
  • 400
  • 600
  • 726 a.a.
蛋白主名 其他名称

ankyrin repeat and zinc finger domain-containing protein 1

ankyrin repeat and zinc finger domain containing 1

关联疾病

疾病名称 别名
Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

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

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Macaca mulatta ANKZF1 VGNC VGNC:69697
Rattus norvegicus ANKZF1 RGD RGD:1359242
Felis catus ANKZF1 VGNC VGNC:59825
Mus musculus ANKZF1 MGD MGI:1098746
Canis familiaris ANKZF1 VGNC VGNC:37921
Bos taurus ANKZF1 VGNC VGNC:25949