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

Also Known as Vms1; ZNF744

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55139

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables RNA endonuclease activity IDA
IDA: Inferred from direct assay
30244831 GOA
enables catalytic activity, acting on a tRNA IDA
IDA: Inferred from direct assay
30244831 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22190034 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to hydrogen peroxide IMP
IMP: Inferred from mutant phenotype
28302725 GOA
involved in protein quality control for misfolded or incompletely synthesized proteins IDA
IDA: Inferred from direct assay
29632312 GOA
involved in rescue of stalled ribosome IDA
IDA: Inferred from direct assay
29632312 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
28302725 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

ANKZF1 Protein Structure

Ank

Ank: Ankyrin repeat (535 - 565)

  • 0
  • 200
  • 400
  • 600
  • 726 a.a.
Protein Preferred Names Protein Names

ankyrin repeat and zinc finger domain-containing protein 1

  • ankyrin repeat and zinc finger domain containing 1

ANKZF1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89633 ANKZF1 Antibody (YA8977) WB, ICC/IF, IF-Tissue, IP, ELISA human

Related Diseases

Diseases Alias
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

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
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