1. Gene
  2. KLHL22 - kelch like family member 22 Gene

KLHL22 - kelch like family member 22 Gene

Homo sapiens

Also known as KELCHL

Gene ID: 84861 | Gene type: protein coding

About KLHL22

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,441,519-20,495,795 (from NCBI)

This gene has 12 transcripts (splice variants), 194 orthologues and 54 paralogues. Ubiquitous expression in brain (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues.

Summary

Enables 14-3-3 protein binding activity. Involved in several processes, including cellular protein metabolic process; cellular response to leucine; and mitotic spindle assembly checkpoint signaling. Located in several cellular components, including cytosol; intercellular bridge; and microtubule Cytoskeleton. Part of Cul3-RING ubiquitin Ligase complex. Colocalizes with lysosome and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

KLHL22 Products(1)

mRNA Protein Name
NM_032775.4 NP_116164.2 kelch-like protein 22
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 14-3-3 protein binding IPI
IPI: Inferred from physical interaction
29769719 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23455478 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: Inferred from direct assay
29769719 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell division IMP
IMP: Inferred from mutant phenotype
19995937 GOA
involved in cellular response to L-leucine IMP
IMP: Inferred from mutant phenotype
29769719 GOA
involved in cellular response to amino acid stimulus IDA
IDA: Inferred from direct assay
29769719 GOA
involved in mitotic sister chromatid segregation IMP
IMP: Inferred from mutant phenotype
23455478 GOA
involved in mitotic spindle assembly checkpoint signaling IMP
IMP: Inferred from mutant phenotype
23455478 GOA
involved in negative regulation of autophagy IMP
IMP: Inferred from mutant phenotype
29769719 GOA
involved in negative regulation of type I interferon production IDA
IDA: Inferred from direct assay
36394357 GOA
involved in positive regulation of T cell activation IDA
IDA: Inferred from direct assay
33109719 GOA
involved in positive regulation of T cell mediated immune response to tumor cell IDA
IDA: Inferred from direct assay
33109719 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: Inferred from direct assay
29769719 GOA
involved in positive regulation of TORC1 signaling IMP
IMP: Inferred from mutant phenotype
29769719 GOA
involved in positive regulation of cell growth IMP
IMP: Inferred from mutant phenotype
29769719 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
29769719 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
29769719 GOA
involved in protein monoubiquitination IDA
IDA: Inferred from direct assay
23455478 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
36394357 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Cul3-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
19995937 GOA
located in centrosome IDA
IDA: Inferred from direct assay
23455478 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
23455478 GOA
located in cytosol IDA
IDA: Inferred from direct assay
29769719 GOA
colocalizes with lysosome IDA
IDA: Inferred from direct assay
29769719 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
23455478 GOA
colocalizes with nucleus IDA
IDA: Inferred from direct assay
29769719 GOA
located in polar microtubule IDA
IDA: Inferred from direct assay
23455478 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

KLHL22 Protein Structure

BTB

BTB: BTB/POZ domain (42 - 143)

BACK

BACK: BTB And C-terminal Kelch (153 - 256)

Kelch_6

Kelch_6: Kelch motif (341 - 385)

Kelch_1

Kelch_1: Kelch motif (393 - 432)

Kelch_3

Kelch_3: Galactose oxidase, central domain (446 - 490)

Kelch_1

Kelch_1: Kelch motif (538 - 578)

  • 0
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  • 400
  • 500
  • 634 a.a.
Protein Preferred Names Protein Names

kelch-like protein 22

kelch-like 22

KLHL22 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
KLHL22 Q53GT1 TARDBP Homo sapiens Q13148
Anti Tag CoIP
37788672
Intra
KLHL22 Q53GT1 NUDCD3 Homo sapiens Q8IVD9
Anti Tag CoIP
33961781
Intra
KLHL22 Q53GT1 NUDCD3 Homo sapiens Q8IVD9
Anti Tag CoIP
28514442
Intra
KLHL22 Q53GT1 NUDCD3 Homo sapiens Q8IVD9
Lumier
25036637
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mixed Fibrolamellar Hepatocellular Carcinoma
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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
Rattus norvegicus KLHL22 RGD RGD:1306288
Bos taurus KLHL22 VGNC VGNC:30651
Felis catus KLHL22 VGNC VGNC:82548
Mus musculus KLHL22 MGD MGI:1337995
Canis familiaris KLHL22 VGNC VGNC:42457