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    KLHL22 kelch like family member 22 [ Homo sapiens (human) ]

    Gene ID: 84861, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLHL22provided by HGNC
    Official Full Name
    kelch like family member 22provided by HGNC
    Primary source
    HGNC:HGNC:25888
    See related
    Ensembl:ENSG00000099910 MIM:618020; AllianceGenome:HGNC:25888
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KELCHL
    Summary
    Enables 14-3-3 protein binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including cellular response to L-leucine; mitotic spindle assembly checkpoint signaling; and positive regulation of TORC1 signaling. Located in several cellular components, including intercellular bridge; lysosome; and microtubule cytoskeleton. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL22 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20441519..20495795, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20845791..20900118, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20795806..20850082, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1620 Neighboring gene RNA, U6 small nuclear 225, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20783264-20783430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20784487-20785326 Neighboring gene uncharacterized LOC107985588 Neighboring gene scavenger receptor class F member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20795983-20796484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20796485-20796984 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62725 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62734 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62743 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:20810551-20811052 Neighboring gene KLHL12 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20814017-20814215 Neighboring gene uncharacterized LOC124905085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18678 Neighboring gene RNA, 7SL, cytoplasmic 812, pseudogene Neighboring gene RNY1 pseudogene 9 Neighboring gene keratin 18 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13496 Neighboring gene uncharacterized LOC101928824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20850596-20851248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20859501-20860000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18680 Neighboring gene mediator complex subunit 15 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20884447-20885434 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20903520-20904510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18681 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62813 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18682 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62834 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62844 Neighboring gene uncharacterized LOC124905084

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLHL22 maintains PD-1 homeostasis and prevents excessive T cell suppression.
      Title: KLHL22 maintains PD-1 homeostasis and prevents excessive T cell suppression.
    2. KLHL22 promotes malignant melanoma growth in vitro and in vivo by activating the PI3K/Akt/mTOR signaling pathway.
      Title: KLHL22 promotes malignant melanoma growth in vitro and in vivo by activating the PI3K/Akt/mTOR signaling pathway.
    3. KLHL22 plays a conserved role to mediate the activation of mTORC1 and downstream events; depletion of KLHL22 in breast cancer cells suppresses tumour growth in nude mice; therefore, pharmacological interventions targeting KLHL22 may have therapeutic potential for the treatment of breast cancer and age-related diseases
      Title: KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing.
    4. CUL3/KLHL22 may contact two distinct motifs within PLK1 protein, consistent with the bivalent mode of substrate targeting.
      Title: CUL3 and protein kinases: insights from PLK1/KLHL22 interaction.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of retinopathy in individuals without diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to L-leucine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to amino acid stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic sister chromatid segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle assembly checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of T cell mediated immune response to tumor cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein monoubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in polar microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in polar microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch-like protein 22
    Names
    kelch-like 22

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032775.4 → NP_116164.2  kelch-like protein 22

      See identical proteins and their annotated locations for NP_116164.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      BC015923
      Consensus CDS
      CCDS13780.1
      UniProtKB/Swiss-Prot
      A8K3Q4, A8MTV3, B7Z2G1, D3DX30, Q53GT1, Q96B68, Q96KC6
      Related
      ENSP00000331682.4, ENST00000328879.9
      Conserved Domains (4) summary
      PHA03098
      Location:52 → 592
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:340 → 385
      Kelch; KELCH repeat [structural motif]
      cd18251
      Location:27 → 151
      BTB_POZ_KLHL22; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 22 (KLHL22)
      cd18461
      Location:147 → 250
      BACK_KLHL22; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 22 (KLHL22)

    RNA

    1. NR_033825.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007731, AK294682, BC015923

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20441519..20495795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029025.2 → XP_016884514.1  kelch-like protein 22 isoform X8

      Conserved Domains (6) summary
      smart00612
      Location:370 → 416
      Kelch; Kelch domain
      smart00875
      Location:76 → 179
      BACK; BTB And C-terminal Kelch
      PHA03098
      Location:1 → 515
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:263 → 308
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:1 → 66
      BTB; BTB/POZ domain
      pfam01344
      Location:313 → 356
      Kelch_1; Kelch motif

    2. XM_017029018.3 → XP_016884507.2  kelch-like protein 22 isoform X1

    3. XM_017029021.3 → XP_016884510.1  kelch-like protein 22 isoform X4

      UniProtKB/Swiss-Prot
      A8K3Q4, A8MTV3, B7Z2G1, D3DX30, Q53GT1, Q96B68, Q96KC6
      Conserved Domains (4) summary
      PHA03098
      Location:52 → 592
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:340 → 385
      Kelch; KELCH repeat [structural motif]
      cd18251
      Location:27 → 151
      BTB_POZ_KLHL22; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 22 (KLHL22)
      cd18461
      Location:147 → 250
      BACK_KLHL22; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 22 (KLHL22)

    4. XM_017029022.2 → XP_016884511.1  kelch-like protein 22 isoform X5

    5. XM_017029024.2 → XP_016884513.1  kelch-like protein 22 isoform X7

    6. XM_017029019.3 → XP_016884508.1  kelch-like protein 22 isoform X2

    7. XM_017029020.3 → XP_016884509.1  kelch-like protein 22 isoform X3

      Conserved Domains (4) summary
      PHA03098
      Location:84 → 624
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:372 → 417
      Kelch; KELCH repeat [structural motif]
      cd18461
      Location:179 → 282
      BACK_KLHL22; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 22 (KLHL22)
      cl38908
      Location:59 → 183
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    8. XM_017029023.2 → XP_016884512.1  kelch-like protein 22 isoform X6

    RNA

    1. XR_001755341.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      20845791..20900118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326056.1 → XP_054182031.1  kelch-like protein 22 isoform X8

    2. XM_054326057.1 → XP_054182032.1  kelch-like protein 22 isoform X1

    3. XM_054326052.1 → XP_054182027.1  kelch-like protein 22 isoform X4

      UniProtKB/Swiss-Prot
      A8K3Q4, A8MTV3, B7Z2G1, D3DX30, Q53GT1, Q96B68, Q96KC6

    4. XM_054326053.1 → XP_054182028.1  kelch-like protein 22 isoform X5

    5. XM_054326055.1 → XP_054182030.1  kelch-like protein 22 isoform X7

    6. XM_054326049.1 → XP_054182024.1  kelch-like protein 22 isoform X2

    7. XM_054326050.1 → XP_054182025.1  kelch-like protein 22 isoform X3

    8. XM_054326054.1 → XP_054182029.1  kelch-like protein 22 isoform X6

    9. XM_054326051.1 → XP_054182026.1  kelch-like protein 22 isoform X3

    RNA

    1. XR_008485415.1 RNA Sequence

    2. XR_008485414.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53GT1.2 GenPept UniProtKB/Swiss-Prot:Q53GT1

    Gene LinkOut

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