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

Gene ID: 84861, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in brain (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See KLHL22 in Genome Data Viewer
Location:
22q11.21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (20441519..20497305, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20795806..20850170, 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 uncharacterized LOC107985588 Neighboring gene scavenger receptor class F member 2 Neighboring gene kelch like family member 12 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 812, pseudogene Neighboring gene RNY1 pseudogene 9 Neighboring gene keratin 18 pseudogene 5 Neighboring gene uncharacterized LOC101928824 Neighboring gene mediator complex subunit 15 Neighboring gene coiled-coil domain containing 74B pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to leucine IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic sister chromatid segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic spindle assembly checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
colocalizes_with lysosome IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nucleus IDA
Inferred from Direct Assay
more info
PubMed 
polar microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
polar microtubule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_032775.4NP_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
    Q53GT1
    Related
    ENSP00000331682.4, ENST00000328879.9
    Conserved Domains (2) summary
    sd00038
    Location:340385
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:52592
    BTB; Broad-Complex, Tramtrack and Bric a brac

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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    20441519..20497305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029018.2XP_016884507.1  kelch-like protein 22 isoform X1

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

    Conserved Domains (6) summary
    smart00612
    Location:370416
    Kelch; Kelch domain
    smart00875
    Location:76179
    BACK; BTB And C-terminal Kelch
    PHA03098
    Location:1515
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:263308
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:166
    BTB; BTB/POZ domain
    pfam01344
    Location:313356
    Kelch_1; Kelch motif
  3. XM_017029021.2XP_016884510.1  kelch-like protein 22 isoform X4

    UniProtKB/Swiss-Prot
    Q53GT1
    Conserved Domains (2) summary
    sd00038
    Location:340385
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:52592
    BTB; Broad-Complex, Tramtrack and Bric a brac
  4. XM_017029022.1XP_016884511.1  kelch-like protein 22 isoform X5

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

  6. XM_017029019.2XP_016884508.1  kelch-like protein 22 isoform X2

  7. XM_017029023.1XP_016884512.1  kelch-like protein 22 isoform X6

  8. XM_017029020.2XP_016884509.1  kelch-like protein 22 isoform X3

RNA

  1. XR_001755341.2 RNA Sequence

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