Human Gene KLHL22 (uc002zsl.2) Description and Page Index
  Description: Homo sapiens kelch-like family member 22 (KLHL22), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr22:20,795,806-20,850,170 Size: 54,365 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr22:20,796,360-20,843,498 Size: 47,139 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:20,795,806-20,850,170)mRNA (may differ from genome)Protein (634 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Kelch-like protein 22;
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for cell division. BCR E3 ubiquitin ligase complexes mediate the ubiquitination of target proteins.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Component of the BCR(KLHL22) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL22 and RBX1.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 6 Kelch repeats.
SEQUENCE CAUTION: Sequence=BAB55007.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KLHL22
CDC HuGE Published Literature: KLHL22
Positive Disease Associations: Breath Tests
Related Studies:
  1. Breath Tests
    , , . [PubMed 0]
  2. Breath Tests
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.62 RPKM in Brain - Cerebellum
Total median expression: 329.35 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.90157-0.432 Picture PostScript Text
3' UTR -249.60554-0.451 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011705 - BACK
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR017096 - Kelch-like_gigaxonin
IPR015915 - Kelch-typ_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07646 - Kelch motif
PF07707 - BTB And C-terminal Kelch
PF13415 - Galactose oxidase, central domain
PF13964 - Kelch motif

SCOP Domains:
101898 - NHL repeat
50965 - Galactose oxidase, central domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on Q53GT1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0000070 mitotic sister chromatid segregation
GO:0006513 protein monoubiquitination
GO:0007049 cell cycle
GO:0007094 mitotic spindle assembly checkpoint
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification
GO:0051301 cell division

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005827 polar microtubule
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0072686 mitotic spindle

-  Descriptions from all associated GenBank mRNAs
  BC015923 - Homo sapiens kelch-like 22 (Drosophila), mRNA (cDNA clone MGC:20518 IMAGE:4562420), complete cds.
LF385109 - JP 2014500723-A/192612: Polycomb-Associated Non-Coding RNAs.
AK027266 - Homo sapiens cDNA FLJ14360 fis, clone HEMBA1000488, weakly similar to RING CANAL PROTEIN.
AK294682 - Homo sapiens cDNA FLJ53985 complete cds, highly similar to Kelch-like protein 22.
AK290669 - Homo sapiens cDNA FLJ76266 complete cds, highly similar to Homo sapiens kelch-like 22 (Drosophila) (KLHL22), mRNA.
AK222850 - Homo sapiens mRNA for kelch-like variant, clone: HEP12835.
CR456352 - Homo sapiens Em:AC005500.4 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.Em:AC005500.4.V2).
CU013062 - Homo sapiens KLHL22, mRNA (cDNA clone IMAGE:100000321), complete cds, with stop codon, in Gateway system.
KJ895040 - Synthetic construct Homo sapiens clone ccsbBroadEn_04434 KLHL22 gene, encodes complete protein.
AB385078 - Synthetic construct DNA, clone: pF1KB5298, Homo sapiens KLHL22 gene for kelch-like protein 22, complete cds, without stop codon, in Flexi system.
CU013350 - Homo sapiens KLHL22, mRNA (cDNA clone IMAGE:100000225), complete cds, without stop codon, in Gateway system.
CU677509 - Synthetic construct Homo sapiens gateway clone IMAGE:100019969 5' read KLHL22 mRNA.
MA620686 - JP 2018138019-A/192612: Polycomb-Associated Non-Coding RNAs.
JD474393 - Sequence 455417 from Patent EP1572962.
JD464756 - Sequence 445780 from Patent EP1572962.
JD065263 - Sequence 46287 from Patent EP1572962.
JD234539 - Sequence 215563 from Patent EP1572962.
JD218954 - Sequence 199978 from Patent EP1572962.
LF338594 - JP 2014500723-A/146097: Polycomb-Associated Non-Coding RNAs.
JD207729 - Sequence 188753 from Patent EP1572962.
JD356004 - Sequence 337028 from Patent EP1572962.
JD382461 - Sequence 363485 from Patent EP1572962.
JD069524 - Sequence 50548 from Patent EP1572962.
JD469138 - Sequence 450162 from Patent EP1572962.
LF338593 - JP 2014500723-A/146096: Polycomb-Associated Non-Coding RNAs.
LF338592 - JP 2014500723-A/146095: Polycomb-Associated Non-Coding RNAs.
AK024369 - Homo sapiens cDNA FLJ14307 fis, clone PLACE3000158.
MA574171 - JP 2018138019-A/146097: Polycomb-Associated Non-Coding RNAs.
MA574170 - JP 2018138019-A/146096: Polycomb-Associated Non-Coding RNAs.
MA574169 - JP 2018138019-A/146095: Polycomb-Associated Non-Coding RNAs.
JD492645 - Sequence 473669 from Patent EP1572962.
JD161084 - Sequence 142108 from Patent EP1572962.
JD518948 - Sequence 499972 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q53GT1 (Reactome details) participates in the following event(s):

R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3Q4, A8MTV3, D3DX30, KLH22_HUMAN, NM_032775, NP_116164, Q53GT1, Q96B68, Q96KC6
UCSC ID: uc002zsl.2
RefSeq Accession: NM_032775
Protein: Q53GT1 (aka KLH22_HUMAN)
CCDS: CCDS13780.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_032775.3
exon count: 7CDS single in 3' UTR: no RNA size: 2637
ORF size: 1905CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4010.00frame shift in genome: no % Coverage: 99.20
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.