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KLHL18 kelch like family member 18 [ Homo sapiens (human) ]

Gene ID: 23276, updated on 2-May-2024

Summary

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Official Symbol
KLHL18provided by HGNC
Official Full Name
kelch like family member 18provided by HGNC
Primary source
HGNC:HGNC:29120
See related
Ensembl:ENSG00000114648 MIM:619926; AllianceGenome:HGNC:29120
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
Summary
Involved in positive regulation of mitotic cell cycle phase transition and protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 6.1), skin (RPKM 5.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47282944..47346816)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47299326..47363256)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47324434..47388306)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SET domain containing 2, histone lysine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19809 Neighboring gene MPRA-validated peak4632 silencer Neighboring gene KIF9 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47238926-47239426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19810 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:47301362-47302268 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 3 Neighboring gene small nucleolar RNA, C/D box 13J Neighboring gene kinesin family member 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:47323613-47324812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14308 Neighboring gene Sharpr-MPRA regulatory region 13740 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:47403837-47405036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:47421897-47422574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:47422575-47423250 Neighboring gene PTPN23 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr3:47440022-47440203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47446437-47446936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47447130-47447995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47457269-47457770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47457771-47458270 Neighboring gene protein tyrosine phosphatase non-receptor type 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19815 Neighboring gene SREBF chaperone Neighboring gene small nucleolar RNA U13

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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Related articles in PubMed

  1. KLHL18 inhibits the proliferation, migration, and invasion of non-small cell lung cancer by inhibiting PI3K/PD-L1 axis activity. Jiang X, et al. Cell Biosci, 2020 Nov 27. PMID 33292627, Free PMC Article
  2. The CUL3-KLHL18 ligase regulates mitotic entry and ubiquitylates Aurora-A. Moghe S, et al. Biol Open, 2012 Feb 15. PMID 23213400, Free PMC Article
  3. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Kato K, et al. J Hum Genet, 2021 May. PMID 33130828
  4. Cul3-Klhl18 ubiquitin ligase modulates rod transducin translocation during light-dark adaptation. Chaya T, et al. EMBO J, 2019 Dec 2. PMID 31696965, Free PMC Article
  5. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13703, FLJ61265, KIAA0795

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of mitotic cell cycle phase transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
kelch-like protein 18

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_025010.5 → NP_079286.2  kelch-like protein 18

    See identical proteins and their annotated locations for NP_079286.2

    Status: VALIDATED

    Source sequence(s)
    AC104447
    Consensus CDS
    CCDS33749.1
    UniProtKB/Swiss-Prot
    A8K612, O94889, Q7Z3E8, Q8N125
    Related
    ENSP00000232766.5, ENST00000232766.6
    Conserved Domains (6) summary
    smart00612
    Location:384 → 430
    Kelch; Kelch domain
    PHA03098
    Location:34 → 552
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:326 → 369
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:28 → 131
    BTB; BTB/POZ domain
    pfam01344
    Location:325 → 370
    Kelch_1; Kelch motif
    pfam07707
    Location:140 → 242
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    47282944..47346816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265001.4 → XP_005265058.2  kelch-like protein 18 isoform X1

    Conserved Domains (6) summary
    smart00612
    Location:394 → 440
    Kelch; Kelch domain
    PHA03098
    Location:34 → 562
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:331 → 374
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:28 → 131
    BTB; BTB/POZ domain
    pfam01344
    Location:330 → 375
    Kelch_1; Kelch motif
    pfam07707
    Location:140 → 242
    BACK; BTB And C-terminal Kelch

  2. XM_005265002.6 → XP_005265059.2  kelch-like protein 18 isoform X2

    Conserved Domains (6) summary
    smart00612
    Location:389 → 435
    Kelch; Kelch domain
    PHA03098
    Location:34 → 557
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:331 → 374
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:28 → 131
    BTB; BTB/POZ domain
    pfam01344
    Location:330 → 375
    Kelch_1; Kelch motif
    pfam07707
    Location:140 → 242
    BACK; BTB And C-terminal Kelch

  3. XM_005265003.4 → XP_005265060.2  kelch-like protein 18 isoform X3

    Conserved Domains (6) summary
    smart00612
    Location:389 → 435
    Kelch; Kelch domain
    PHA03098
    Location:34 → 557
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:326 → 369
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:28 → 131
    BTB; BTB/POZ domain
    pfam01344
    Location:325 → 370
    Kelch_1; Kelch motif
    pfam07707
    Location:140 → 242
    BACK; BTB And C-terminal Kelch

  4. XM_017006033.2 → XP_016861522.1  kelch-like protein 18 isoform X5

  5. XM_047447818.1 → XP_047303774.1  kelch-like protein 18 isoform X4

  6. XM_047447816.1 → XP_047303772.1  kelch-like protein 18 isoform X4

  7. XM_047447817.1 → XP_047303773.1  kelch-like protein 18 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    47299326..47363256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345878.1 → XP_054201853.1  kelch-like protein 18 isoform X1

  2. XM_054345879.1 → XP_054201854.1  kelch-like protein 18 isoform X2

  3. XM_054345880.1 → XP_054201855.1  kelch-like protein 18 isoform X3

  4. XM_054345883.1 → XP_054201858.1  kelch-like protein 18 isoform X5

  5. XM_054345882.1 → XP_054201857.1  kelch-like protein 18 isoform X4

  6. XM_054345881.1 → XP_054201856.1  kelch-like protein 18 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94889.3 GenPept UniProtKB/Swiss-Prot:O94889

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