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

    Gene ID: 23276, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 6.1), skin (RPKM 5.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL18 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47282944..47346816)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47299326..47363256)
    RS_2024_09 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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    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)

    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 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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