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    KLHL8 kelch like family member 8 [ Homo sapiens (human) ]

    Gene ID: 57563, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KLHL8provided by HGNC
    Official Full Name
    kelch like family member 8provided by HGNC
    Primary source
    HGNC:HGNC:18644
    See related
    Ensembl:ENSG00000145332 MIM:611967; AllianceGenome:HGNC:18644
    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 protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in nucleoplasm. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.3), kidney (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL8 in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (87160103..87240531, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (90489165..90569763, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88081255..88141770, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:87879079-87879662 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:87880372-87881044 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:87881045-87881716 Neighboring gene Sharpr-MPRA regulatory region 10323 Neighboring gene Sharpr-MPRA regulatory region 12874 Neighboring gene Sharpr-MPRA regulatory region 10097/5096 Neighboring gene ALF transcription elongation factor 1 Neighboring gene trans-2,3-enoyl-CoA reductase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21700 Neighboring gene Sharpr-MPRA regulatory region 119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15553 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:87934257-87934756 Neighboring gene NANOG hESC enhancer GRCh37_chr4:87955092-87955593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:87958100-87958600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:87958601-87959101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15554 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:87960255-87961006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21702 Neighboring gene uncharacterized LOC105377320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:88041283-88041858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:88073576-88074076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:88074077-88074577 Neighboring gene uracil DNA glycosylase pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:88140772-88141384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15557 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 Neighboring gene Sharpr-MPRA regulatory region 2168 Neighboring gene Sharpr-MPRA regulatory region 11108 Neighboring gene hydroxysteroid 17-beta dehydrogenase 13 Neighboring gene microRNA 5705

    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. Control of rapsyn stability by the CUL-3-containing E3 ligase complex. Nam S, et al. J Biol Chem, 2009 Mar 20. PMID 19158078, Free PMC Article
    2. Identification of Smurf2 as a HIF-1α degrading E3 ubiquitin ligase. Zhao S, et al. Oncotarget, 2021 Sep 28. PMID 34611473, 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. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    5. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    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)

    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

    • FLJ46304, KIAA1378

    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 protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 8
    Names
    kelch-like 8

    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_001292003.2 → NP_001278932.1  kelch-like protein 8 isoform 1

      See identical proteins and their annotated locations for NP_001278932.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform (1)
      Source sequence(s)
      AA878129, AC092658, AK128827, BC041384, BX538173, BX640744, BX647454, HY117925
      Consensus CDS
      CCDS3617.1
      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9
      Related
      ENSP00000424131.1, ENST00000512111.1
      Conserved Domains (5) summary
      smart00612
      Location:508 → 554
      Kelch; Kelch domain
      PHA03098
      Location:60 → 535
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:356 → 399
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:57 → 161
      BTB; BTB/POZ domain
      pfam07707
      Location:169 → 271
      BACK; BTB And C-terminal Kelch

    2. NM_001292006.2 → NP_001278935.1  kelch-like protein 8 isoform 2

      See identical proteins and their annotated locations for NP_001278935.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter than isoform 1.
      Source sequence(s)
      AA878129, AC092658, BX538173, BX640744, BX647454, CN290430
      Consensus CDS
      CCDS77937.1
      UniProtKB/Swiss-Prot
      Q9P2G9
      UniProtKB/TrEMBL
      Q7Z330
      Related
      ENSP00000426451.1, ENST00000498875.6
      Conserved Domains (3) summary
      smart00612
      Location:432 → 478
      Kelch; Kelch domain
      sd00038
      Location:280 → 323
      Kelch; KELCH repeat [structural motif]
      pfam07707
      Location:93 → 195
      BACK; BTB And C-terminal Kelch

    3. NM_001292007.2 → NP_001278936.1  kelch-like protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001278936.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 3, which lacks an internal segment and is shorter than isoform 1.
      Source sequence(s)
      AA878129, AC092658, BX538173, BX640744, BX647454, CN290430, CR749265
      Consensus CDS
      CCDS75163.1
      UniProtKB/TrEMBL
      Q68DU9
      Related
      ENSP00000408854.2, ENST00000425278.6
      Conserved Domains (2) summary
      smart00612
      Location:325 → 371
      Kelch; Kelch domain
      sd00038
      Location:173 → 216
      Kelch; KELCH repeat [structural motif]

    4. NM_020803.5 → NP_065854.3  kelch-like protein 8 isoform 1

      See identical proteins and their annotated locations for NP_065854.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA878129, AC092658, BX538173, BX640727, BX640744, BX647454, CN290430
      Consensus CDS
      CCDS3617.1
      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9
      Related
      ENSP00000273963.5, ENST00000273963.10
      Conserved Domains (5) summary
      smart00612
      Location:508 → 554
      Kelch; Kelch domain
      PHA03098
      Location:60 → 535
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:356 → 399
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:57 → 161
      BTB; BTB/POZ domain
      pfam07707
      Location:169 → 271
      BACK; BTB And C-terminal Kelch

    RNA

    1. NR_120447.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA878129, AC092658, BC041901, BX538173, BX640744, BX647454, CN290430

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      87160103..87240531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416014.1 → XP_047271970.1  kelch-like protein 8 isoform X2

      UniProtKB/TrEMBL
      Q68DU9

    2. XM_047416012.1 → XP_047271968.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9

    3. XM_047416013.1 → XP_047271969.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9

    4. XM_047416011.1 → XP_047271967.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      90489165..90569763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350594.1 → XP_054206569.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9

    2. XM_054350596.1 → XP_054206571.1  kelch-like protein 8 isoform X2

      UniProtKB/TrEMBL
      Q68DU9

    3. XM_054350595.1 → XP_054206570.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9

    4. XM_054350593.1 → XP_054206568.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q53XA3, Q6N018, Q9P2G9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2G9.4 GenPept UniProtKB/Swiss-Prot:Q9P2G9

    Gene LinkOut

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

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