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    KLHL38 kelch like family member 38 [ Homo sapiens (human) ]

    Gene ID: 340359, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KLHL38provided by HGNC
    Official Full Name
    kelch like family member 38provided by HGNC
    Primary source
    HGNC:HGNC:34435
    See related
    Ensembl:ENSG00000175946 AllianceGenome:HGNC:34435
    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
    C8ORFK36
    Expression
    Biased expression in heart (RPKM 17.1) and esophagus (RPKM 1.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL38 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123644442..123653801, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124775552..124784919, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124656682..124666041, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124518725-124519269 Neighboring gene F-box protein 32 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:124539974-124541173 Neighboring gene MPRA-validated peak7157 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19504 Neighboring gene RN7SK pseudogene 155 Neighboring gene uncharacterized LOC105375738 Neighboring gene annexin A13 Neighboring gene uncharacterized LOC105375739

    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. KLHL38 involvement in non-small cell lung cancer progression via activation of the Akt signaling pathway. Xu Y, et al. Cell Death Dis, 2021 May 28. PMID 34050138, Free PMC Article
    2. CUL3 (cullin 3)-mediated ubiquitination and degradation of BECN1 (beclin 1) inhibit autophagy and promote tumor progression. Li X, et al. Autophagy, 2021 Dec. PMID 33977871, Free PMC Article
    3. Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. Sano M, et al. Hum Mol Genet, 2014 Dec 15. PMID 25055868
    4. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    5. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. Taipale M, et al. Cell, 2014 Jul 17. PMID 25036637, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLHL38 involvement in non-small cell lung cancer progression via activation of the Akt signaling pathway.
      Title: KLHL38 involvement in non-small cell lung cancer progression via activation of the Akt signaling pathway.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    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 38
    Names
    kelch-like 38

    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_001081675.3 → NP_001075144.2  kelch-like protein 38

      See identical proteins and their annotated locations for NP_001075144.2

      Status: VALIDATED

      Source sequence(s)
      AC135166
      Consensus CDS
      CCDS43766.1
      UniProtKB/Swiss-Prot
      A0PK12, Q2WGJ6
      Related
      ENSP00000508228.1, ENST00000684634.1
      Conserved Domains (7) summary
      smart00612
      Location:480 → 521
      Kelch; Kelch domain
      PHA03098
      Location:30 → 560
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:373 → 417
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:24 → 128
      BTB; BTB/POZ domain
      pfam01344
      Location:510 → 560
      Kelch_1; Kelch motif
      pfam07707
      Location:136 → 237
      BACK; BTB And C-terminal Kelch
      pfam13964
      Location:281 → 321
      Kelch_6; Kelch motif

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      123644442..123653801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421744.1 → XP_047277700.1  kelch-like protein 38 isoform X1

      UniProtKB/Swiss-Prot
      A0PK12, Q2WGJ6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      124775552..124784919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360405.1 → XP_054216380.1  kelch-like protein 38 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2WGJ6.3 GenPept UniProtKB/Swiss-Prot:Q2WGJ6

    Gene LinkOut

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

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