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

Gene ID: 340359, updated on 18-Sep-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
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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 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)

Genotypes

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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