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

Summary

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
Summary: Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart (RPKM 17.1) and esophagus (RPKM 1.0) See more
Orthologs: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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 EBI GWAS CatalogPubMed

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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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)

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