KLHL20 kelch like family member 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL20provided by HGNC
Official Full Name: kelch like family member 20provided by HGNC
Primary source: HGNC:HGNC:25056
See related: Ensembl:ENSG00000076321 MIM:617679; AllianceGenome:HGNC:25056
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KHLHX; KLEIP; KLHLX
Summary: The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 10.0), fat (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (173714981..173786692)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (173064952..173144852)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (173684120..173755830)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Title: De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
A 1.1-A degrees crystal structure of a KLHL20-DAPK1 complex reveals a hydrophobic pocket in KLHL20. DAPK1 helical turn inserts into the beta-propeller to contact all six Kelch repeats of KLHL20.
Title: Structural Basis for Recruitment of DAPK1 to the KLHL20 E3 Ligase.
Study identifies a key role of Cul3-KLHL20 in autophagy termination by controlling autophagy-dependent turnover of ULK1 and VPS34 complex subunits and reveals the pathophysiological functions of this autophagy termination mechanism.
Title: Cul3-KLHL20 Ubiquitin Ligase Governs the Turnover of ULK1 and VPS34 Complexes to Control Autophagy Termination.
study reveals a function of KLHL20-mediated, K33-linked ubiquitination of Crn7 in the assembly of (trans-Golgi network )TGN-associated F-actin to promote post-Golgi trafficking and identifies a cellular decoding mechanism for this ubiquitin chain type.
Title: K33-Linked Polyubiquitination of Coronin 7 by Cul3-KLHL20 Ubiquitin E3 Ligase Regulates Protein Trafficking.
These results indicate that KLHL20 is a novel player that regulates HIF-2alpha protein expression through mechanisms independent of hypoxia and pVHL.
Title: Kelch-like 20 up-regulates the expression of hypoxia-inducible factor-2α through hypoxia- and von Hippel-Lindau tumor suppressor protein-independent regulatory mechanisms.
study indicates that the KLHL20-mediated PML degradation and HIF-1alpha autoregulation play key roles in tumor progression
Title: A Cullin3-KLHL20 Ubiquitin ligase-dependent pathway targets PML to potentiate HIF-1 signaling and prostate cancer progression.
KLHL20-Cul3-ROC1 is an E3 ligase for DAPK ubiquitination
Title: The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses.
BTB-kelch protein KLEIP, a novel regulator of endothelial function during angiogenesis, controls the vascular endothelial growth factor (VEGF)-induced activation of Rho GTPases.
Title: The BTB-Kelch protein KLEIP controls endothelial migration and sprouting angiogenesis.

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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

AL009545 (e-PCR)
- UniSTS:41420

SHGC-75892 (e-PCR)
- UniSTS:52190

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables type II interferon binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to endosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	TAS Traceable Author Statement more info
involved_in negative regulation of apoptotic process	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 proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K33-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in response to interferon-alpha	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in PML body	IBA Inferred from Biological aspect of Ancestor more info
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in actin cytoskeleton	TAS Traceable Author Statement more info
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: kelch-like protein 20

Names: Kelch motif containing protein; kelch-like ECT2-interacting protein; kelch-like protein X

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.

Genomic

NG_046985.1 RefSeqGene

Range

5070..76781

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014458.4 → NP_055273.2 kelch-like protein 20

See identical proteins and their annotated locations for NP_055273.2

Status: REVIEWED

Source sequence(s)

AB026190, BC063418, CB143306

Consensus CDS

CCDS1310.1

UniProtKB/Swiss-Prot

B3KMA0, B4DUR0, Q5TZF2, Q5ZF45, Q9H457, Q9Y2M5

Related

ENSP00000209884.4, ENST00000209884.5

Conserved Domains (3) summary

PHA03098
Location:63 → 586

PHA03098; kelch-like protein; Provisional

sd00038
Location:355 → 399

Kelch; KELCH repeat [structural motif]

cd18249
Location:45 → 172

BTB_POZ_KLHL20_KLEIP; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 20 (KLHL20)

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

173714981..173786692

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001052.2 → XP_016856541.1 kelch-like protein 20 isoform X1
XM_017001053.2 → XP_016856542.1 kelch-like protein 20 isoform X2

Conserved Domains (3) summary

PHA03098
Location:138 → 613

PHA03098; kelch-like protein; Provisional

sd00038
Location:430 → 473

Kelch; KELCH repeat [structural motif]

cd18249
Location:120 → 247

BTB_POZ_KLHL20_KLEIP; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 20 (KLHL20)
XM_005245093.5 → XP_005245150.1 kelch-like protein 20 isoform X3

See identical proteins and their annotated locations for XP_005245150.1

UniProtKB/Swiss-Prot

B3KMA0, B4DUR0, Q5TZF2, Q5ZF45, Q9H457, Q9Y2M5

Conserved Domains (3) summary

PHA03098
Location:63 → 586

PHA03098; kelch-like protein; Provisional

sd00038
Location:355 → 399

Kelch; KELCH repeat [structural motif]

cd18249
Location:45 → 172

BTB_POZ_KLHL20_KLEIP; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 20 (KLHL20)
XM_024446468.2 → XP_024302236.1 kelch-like protein 20 isoform X6

Conserved Domains (2) summary

PHA03098
Location:15 → 397

PHA03098; kelch-like protein; Provisional

sd00038
Location:166 → 210

Kelch; KELCH repeat [structural motif]
XM_024446472.2 → XP_024302240.1 kelch-like protein 20 isoform X6

Conserved Domains (2) summary

PHA03098
Location:15 → 397

PHA03098; kelch-like protein; Provisional

sd00038
Location:166 → 210

Kelch; KELCH repeat [structural motif]
XM_047418030.1 → XP_047273986.1 kelch-like protein 20 isoform X5
XM_047418029.1 → XP_047273985.1 kelch-like protein 20 isoform X4