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

Gene ID: 27252, updated on 2-Nov-2024

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
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Genomic context

See KLHL20 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 45 Neighboring gene uncharacterized LOC105371619 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173610829-173612028 Neighboring gene testis expressed 50 Neighboring gene small nucleolar RNA U13 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2114 Neighboring gene ribosomal protein S27 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:173728073-173728573 Neighboring gene MPRA-validated peak463 silencer Neighboring gene RN7SK pseudogene 160 Neighboring gene centromere protein L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2116 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:173793515-173794033 and GRCh37_chr1:173794034-173794551 Neighboring gene aspartyl-tRNA synthetase 2, mitochondrial

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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

  1. NG_046985.1 RefSeqGene

    Range
    5070..76781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014458.4NP_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:63586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:355399
    Kelch; KELCH repeat [structural motif]
    cd18249
    Location:45172
    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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    173714981..173786692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001052.2XP_016856541.1  kelch-like protein 20 isoform X1

  2. XM_017001053.2XP_016856542.1  kelch-like protein 20 isoform X2

    Conserved Domains (3) summary
    PHA03098
    Location:138613
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:430473
    Kelch; KELCH repeat [structural motif]
    cd18249
    Location:120247
    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)
  3. XM_005245093.5XP_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:63586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:355399
    Kelch; KELCH repeat [structural motif]
    cd18249
    Location:45172
    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)
  4. XM_024446468.2XP_024302236.1  kelch-like protein 20 isoform X6

    Conserved Domains (2) summary
    PHA03098
    Location:15397
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:166210
    Kelch; KELCH repeat [structural motif]
  5. XM_024446472.2XP_024302240.1  kelch-like protein 20 isoform X6

    Conserved Domains (2) summary
    PHA03098
    Location:15397
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:166210
    Kelch; KELCH repeat [structural motif]
  6. XM_047418030.1XP_047273986.1  kelch-like protein 20 isoform X5

  7. XM_047418029.1XP_047273985.1  kelch-like protein 20 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    173064952..173144852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336042.1XP_054192017.1  kelch-like protein 20 isoform X1

  2. XM_054336043.1XP_054192018.1  kelch-like protein 20 isoform X2

  3. XM_054336046.1XP_054192021.1  kelch-like protein 20 isoform X5

  4. XM_054336045.1XP_054192020.1  kelch-like protein 20 isoform X4

  5. XM_054336044.1XP_054192019.1  kelch-like protein 20 isoform X3

    UniProtKB/Swiss-Prot
    B3KMA0, B4DUR0, Q5TZF2, Q5ZF45, Q9H457, Q9Y2M5
  6. XM_054336047.1XP_054192022.1  kelch-like protein 20 isoform X6

  7. XM_054336048.1XP_054192023.1  kelch-like protein 20 isoform X6