U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

KLHL14 kelch like family member 14 [ Homo sapiens (human) ]

Gene ID: 57565, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
KLHL14provided by HGNC
Official Full Name
kelch like family member 14provided by HGNC
Primary source
HGNC:HGNC:29266
See related
Ensembl:ENSG00000197705 MIM:613772; AllianceGenome:HGNC:29266
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
Summary
The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]
Expression
Biased expression in thyroid (RPKM 4.4), spleen (RPKM 2.8) and 10 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
18q12.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (32672673..32773023, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (32864443..32964769, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (30252636..30352986, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene GRB2 associated regulator of MAPK1 subtype 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:30128498-30129051 Neighboring gene WBP11 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:30159089-30159609 Neighboring gene uncharacterized LOC112268208 Neighboring gene uncharacterized LOC105372055 Neighboring gene ribosomal protein S27 pseudogene 28 Neighboring gene uncharacterized LOC105372058 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:30466839-30468038

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14. Choi J, et al. Proc Natl Acad Sci U S A, 2020 Mar 17. PMID 32127472, Free PMC Article
  2. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing. Vater I, et al. Leukemia, 2015 Mar. PMID 25189415
  3. Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. Giles LM, et al. J Biol Chem, 2009 Aug 7. PMID 19535332, Free PMC Article
  4. Regulation of Torsin ATPases by LAP1 and LULL1. Zhao C, et al. Proc Natl Acad Sci U S A, 2013 Apr 23. PMID 23569223, Free PMC Article
  5. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel tumor suppressor, KLHL14, is a subunit of a ubiquitin ligase that associates with the endoplasmic reticulum-associated protein degradation machinery. KLHL14 promotes ubiquitylation of B cell receptor (BCR) subunits and decreases the stability of immature BCR glycoforms in the endoplasmic reticulum, thereby reducing BCR levels. Conversely, loss of KLHL14 promotes BCR-dependent NF-kappaB activation and survival.
    Title: Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14.
  2. TorsinA ATP hydrolysis is induced upon association with LAP1 and LULL1, type II transmembrane proteins residing in the nuclear envelope and endoplasmic reticulum.
    Title: Regulation of Torsin ATPases by LAP1 and LULL1.
  3. 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.
  4. Printor is a torsinA-interacting protein implicated in dystonia pathogenesis
    Title: Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in aggresome IDA
Inferred from Direct Assay
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
kelch-like protein 14
Names
kelch-like 14
printor
protein interactor of Torsin-1A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_020805.3 → NP_065856.1  kelch-like protein 14

    See identical proteins and their annotated locations for NP_065856.1

    Status: REVIEWED

    Source sequence(s)
    AB037805, AC012123
    Consensus CDS
    CCDS32813.1
    UniProtKB/Swiss-Prot
    A6NNW1, B4DHA0, Q8WU41, Q9P2G3
    Related
    ENSP00000352314.4, ENST00000359358.9
    Conserved Domains (4) summary
    PHA03098
    Location:138 → 600
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:363 → 410
    Kelch; KELCH repeat [structural motif]
    cd18243
    Location:1 → 188
    BTB_POZ_KLHL14_printor; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 14 (KLHL14)
    cd18453
    Location:181 → 282
    BACK_KLHL14; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 14 (KLHL14)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    32672673..32773023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437684.1 → XP_047293640.1  kelch-like protein 14 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    32864443..32964769 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318886.1 → XP_054174861.1  kelch-like protein 14 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2G3.2 GenPept UniProtKB/Swiss-Prot:Q9P2G3

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous