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

Summary

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
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Genomic context

Location:: 18q12.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (32672673..32773023, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (32864443..32964769, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (30252636..30352986, complement)

Chromosome 18 - NC_000018.10 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?

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.
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.
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.
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

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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

SHGC-83303 (e-PCR)
- UniSTS:101179

SHGC-142763 (e-PCR)
- UniSTS:171642

RH123196 (e-PCR)
- UniSTS:135577

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
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

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Preferred Names: kelch-like protein 14

Names: kelch-like 14; printor; protein interactor of Torsin-1A

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

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)