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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]
KLHL14 (Kelch Like Family Member 14) is a Protein Coding gene. Diseases associated with KLHL14 include Dystonia. An important paralog of this gene is KLHL9.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J032768 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 256.7 | +2.8 | 2804 | 6 | ZFP64 THAP11 FOXA2 SMAD4 SAP130 ZNF341 MIER3 ETV4 GABPB1 RARA | KLHL14 ENSG00000228835 LOC105372055 GAREM1 | |
GH18J032774 | Enhancer | 0.6 | UCNEbase | 250.7 | -0.4 | -355 | 0.3 | ZNF341 RBM22 EZH2 EP300 | KLHL14 LOC105372055 ENSG00000228835 lnc-MEP1B-6 CCDC178 | |
GH18J032801 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 17.4 | -30.3 | -30277 | 3.8 | CEBPA FOXA1 HOMEZ KDM6A THAP11 RAD51 FOXA2 ZNF511 SMAD4 SAP130 | KLHL14 HSALNG0120802 HSALNG0120803 CCDC178 | |
GH18J032742 | Enhancer | 0.8 | UCNEbase Ensembl | 17 | +30.2 | 30222 | 2 | CTCF ZIC2 GLIS1 ZNF398 RAD21 POLR2A | KLHL14 piR-51137-052 ENSG00000228835 ENSG00000285095 GAREM1 | |
GH18J032753 | Enhancer | 0.4 | Ensembl | 7.3 | +18.1 | 18149 | 2.3 | ZIC2 ZBTB48 TRIM28 | KLHL14 ENSG00000228835 piR-51137-052 GAREM1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA | 19535332 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005829 | cytosol | IEA,IDA | -- |
GO:0015629 | actin cytoskeleton | IDA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLHL14 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KLHL14 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KLHL14 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KLHL14 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLHL14 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Klhl14 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Klhl14 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KLHL14 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KLHL14 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | klhl14 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | klhl14 30 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3330n100 | CNV | gain | 25217958 |
dgv3331n100 | CNV | gain | 25217958 |
dgv3332n100 | CNV | gain | 25217958 |
esv998622 | CNV | deletion | 20482838 |
nsv1071449 | CNV | deletion | 25765185 |
nsv1138618 | CNV | deletion | 24896259 |
nsv953529 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dystonia |
|
|