Human Gene KLHL17 (ENST00000338591.8) from GENCODE V44
  Description: Homo sapiens kelch like family member 17 (KLHL17), mRNA. (from RefSeq NM_198317)
RefSeq Summary (NM_198317): The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010].
Gencode Transcript: ENST00000338591.8
Gencode Gene: ENSG00000187961.15
Transcript (Including UTRs)
   Position: hg38 chr1:960,584-965,719 Size: 5,136 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr1:960,694-965,191 Size: 4,498 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:960,584-965,719)mRNA (may differ from genome)Protein (642 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KLH17_HUMAN
DESCRIPTION: RecName: Full=Kelch-like protein 17; AltName: Full=Actinfilin;
FUNCTION: Substrate-recognition component of some cullin-RING- based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with F-actin; the interaction disruptes the F- actin structures and leads to marked changes of neuronal morphology. Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts directly with PDZK1 (via PDZ1 domain); the interaction is important for integrity of actin cytoskeleton structures in neurons. Interacts with DLG4 and SYNGAP1. Interacts (via kelch repeats) with GRIK2 (via C- terminus); the interaction targets GRIK2 for degradation via ubiquitin-proteasome pathway. Interacts with GRIK1. Interacts with (via BTB domain) CUL3; the interaction regulates surface GRIK2 expression (By similarity).
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density (By similarity).
SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 6 Kelch repeats.

-  Primer design for this transcript
 

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KLHL17
Diseases sorted by gene-association score: chromosome 1p36 deletion syndrome (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.33 RPKM in Testis
Total median expression: 255.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.20110-0.411 Picture PostScript Text
3' UTR -207.20528-0.392 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011705 - BACK
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR015916 - Gal_Oxidase_b-propeller
IPR017096 - Kelch-like_gigaxonin
IPR006652 - Kelch_1

Pfam Domains:
PF07707 - BTB And C-terminal Kelch
PF00651 - BTB/POZ domain
PF01344 - Kelch motif

ModBase Predicted Comparative 3D Structure on Q6TDP4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0031208 POZ domain binding
GO:0032947 protein complex scaffold
GO:0051015 actin filament binding
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0007420 brain development
GO:0016567 protein ubiquitination
GO:0030036 actin cytoskeleton organization

Cellular Component:
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030054 cell junction
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0032839 dendrite cytoplasm
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AK127585 - Homo sapiens cDNA FLJ45680 fis, clone ERLTF2002178, highly similar to Kelch-like protein 17.
AY423763 - Homo sapiens actinfilin mRNA, complete cds.
BC105742 - Homo sapiens kelch-like 17 (Drosophila), mRNA (cDNA clone IMAGE:40026625), complete cds.
BC166618 - Synthetic construct Homo sapiens clone IMAGE:100066344, MGC:195481 kelch-like 17 (Drosophila) (KLHL17) mRNA, encodes complete protein.
BC045768 - Homo sapiens kelch-like 17 (Drosophila), mRNA (cDNA clone IMAGE:5732717), complete cds.
JD477037 - Sequence 458061 from Patent EP1572962.
JD150943 - Sequence 131967 from Patent EP1572962.
CU692292 - Synthetic construct Homo sapiens gateway clone IMAGE:100022722 5' read KLHL17 mRNA.
KJ904192 - Synthetic construct Homo sapiens clone ccsbBroadEn_13586 KLHL17 gene, encodes complete protein.
JD193557 - Sequence 174581 from Patent EP1572962.
AK293258 - Homo sapiens cDNA FLJ50001 complete cds, moderately similar to Kelch-like protein 17.
BC033192 - Homo sapiens cDNA clone IMAGE:4661653.
JD119671 - Sequence 100695 from Patent EP1572962.
JD477039 - Sequence 458063 from Patent EP1572962.
JD396919 - Sequence 377943 from Patent EP1572962.
JD382601 - Sequence 363625 from Patent EP1572962.
JD065833 - Sequence 46857 from Patent EP1572962.
JD237384 - Sequence 218408 from Patent EP1572962.
JD143573 - Sequence 124597 from Patent EP1572962.
JD494154 - Sequence 475178 from Patent EP1572962.
JD399983 - Sequence 381007 from Patent EP1572962.
JD538483 - Sequence 519507 from Patent EP1572962.
JD544870 - Sequence 525894 from Patent EP1572962.
JD380402 - Sequence 361426 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000338591.1, ENST00000338591.2, ENST00000338591.3, ENST00000338591.4, ENST00000338591.5, ENST00000338591.6, ENST00000338591.7, KLH17_HUMAN, NM_198317, Q5SV94, Q6TDP4, uc001aca.1, uc001aca.2, uc001aca.3, uc001aca.4
UCSC ID: ENST00000338591.8
RefSeq Accession: NM_198317
Protein: Q6TDP4 (aka KLH17_HUMAN or KH17_HUMAN)
CCDS: CCDS30550.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.