Human Gene KLHL40 (ENST00000287777.5_4) from GENCODE V47lift37
  Description: kelch like family member 40 (from RefSeq NM_152393.4)
Gencode Transcript: ENST00000287777.5_4
Gencode Gene: ENSG00000157119.12_7
Transcript (Including UTRs)
   Position: hg19 chr3:42,727,029-42,734,036 Size: 7,008 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr3:42,727,111-42,733,485 Size: 6,375 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:42,727,029-42,734,036)mRNA (may differ from genome)Protein (621 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KBTB5_HUMAN
DESCRIPTION: RecName: Full=Kelch repeat and BTB domain-containing protein 5; AltName: Full=Sarcosynapsin;
SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 5 Kelch repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

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: KLHL40
Diseases sorted by gene-association score: nemaline myopathy 8, autosomal recessive* (1200), severe congenital nemaline myopathy* (175), klhl40-related nemaline myopathy* (119), nemaline myopathy (22), locked-in syndrome (11), myopathy (8), fetal akinesia deformation sequence (7), congenital structural myopathy (6)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 143.29 RPKM in Muscle - Skeletal
Total median expression: 148.47 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 -20.4082-0.249 Picture PostScript Text
3' UTR -206.40551-0.375 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
IPR017096 - Kelch-like_gigaxonin
IPR015915 - Kelch-typ_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07707 - BTB And C-terminal Kelch
PF13415 - Galactose oxidase, central domain

SCOP Domains:
117281 - Kelch motif
63825 - YWTD domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50998 - Quinoprotein alcohol dehydrogenase-like
54695 - POZ domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4ASC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q2TBA0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0007275 multicellular organism development
GO:0016567 protein ubiquitination
GO:0031397 negative regulation of protein ubiquitination
GO:0031398 positive regulation of protein ubiquitination
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0048741 skeletal muscle fiber development
GO:0098528 skeletal muscle fiber differentiation

Cellular Component:
GO:0005737 cytoplasm
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0031672 A band
GO:0031674 I band


-  Descriptions from all associated GenBank mRNAs
  LF208674 - JP 2014500723-A/16177: Polycomb-Associated Non-Coding RNAs.
AY176040 - Homo sapiens sarcosynapsin (SRYP) mRNA, complete cds.
AY177390 - Homo sapiens sarcosynapsin (SRYP) mRNA, complete cds.
AK300682 - Homo sapiens cDNA FLJ51312 complete cds, highly similar to Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.
AK291294 - Homo sapiens cDNA FLJ76839 complete cds, highly similar to Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.
AK056577 - Homo sapiens cDNA FLJ32015 fis, clone NTONG1000052, weakly similar to Rattus norvegicus mRNA for Kelch related protein 1.
BC110491 - Homo sapiens kelch repeat and BTB (POZ) domain containing 5, mRNA (cDNA clone MGC:125350 IMAGE:40007554), complete cds.
KJ900138 - Synthetic construct Homo sapiens clone ccsbBroadEn_09532 KBTBD5 gene, encodes complete protein.
MA444251 - JP 2018138019-A/16177: Polycomb-Associated Non-Coding RNAs.
LF212326 - JP 2014500723-A/19829: Polycomb-Associated Non-Coding RNAs.
JD080079 - Sequence 61103 from Patent EP1572962.
MA447903 - JP 2018138019-A/19829: Polycomb-Associated Non-Coding RNAs.
JD289079 - Sequence 270103 from Patent EP1572962.
JD339883 - Sequence 320907 from Patent EP1572962.
JD240733 - Sequence 221757 from Patent EP1572962.
JD324265 - Sequence 305289 from Patent EP1572962.
JD071213 - Sequence 52237 from Patent EP1572962.
JD157903 - Sequence 138927 from Patent EP1572962.
JD446270 - Sequence 427294 from Patent EP1572962.
JD460610 - Sequence 441634 from Patent EP1572962.
JD131597 - Sequence 112621 from Patent EP1572962.
JD195599 - Sequence 176623 from Patent EP1572962.
JD516723 - Sequence 497747 from Patent EP1572962.
JD240162 - Sequence 221186 from Patent EP1572962.
JD147718 - Sequence 128742 from Patent EP1572962.
JD538416 - Sequence 519440 from Patent EP1572962.
JD039090 - Sequence 20114 from Patent EP1572962.
JD296191 - Sequence 277215 from Patent EP1572962.
JD075950 - Sequence 56974 from Patent EP1572962.
JD231262 - Sequence 212286 from Patent EP1572962.
JD468412 - Sequence 449436 from Patent EP1572962.
JD531924 - Sequence 512948 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000287777.1, ENST00000287777.2, ENST00000287777.3, ENST00000287777.4, KBTBD5, KLH40_HUMAN, KLHL40 , NM_152393, Q2TBA0, Q86SI1, Q96MR2, SRYP , uc317kny.1, uc317kny.2
UCSC ID: ENST00000287777.5_4
RefSeq Accession: NM_152393.4
Protein: Q2TBA0 (aka KBTB5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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