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Aliases for CHKB-CPT1B Gene

Subcategory (RNA class) for CHKB-CPT1B Gene

ncRNA

Quality Score for this RNA gene is

3

Aliases for CHKB-CPT1B Gene

  • CHKB-CPT1B Readthrough (NMD Candidate) 2 3 5
  • Choline Kinase-Like, Carnitine Palmitoyltransferase 1B (Muscle) Transcription Unit 3
  • CHKB-CPT1B Readthrough (Non-Protein Coding) 3
  • CHKL-CPT1B 3

External Ids for CHKB-CPT1B Gene

Previous GeneCards Identifiers for CHKB-CPT1B Gene

  • GC22M049297
  • GC22M049355
  • GC22M051009
  • GC22M051010

Summaries for CHKB-CPT1B Gene

Entrez Gene Summary for CHKB-CPT1B Gene

  • The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]

GeneCards Summary for CHKB-CPT1B Gene

CHKB-CPT1B (CHKB-CPT1B Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the ncRNA class. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is CHKB.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHKB-CPT1B Gene

Genomics for CHKB-CPT1B Gene

Regulatory Elements for CHKB-CPT1B Gene

Enhancers for CHKB-CPT1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G050670 1.3 FANTOM5 ENCODE dbSUPER 11.5 -89.4 -89362 3.5 TAF1 MAX UBTF RBBP5 GLIS2 GATA2 POLR2A EGR1 ZNF600 FOS CPT1B SHANK3 CHKB CHKB-AS1 CHKB-CPT1B SYCE3 MAPK8IP2 ACR DENND6B ARSA
GH22G050581 1 ENCODE 0.7 +0.5 470 2.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS CHKB CPT1B MAPK8IP2 CHKB-CPT1B
GH22G050577 0.8 Ensembl ENCODE 0.7 +4.2 4198 2.4 CTCF POLR2A ZNF341 BHLHE40 ZIC2 RBFOX2 EGR2 CPT1B MAPK8IP2 CHKB LMF2 NCAPH2 ARSA PLXNB2 ODF3B CHKB-CPT1B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHKB-CPT1B on UCSC Golden Path with GeneCards custom track

Promoters for CHKB-CPT1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147746 199 1601 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1

Genomic Location for CHKB-CPT1B Gene

Chromosome:
22
Start:
50,568,861 bp from pter
End:
50,582,999 bp from pter
Size:
14,139 bases
Orientation:
Minus strand

Genomic View for CHKB-CPT1B Gene

Genes around CHKB-CPT1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHKB-CPT1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHKB-CPT1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHKB-CPT1B Gene

Proteins for CHKB-CPT1B Gene

  • Protein details for CHKB-CPT1B Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    H3BT56
    Recommended name:
    CHKB-CPT1B readthrough (NMD candidate)
    Protein Accession:
    H3BT56
    Secondary Accessions:
    • J3KQX7

    Protein attributes for CHKB-CPT1B Gene

    Size:
    60 amino acids
    Molecular mass:
    7003 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHKB-CPT1B Gene

Post-translational modifications for CHKB-CPT1B Gene

No Post-translational modifications

Other Protein References for CHKB-CPT1B Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for CHKB-CPT1B Gene

Domains & Families for CHKB-CPT1B Gene

Protein Domains for CHKB-CPT1B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CHKB-CPT1B: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CHKB-CPT1B Gene

Function for CHKB-CPT1B Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CHKB-CPT1B Gene

Localization for CHKB-CPT1B Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CHKB-CPT1B Gene

Pathways & Interactions for CHKB-CPT1B Gene

SuperPathways for CHKB-CPT1B Gene

No Data Available

Interacting Proteins for CHKB-CPT1B Gene

Gene Ontology (GO) - Biological Process for CHKB-CPT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0046474 glycerophospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with CHKB-CPT1B: view

No data available for Pathways by source and SIGNOR curated interactions for CHKB-CPT1B Gene

Drugs & Compounds for CHKB-CPT1B Gene

No Compound Related Data Available

Transcripts for CHKB-CPT1B Gene

mRNA/cDNA for CHKB-CPT1B Gene

(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHKB-CPT1B Gene

No ASD Table

Relevant External Links for CHKB-CPT1B Gene

GeneLoc Exon Structure for
CHKB-CPT1B
ECgene alternative splicing isoforms for
CHKB-CPT1B

Expression for CHKB-CPT1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHKB-CPT1B Gene

genes like me logo Genes that share expression patterns with CHKB-CPT1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHKB-CPT1B Gene

Orthologs for CHKB-CPT1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHKB-CPT1B Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 20 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 19 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CHKB 35
  • 15 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CHKB 35
  • 13 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chkb 35
  • 13 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 10 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
OneToMany
zebrafish
(Danio rerio)
Actinopterygii chkb 35
  • 8 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2201 35
  • 3 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cka-2 35
  • 6 (a)
ManyToMany
cka-1 35
  • 4 (a)
ManyToMany
ckb-4 35
  • 4 (a)
ManyToMany
ckb-1 35
  • 3 (a)
ManyToMany
ckb-2 35
  • 3 (a)
ManyToMany
ckb-3 35
  • 3 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CKI1 35
  • 2 (a)
ManyToMany
EKI1 35
  • 2 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 7 (a)
OneToMany
Species where no ortholog for CHKB-CPT1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHKB-CPT1B Gene

ENSEMBL:
Gene Tree for CHKB-CPT1B (if available)
TreeFam:
Gene Tree for CHKB-CPT1B (if available)

Paralogs for CHKB-CPT1B Gene

Paralogs for CHKB-CPT1B Gene

(1) SIMAP similar genes for CHKB-CPT1B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHKB-CPT1B: view

Variants for CHKB-CPT1B Gene

Sequence variations from dbSNP and Humsavar for CHKB-CPT1B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs387907068 Pathogenic 50,582,666(-) CGCCT(A/C/T)GTCGC nc-transcript-variant, upstream-variant-2KB, reference, missense, stop-gained
rs387907069 Pathogenic 50,579,979(-) AAGAA(C/T)AGCAG nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs750764003 Pathogenic 50,580,198(+) TAGTT(A/G/T)TAACT nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs786205117 Pathogenic 50,581,542(-) CCATT(-/T)GAAAA nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs786205118 Pathogenic 50,580,564(-) CTCAG(A/G)TGAGG upstream-variant-2KB, splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for CHKB-CPT1B Gene

Variant ID Type Subtype PubMed ID
esv2758852 CNV loss 17122850
esv33185 CNV loss 17666407
nsv1057656 CNV gain 25217958
nsv1059234 CNV gain 25217958
nsv1160782 CNV deletion 26073780
nsv471224 CNV loss 18288195
nsv589222 CNV gain 21841781
nsv589223 CNV loss 21841781
nsv829340 CNV gain 20364138
nsv834239 CNV loss 17160897
nsv955202 CNV deletion 24416366

Relevant External Links for CHKB-CPT1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHKB-CPT1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CHKB-CPT1B Gene

Disorders for CHKB-CPT1B Gene

Relevant External Links for CHKB-CPT1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHKB-CPT1B

No disorders were found for CHKB-CPT1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHKB-CPT1B Gene

Publications for CHKB-CPT1B Gene

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 3 64
  2. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. (PMID: 18820697) Miyagawa T. … Tokunaga K. (Nat. Genet. 2008) 3 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  4. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M. … Ohara O. (DNA Res. 2001) 3 64
  5. Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I. (PMID: 10918069) Yamazaki N. … Terada H. (J. Biol. Chem. 2000) 3 64

Products for CHKB-CPT1B Gene

Sources for CHKB-CPT1B Gene

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