Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHKB-CPT1B Gene

Subcategory (RNA class) for CHKB-CPT1B Gene

ncRNA

Quality Score for this RNA gene is

13

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. Diseases associated with CHKB-CPT1B include Muscular Dystrophy, Congenital, Megaconial Type. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is CHKB.

Additional gene information for CHKB-CPT1B Gene

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

GeneHancer (GH) Regulatory Elements for CHKB-CPT1B Gene

Promoters and enhancers for CHKB-CPT1B Gene
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
GH22J050581 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 469 2.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 FOS CHKB CHKB-CPT1B CHKB-DT CPT1B MAPK8IP2
GH22J050584 Enhancer 0.2 ENCODE 650.7 -1.6 -1565 0 CHKB-DT CHKB-CPT1B ENSG00000272940 CHKB
GH22J050670 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -90.0 -90005 4.8 ZFP64 ZSCAN4 KLF17 FEZF1 KLF14 ZNF2 ZNF335 GLIS2 EGR1 KLF7 SHANK3 BRD1 CPT1B ZBED4 ENSG00000272836 LOC105373095 LMF2 NCAPH2 TUBGCP6 CHKB
GH22J050577 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 0.7 +4.2 4197 2.4 RXRA ZNF341 ZIC2 RUNX3 EGR2 CPT1B PIR46612 CHKB MAPK8IP2 LMF2 NCAPH2 ARSA PLXNB2 ODF3B CHKB-CPT1B
GH22J050568 Promoter/Enhancer 1.3 EPDnew ENCODE 0.4 +13.5 13540 2.3 ELF3 PKNOX1 ATF1 FOXA2 MLX DMAP1 RAD21 RARA ETS1 YY1 CPT1B GC22M050557 GC22P050570 ENSG00000272821 MAPK8IP2 CHKB ODF3B CHKB-CPT1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

Genomic Locations for CHKB-CPT1B Gene

Genomic Locations for CHKB-CPT1B Gene
chr22:50,568,861-50,582,999
(GRCh38/hg38)
Size:
14,139 bases
Orientation:
Minus strand
chr22:51,007,290-51,021,428
(GRCh37/hg19)
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-H3BT56_HUMAN
    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

Phenotypes From GWAS Catalog 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 , Subcellular locations from the Human Protein Atlas (HPA) 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 :
(1) RNA Central transcripts :

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 -- 34
  • 20 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 19 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CHKB 34
  • 15 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CHKB 34
  • 13 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Chkb 34
  • 13 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 10 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
OneToMany
zebrafish
(Danio rerio)
Actinopterygii chkb 34
  • 8 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2201 34
  • 3 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cka-2 34
  • 6 (a)
ManyToMany
ckb-4 34
  • 4 (a)
ManyToMany
cka-1 34
  • 4 (a)
ManyToMany
ckb-2 34
  • 3 (a)
ManyToMany
ckb-1 34
  • 3 (a)
ManyToMany
ckb-3 34
  • 3 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EKI1 34
  • 2 (a)
ManyToMany
CKI1 34
  • 2 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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:

  • H3BT56_HUMAN
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 Variation AA Info Type
rs1056964 likely-benign, Congenital Muscular Dystrophy, CHKB-related 50,579,047(-) A/C/G/T non_coding_transcript_variant
rs112742765 uncertain-significance, Congenital Muscular Dystrophy, CHKB-related 50,579,055(-) G/A/C non_coding_transcript_variant
rs114094125 uncertain-significance, Congenital Muscular Dystrophy, CHKB-related 50,582,878(-) C/G non_coding_transcript_variant
rs138205828 uncertain-significance, likely-benign, benign, Congenital Muscular Dystrophy, CHKB-related, not specified, Muscular dystrophy, congenital, megaconial type 50,582,633(-) T/C non_coding_transcript_variant
rs140867913 uncertain-significance, Congenital Muscular Dystrophy, CHKB-related 50,582,307(-) G/A non_coding_transcript_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

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for CHKB-CPT1B Gene - From: GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, congenital, megaconial type
  • mdcmc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHKB-CPT1B

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

No data available for 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 TD (PloS one 2010) 3 58
  2. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. (PMID: 18820697) Miyagawa T … Tokunaga K (Nature genetics 2008) 3 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
  4. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 58
  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 (The Journal of biological chemistry 2000) 3 58

Products for CHKB-CPT1B Gene

Sources for CHKB-CPT1B Gene

Content
Loading form....