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Aliases for CBWD1 Gene

Aliases for CBWD1 Gene

  • COBW Domain Containing 1 2 3 5
  • Cobalamin Synthase W Domain-Containing Protein 1 3 4
  • NPC-A-6 COBW Domain-Containing Protein 1 3 4
  • COBP 3 4
  • Cobalamin Synthetase W Domain-Containing Protein 1 3
  • COBW Domain-Containing Protein 1 3
  • COBW-Like Protein 3
  • NPC-A-6 4

External Ids for CBWD1 Gene

Previous GeneCards Identifiers for CBWD1 Gene

  • GC00U991133
  • GC09M000111

Summaries for CBWD1 Gene

GeneCards Summary for CBWD1 Gene

CBWD1 (COBW Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is CBWD2.

Gene Wiki entry for CBWD1 Gene

Additional gene information for CBWD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBWD1 Gene

Genomics for CBWD1 Gene

Regulatory Elements for CBWD1 Gene

Enhancers for CBWD1 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
GH09H000268 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32 -90.0 -89952 1 ZNF740 MAFG ZNF140 ZNF589 ZNF316 ID3 NFE2 EMSY CBWD1 DOCK8 WASHC1 RPL12P25 C9orf66 KANK1 ENSG00000235880 GC09P000245
GH09H000210 1.2 FANTOM5 ENCODE dbSUPER 36.3 -32.5 -32515 1 CEBPB CEBPG REST ZNF592 JUND CTBP1 NFIC IKZF1 HNF4A CBWD1 DOCK8 GC09M000202
GH09H000220 1.3 Ensembl ENCODE dbSUPER 32.8 -44.0 -44031 4 HDAC1 TAL1 CEBPG BMI1 FOSL1 CTBP1 GATA3 SCRT2 FOSL2 FOS CBWD1 ENSG00000235880 FOXD4 GC09M000225 C9orf66
GH09H000270 1.6 FANTOM5 ENCODE dbSUPER 23.2 -94.0 -93956 5 PKNOX1 ATF1 ARNT YY1 TCF12 ELK1 ZNF143 FOS ATF7 RUNX3 DOCK8 C9orf66 CBWD1 ENSG00000235880 WASHC1 FOXD4 GC09M000242
GH09H000213 1.2 ENCODE dbSUPER 30.2 -36.6 -36555 3 ATF1 SIN3A GLIS2 ZNF143 ATF7 REST GLIS1 MXD3 BRD4 CTCF CBWD1 WASHC1 ENSG00000235880 C9orf66 DOCK8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBWD1 on UCSC Golden Path with GeneCards custom track

Promoters for CBWD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232349 347 1600 PKNOX1 KLF1 RB1 ZEB1 GLIS2 SCRT2 ZNF143 ATF7 PRDM10 KLF8

Genomic Location for CBWD1 Gene

Chromosome:
9
Start:
121,038 bp from pter
End:
179,147 bp from pter
Size:
58,110 bases
Orientation:
Minus strand

Genomic View for CBWD1 Gene

Genes around CBWD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBWD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBWD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBWD1 Gene

Proteins for CBWD1 Gene

  • Protein details for CBWD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRT8-CBWD1_HUMAN
    Recommended name:
    COBW domain-containing protein 1
    Protein Accession:
    Q9BRT8
    Secondary Accessions:
    • A2RU55
    • A8K3N3
    • B0AZR4
    • Q49AJ1
    • Q5VVK2
    • Q6VBU6
    • Q7Z5Z0
    • Q7Z652
    • Q9BY38
    • Q9NYD0

    Protein attributes for CBWD1 Gene

    Size:
    395 amino acids
    Molecular mass:
    44068 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CBWD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBWD1 Gene

Post-translational modifications for CBWD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CBWD1 Gene

Domains & Families for CBWD1 Gene

Gene Families for CBWD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CBWD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BRT8

UniProtKB/Swiss-Prot:

CBWD1_HUMAN :
  • Belongs to the SIMIBI class G3E GTPase family. CobW subfamily.
Family:
  • Belongs to the SIMIBI class G3E GTPase family. CobW subfamily.
genes like me logo Genes that share domains with CBWD1: view

Function for CBWD1 Gene

Molecular function for CBWD1 Gene

UniProtKB/Swiss-Prot Induction:
Increased expression in response to dopamine treatment. Down-regulated by ZNF658 in response to zinc.

Phenotypes From GWAS Catalog for CBWD1 Gene

Gene Ontology (GO) - Molecular Function for CBWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CBWD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CBWD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CBWD1 Gene

Localization for CBWD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBWD1 gene
Compartment Confidence
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CBWD1 Gene

Pathways & Interactions for CBWD1 Gene

SuperPathways for CBWD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CBWD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CBWD1 Gene

Drugs & Compounds for CBWD1 Gene

No Compound Related Data Available

Transcripts for CBWD1 Gene

Unigene Clusters for CBWD1 Gene

COBW domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CBWD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CBWD1 Gene

No ASD Table

Relevant External Links for CBWD1 Gene

GeneLoc Exon Structure for
CBWD1
ECgene alternative splicing isoforms for
CBWD1

Expression for CBWD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CBWD1 Gene

Protein differential expression in normal tissues from HIPED for CBWD1 Gene

This gene is overexpressed in Pancreas (33.8), Bone (25.4), and Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CBWD1 Gene



Protein tissue co-expression partners for CBWD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CBWD1 Gene:

CBWD1

SOURCE GeneReport for Unigene cluster for CBWD1 Gene:

Hs.531330

mRNA Expression by UniProt/SwissProt for CBWD1 Gene:

Q9BRT8-CBWD1_HUMAN
Tissue specificity: Ubiquitously expressed. Up-regulated in cultured astrocytes treated with dopamine.

Evidence on tissue expression from TISSUES for CBWD1 Gene

  • Nervous system(4.8)
  • Adrenal gland(4.3)
  • Kidney(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with CBWD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBWD1 Gene

Orthologs for CBWD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBWD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBWD2 33
  • 99.16 (n)
-- 34
  • 98 (a)
ManyToMany
-- 34
  • 96 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia CBWD2 33
  • 90.1 (n)
-- 34
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CBWD2 33
  • 90.02 (n)
-- 34
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cbwd1 33 16 34
  • 84.7 (n)
rat
(Rattus norvegicus)
Mammalia Cbwd1 33
  • 82.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves CBWD1 33 34
  • 74.07 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cbwd2 33
  • 71.87 (n)
zebrafish
(Danio rerio)
Actinopterygii cbwd 33 34
  • 68.93 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8293 33
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08613g 33
  • 54.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNR029C 33
  • 52.68 (n)
-- 34
  • 32 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR044W 33
  • 49.85 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G26520 33
  • 53.4 (n)
rice
(Oryza sativa)
Liliopsida Os07g0598900 33
  • 51.11 (n)
Os.47385 33
barley
(Hordeum vulgare)
Liliopsida Hv.9552 33
wheat
(Triticum aestivum)
Liliopsida Ta.20404 33
corn
(Zea mays)
Liliopsida Zm.3533 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC15D4.05 33
  • 52.38 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11371 33
  • 50.66 (n)
Species where no ortholog for CBWD1 was found in the sources mined by GeneCards:
  • 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)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for CBWD1 Gene

ENSEMBL:
Gene Tree for CBWD1 (if available)
TreeFam:
Gene Tree for CBWD1 (if available)

Paralogs for CBWD1 Gene

Paralogs for CBWD1 Gene

(5) SIMAP similar genes for CBWD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CBWD1 Gene

genes like me logo Genes that share paralogs with CBWD1: view

Variants for CBWD1 Gene

Sequence variations from dbSNP and Humsavar for CBWD1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000017970 -- 128,734(+) TTTTT(A/G)GGGGG intron-variant, nc-transcript-variant
rs1000043326 -- 167,113(+) AAATT(G/T)CCTTC intron-variant
rs1000093532 -- 137,275(+) AAGAC(A/G/T)GCTTA intron-variant
rs1000168832 -- 136,893(+) TAAAA(A/C)ATTAG intron-variant, upstream-variant-2KB
rs1000206587 -- 176,476(+) TGTAG(C/G)CTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBWD1 Gene

Variant ID Type Subtype PubMed ID
dgv12447n54 CNV gain 21841781
dgv253e55 CNV gain 17911159
dgv254e55 CNV gain 17911159
dgv7343n100 CNV gain 25217958
dgv7344n100 CNV gain 25217958
dgv7345n100 CNV gain 25217958
dgv7346n100 CNV gain 25217958
dgv7347n100 CNV gain 25217958
dgv7348n100 CNV gain 25217958
dgv7349n100 CNV gain 25217958
dgv7350n100 CNV gain 25217958
dgv7351n100 CNV gain 25217958
esv2668459 CNV deletion 23128226
esv2674955 CNV deletion 23128226
esv2759654 CNV gain+loss 17122850
esv2764172 CNV gain+loss 21179565
esv27644 CNV gain 19812545
esv3544412 CNV deletion 23714750
esv3584900 CNV loss 24956385
esv3619169 CNV loss 21293372
esv3619171 CNV loss 21293372
esv3619172 CNV gain 21293372
esv3891501 CNV gain 25118596
esv3891507 CNV gain+loss 25118596
nsv1023234 CNV loss 25217958
nsv1032134 CNV loss 25217958
nsv1125023 CNV duplication 24896259
nsv1128982 CNV duplication 24896259
nsv1144247 CNV deletion 24896259
nsv442127 CNV gain 18776908
nsv471465 CNV gain 19718026
nsv515505 CNV gain+loss 19592680
nsv612982 CNV gain 21841781
nsv612983 CNV gain 21841781
nsv8403 CNV gain+loss 18304495
nsv972290 CNV duplication 23825009
nsv972466 CNV duplication 23825009
nsv972637 CNV duplication 23825009
nsv972638 CNV duplication 23825009
nsv982361 CNV duplication 23825009

Variation tolerance for CBWD1 Gene

Gene Damage Index Score: 3.27; 52.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBWD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBWD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBWD1 Gene

Disorders for CBWD1 Gene

Relevant External Links for CBWD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBWD1

No disorders were found for CBWD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CBWD1 Gene

Publications for CBWD1 Gene

  1. Diverse fates of paralogs following segmental duplication of telomeric genes. (PMID: 15233989) Wong A … Ledbetter DH (Genomics 2004) 2 3 4 60
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PMID: 12421752) Fan Y … Trask BJ (Genome research 2002) 2 3 60
  5. Identification of dopamine responsive mRNAs in glial cells by suppression subtractive hybridization. (PMID: 11489251) Shi J … Xie Y (Brain research 2001) 3 4 60

Products for CBWD1 Gene

Sources for CBWD1 Gene

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