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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

GeneHancer (GH) Regulatory Elements for CBWD1 Gene

Promoters and enhancers for CBWD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J000178 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 663.2 +0.3 347 1.6 PKNOX1 KLF1 RB1 ZEB1 ZNF335 GLIS2 SCRT2 ZNF143 PRDM10 ATF7 CBWD1 LOC102724787
GH09J000213 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 30.3 -36.6 -36555 3.7 ATF1 SIN3A ZNF48 GLIS2 ZNF143 ZFP91 ATF7 ZNF263 REST ATF4 C9orf66 DOCK8 WASHC1 CBWD1 ENSG00000235880
GH09J000270 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.2 -94.0 -93956 5.4 PKNOX1 ATF1 ARNT YY1 TCF12 POLR2B ZNF143 FOS ATF7 RUNX3 DOCK8 ENSG00000235880 C9orf66 CBWD1 WASHC1 FOXD4 GC09M000242
GH09J000210 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE dbSUPER 36.3 -32.5 -32515 1.4 RXRA CEBPB CEBPG REST ZNF592 SP1 JUND NFIC CTBP1 IKZF1 DOCK8 GC09M000202 CBWD1
GH09J000268 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 32 -90.0 -89952 1.4 ZNF316 ZNF740 ZNF140 MAFG NFE2 EMSY CBWD1 DOCK8 WASHC1 RPL12P25 C9orf66 KANK1 ENSG00000235880 GC09P000245 GC09M000242
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBWD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CBWD1 gene promoter:
  • MRF-2
  • ATF-2
  • GATA-1
  • Cdc5
  • Pax-6
  • POU3F2
  • IRF-7A
  • c-Jun

Genomic Locations for CBWD1 Gene

Genomic Locations for CBWD1 Gene
58,110 bases
Minus strand
67,942 bases
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:
    Recommended name:
    COBW domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A2RU55
    • A8K3N3
    • B0AZR4
    • Q49AJ1
    • Q5VVK2
    • Q6VBU6
    • Q7Z5Z0
    • Q7Z652
    • Q9BY38
    • Q9NYD0

    Protein attributes for CBWD1 Gene

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

    Alternative splice isoforms for CBWD1 Gene


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



  • Belongs to the SIMIBI class G3E GTPase family. CobW subfamily.
  • 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

Clone Products

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

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


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

mRNA/cDNA for CBWD1 Gene

Unigene Clusters for CBWD1 Gene

COBW domain containing 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CBWD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, MaxQB, and MOPED for CBWD1 Gene

Protein tissue co-expression partners for CBWD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CBWD1 Gene:


SOURCE GeneReport for Unigene cluster for CBWD1 Gene:


mRNA Expression by UniProt/SwissProt for CBWD1 Gene:

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

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
(Pan troglodytes)
Mammalia CBWD2 33
  • 99.16 (n)
-- 34
  • 98 (a)
-- 34
  • 96 (a)
(Canis familiaris)
Mammalia CBWD2 33
  • 90.1 (n)
-- 34
  • 89 (a)
(Bos Taurus)
Mammalia CBWD2 33
  • 90.02 (n)
-- 34
  • 88 (a)
(Mus musculus)
Mammalia Cbwd1 16 34 33
  • 84.7 (n)
(Rattus norvegicus)
Mammalia Cbwd1 33
  • 82.44 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
(Gallus gallus)
Aves CBWD1 34 33
  • 74.07 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cbwd2 33
  • 71.87 (n)
(Danio rerio)
Actinopterygii cbwd 34 33
  • 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)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR044W 33
  • 49.85 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G26520 33
  • 53.4 (n)
(Oryza sativa)
Liliopsida Os07g0598900 33
  • 51.11 (n)
Os.47385 33
(Zea mays)
Liliopsida Zm.3533 33
(Hordeum vulgare)
Liliopsida Hv.9552 33
(Triticum aestivum)
Liliopsida Ta.20404 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

Gene Tree for CBWD1 (if available)
Gene Tree for CBWD1 (if available)
Evolutionary constrained regions (ECRs) for CBWD1: view image

Paralogs for CBWD1 Gene

Paralogs for CBWD1 Gene

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

  • F2Z2T4_HUMAN
  • F2Z3H7_HUMAN 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 Variation AA Info Type
rs1000017970 -- 128,734(-) G/A/T genic_downstream_transcript_variant, intron_variant
rs1000043326 -- 167,113(-) G/T intron_variant
rs1000093532 -- 137,275(-) G/A/T genic_downstream_transcript_variant, intron_variant
rs1000168832 -- 136,893(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000206587 -- 176,476(-) G/C genic_upstream_transcript_variant, 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)

Additional Variant Information for CBWD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for CBWD1 Gene

Additional Disease Information for 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 58
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  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 58
  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 58
  5. Identification of dopamine responsive mRNAs in glial cells by suppression subtractive hybridization. (PMID: 11489251) Shi J … Xie Y (Brain research 2001) 3 4 58

Products for CBWD1 Gene

Sources for CBWD1 Gene

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