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Aliases for CACHD1 Gene

Aliases for CACHD1 Gene

  • Cache Domain Containing 1 2 3 5
  • Von Willebrand Factor Type A And Cache Domain Containing 1 2 3
  • Cache Domain-Containing Protein 1 3 4
  • VWFA And Cache Domain-Containing Protein 1 3
  • KIAA1573 4
  • VWCD1 4

External Ids for CACHD1 Gene

Previous HGNC Symbols for CACHD1 Gene

  • VWCD1

Previous GeneCards Identifiers for CACHD1 Gene

  • GC01P064685
  • GC01P064936
  • GC01P063045

Summaries for CACHD1 Gene

GeneCards Summary for CACHD1 Gene

CACHD1 (Cache Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is CACNA2D4.

UniProtKB/Swiss-Prot for CACHD1 Gene

  • May regulate voltage-dependent calcium channels.

Additional gene information for CACHD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACHD1 Gene

Genomics for CACHD1 Gene

GeneHancer (GH) Regulatory Elements for CACHD1 Gene

Promoters and enhancers for CACHD1 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
GH01J064469 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 657.9 +2.7 2702 8 PKNOX1 FOXA2 ARNT SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 CACHD1 ITGB3BP EFCAB7 GC01P064556
GH01J064505 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 662.4 +35.2 35161 1.8 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 KLF7 FOS KLF13 CACHD1 ITGB3BP LINC01359 GC01P064556
GH01J064470 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.5 -1509 0.1 SCRT1 SCRT2 PRDM10 CACHD1 RNU7-62P
GH01J064538 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.7 +69.3 69334 3.5 PKNOX1 FOXA2 ZSCAN4 MZF1 RAD21 PATZ1 ZSCAN5C PRDM10 ZNF600 ZBTB20 CACHD1 GC01P064556
GH01J064516 Enhancer 0.8 ENCODE dbSUPER 13.2 +46.4 46378 1.9 ZNF639 JUN INSM2 ZIC2 ZNF843 OSR2 ZNF664 JUND ZNF692 ZNF629 CACHD1 GC01P064556
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACHD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACHD1 gene promoter:
  • Nkx2-5
  • NF-1
  • S8
  • MZF-1
  • Pax-2
  • Pax-2a
  • GATA-2
  • C/EBPalpha

Genomic Locations for CACHD1 Gene

Genomic Locations for CACHD1 Gene
222,267 bases
Plus strand
222,314 bases
Plus strand

Genomic View for CACHD1 Gene

Genes around CACHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACHD1 Gene

Proteins for CACHD1 Gene

  • Protein details for CACHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    VWFA and cache domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q49AE9
    • Q658T4
    • Q7Z3P2
    • Q9H7W4
    • Q9H9W3
    • Q9HCJ9

    Protein attributes for CACHD1 Gene

    1274 amino acids
    Molecular mass:
    142290 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB14105.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14860.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70309.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI22137.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CACHD1 Gene


neXtProt entry for CACHD1 Gene

Post-translational modifications for CACHD1 Gene

  • Glycosylation at Asn145
  • Modification sites at PhosphoSitePlus

Other Protein References for CACHD1 Gene

No data available for DME Specific Peptides for CACHD1 Gene

Domains & Families for CACHD1 Gene

Gene Families for CACHD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CACHD1 Gene

Suggested Antigen Peptide Sequences for CACHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the calcium channel subunit alpha-2/delta family.
  • Belongs to the calcium channel subunit alpha-2/delta family.
genes like me logo Genes that share domains with CACHD1: view

Function for CACHD1 Gene

Molecular function for CACHD1 Gene

UniProtKB/Swiss-Prot Function:
May regulate voltage-dependent calcium channels.

Phenotypes From GWAS Catalog for CACHD1 Gene

genes like me logo Genes that share phenotypes with CACHD1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CACHD1 Gene

Localization for CACHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACHD1 Gene

Membrane; Single-pass type I membrane protein.

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 CACHD1 gene
Compartment Confidence
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CACHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACHD1: view

Pathways & Interactions for CACHD1 Gene

SuperPathways for CACHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CACHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with CACHD1: view

No data available for Pathways by source and SIGNOR curated interactions for CACHD1 Gene

Drugs & Compounds for CACHD1 Gene

(1) Drugs for CACHD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with CACHD1: view

Transcripts for CACHD1 Gene

mRNA/cDNA for CACHD1 Gene

Unigene Clusters for CACHD1 Gene

Cache domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACHD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: -
SP2: - -
SP3: - -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28

Relevant External Links for CACHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CACHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CACHD1 Gene

This gene is overexpressed in CD4 Tcells (23.7) and Liver (23.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CACHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACHD1 Gene:


SOURCE GeneReport for Unigene cluster for CACHD1 Gene:


Evidence on tissue expression from TISSUES for CACHD1 Gene

  • Nervous system(4.4)
  • Stomach(4.1)
genes like me logo Genes that share expression patterns with CACHD1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CACHD1 Gene

Orthologs for CACHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CACHD1 34 33
  • 99.67 (n)
(Canis familiaris)
Mammalia CACHD1 34 33
  • 92.62 (n)
(Bos Taurus)
Mammalia CACHD1 34 33
  • 92.45 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
-- 34
  • 77 (a)
(Monodelphis domestica)
Mammalia CACHD1 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Cachd1 33
  • 89.92 (n)
(Mus musculus)
Mammalia Cachd1 16 34 33
  • 89.62 (n)
(Gallus gallus)
Aves CACHD1 34 33
  • 82.61 (n)
(Anolis carolinensis)
Reptilia CACHD1 34
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cachd1 33
  • 78.39 (n)
Str.2042 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10935 33
(Danio rerio)
Actinopterygii cachd1 34 33
  • 75.99 (n)
Dr.15338 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009043 33
  • 48.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16868 34 33
  • 47.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
-- 34
  • 41 (a)
-- 34
  • 30 (a)
-- 34
  • 29 (a)
-- 34
  • 24 (a)
Species where no ortholog for CACHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACHD1 Gene

Gene Tree for CACHD1 (if available)
Gene Tree for CACHD1 (if available)
Evolutionary constrained regions (ECRs) for CACHD1: view image

Paralogs for CACHD1 Gene

Paralogs for CACHD1 Gene

genes like me logo Genes that share paralogs with CACHD1: view

Variants for CACHD1 Gene

Sequence variations from dbSNP and Humsavar for CACHD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000002556 -- 64,593,408(+) A/G intron_variant
rs1000019579 -- 64,637,245(+) G/A intron_variant
rs1000021015 -- 64,621,515(+) A/C/G intron_variant
rs1000055937 -- 64,586,518(+) C/T intron_variant
rs1000063171 -- 64,681,142(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CACHD1 Gene

Variant ID Type Subtype PubMed ID
esv1280177 CNV insertion 17803354
esv1980143 CNV deletion 18987734
esv2660804 CNV deletion 23128226
esv2667664 CNV deletion 23128226
esv2749152 CNV deletion 23290073
esv3303888 CNV mobile element insertion 20981092
esv3309582 CNV mobile element insertion 20981092
esv3410076 CNV insertion 20981092
esv3586265 CNV loss 21293372
esv3586268 CNV loss 21293372
esv3586269 CNV loss 21293372
nsv1000188 CNV gain 25217958
nsv1077372 CNV deletion 25765185
nsv1119693 CNV deletion 24896259
nsv1122355 CNV deletion 24896259
nsv1136083 CNV deletion 24896259
nsv1139480 CNV duplication 24896259
nsv1153414 CNV deletion 26484159
nsv471992 CNV novel sequence insertion 20440878
nsv508237 CNV deletion 20534489
nsv522029 CNV loss 19592680
nsv546437 CNV loss 21841781
nsv830048 CNV gain 17160897

Variation tolerance for CACHD1 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACHD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACHD1 Gene

Disorders for CACHD1 Gene

Additional Disease Information for CACHD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CACHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACHD1 Gene

Publications for CACHD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58

Products for CACHD1 Gene

Sources for CACHD1 Gene

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