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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
  • Cache Domain-Containing Protein 1 4
  • 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.

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

Genomics for CACHD1 Gene

Regulatory Elements for CACHD1 Gene

Enhancers for CACHD1 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
GH01F064495 0.2 ENCODE 15.6 +25.3 25266 0.1 ZFP3 CACHD1 GC01P064556
GH01F064510 0.8 Ensembl ENCODE 13.2 +43.7 43674 7.3 PKNOX1 SIN3A FEZF1 ZNF2 YY1 ZNF302 KLF7 FOS SP5 TSHZ1 CACHD1 LINC01359 SLC2A3P2 GC01P064556
GH01F064505 0.5 ENCODE 12.4 +35.2 35162 1.8 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 KLF7 ZNF263 SP3 REST CACHD1 LINC01359 GC01P064556
GH01F064497 0.5 Ensembl ENCODE 11.9 +26.9 26900 1.1 HDGF TEAD4 ZNF121 JUND EED POU5F1 ETV6 ZBTB33 ZBTB17 CACHD1 GC01P064556
GH01F064493 0.4 ENCODE 11.6 +23.2 23233 1.4 SCRT2 PBX2 TEAD4 CTBP2 CACHD1 GC01P064556
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CACHD1 on UCSC Golden Path with GeneCards custom track

Promoters for CACHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001580772 608 3601 PKNOX1 SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 KLF7 ZNF263

Genomic Location for CACHD1 Gene

Chromosome:
1
Start:
64,470,792 bp from pter
End:
64,693,058 bp from pter
Size:
222,267 bases
Orientation:
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:
    Q5VU97-CAHD1_HUMAN
    Recommended name:
    VWFA and cache domain-containing protein 1
    Protein Accession:
    Q5VU97
    Secondary Accessions:
    • Q49AE9
    • Q658T4
    • Q7Z3P2
    • Q9H7W4
    • Q9H9W3
    • Q9HCJ9

    Protein attributes for CACHD1 Gene

    Size:
    1274 amino acids
    Molecular mass:
    142290 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CACHD1 Gene

Post-translational modifications for CACHD1 Gene

  • Glycosylation at Asn 145
  • 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

Protein Domains for CACHD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CACHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VU97

UniProtKB/Swiss-Prot:

CAHD1_HUMAN :
  • Contains 2 cache domains.
  • Belongs to the calcium channel subunit alpha-2/delta family.
Domain:
  • Contains 2 cache domains.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the calcium channel subunit alpha-2/delta family.
genes like me logo Genes that share domains with CACHD1: view

No data available for Gene Families for CACHD1 Gene

Function for CACHD1 Gene

Molecular function for CACHD1 Gene

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

Phenotypes for CACHD1 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for CACHD1 Gene COMPARTMENTS Subcellular localization image for CACHD1 gene
Compartment Confidence
nucleus 2
cytosol 1

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 Nutra 0
genes like me logo Genes that share compounds with CACHD1: view

Transcripts for CACHD1 Gene

Unigene Clusters for CACHD1 Gene

Cache domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - -
SP4:
SP5:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CACHD1 Gene

GeneLoc Exon Structure for
CACHD1
ECgene alternative splicing isoforms for
CACHD1

Expression for CACHD1 Gene

mRNA expression in normal human tissues 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:

CACHD1

SOURCE GeneReport for Unigene cluster for CACHD1 Gene:

Hs.443891
genes like me logo Genes that share expression patterns with CACHD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CACHD1 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia CACHD1 34 35
  • 92.62 (n)
cow
(Bos Taurus)
Mammalia CACHD1 34 35
  • 92.45 (n)
oppossum
(Monodelphis domestica)
Mammalia CACHD1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cachd1 34
  • 89.92 (n)
mouse
(Mus musculus)
Mammalia Cachd1 34 16 35
  • 89.62 (n)
chicken
(Gallus gallus)
Aves CACHD1 34 35
  • 82.61 (n)
lizard
(Anolis carolinensis)
Reptilia CACHD1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cachd1 34
  • 78.39 (n)
Str.2042 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10935 34
zebrafish
(Danio rerio)
Actinopterygii cachd1 34 35
  • 75.99 (n)
Dr.15338 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009043 34
  • 48.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16868 34 35
  • 47.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
-- 35
  • 30 (a)
OneToMany
-- 35
  • 29 (a)
OneToMany
-- 35
  • 24 (a)
OneToMany
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

ENSEMBL:
Gene Tree for CACHD1 (if available)
TreeFam:
Gene Tree for CACHD1 (if available)

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 Sequence Context AA Info Type
rs10157945 -- 64,554,193(+) tctgg(A/C)taatt intron-variant
rs10158495 -- 64,632,254(+) TTTTT(C/T)TGAAA intron-variant
rs10158570 -- 64,603,080(+) AAGAA(A/G)AAAAA intron-variant
rs10158610 -- 64,554,002(+) atagc(C/T)gacat intron-variant
rs10158692 -- 64,603,374(+) gctga(A/G)attac 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)

Relevant External Links for CACHD1 Gene

Human Gene Mutation Database (HGMD)
CACHD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACHD1

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

Disorders for CACHD1 Gene

Relevant External Links for CACHD1

Genetic Association Database (GAD)
CACHD1
Human Genome Epidemiology (HuGE) Navigator
CACHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACHD1

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 Res. 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for CACHD1 Gene

Sources for CACHD1 Gene

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