Aliases for CACFD1 Gene

Aliases for CACFD1 Gene

  • Calcium Channel Flower Domain Containing 1 2 3 5
  • Calcium Channel Flower Domain-Containing Protein 1 3 4
  • Calcium Channel Flower Homolog 3 4
  • D9S2135 2 3
  • C9orf7 3 4
  • Chromosome 9 Open Reading Frame 7 2
  • FLOWER 3
  • CACFD1 5
  • Flower 2

External Ids for CACFD1 Gene

Previous HGNC Symbols for CACFD1 Gene

  • C9orf7

Previous GeneCards Identifiers for CACFD1 Gene

  • GC09P136326

Summaries for CACFD1 Gene

GeneCards Summary for CACFD1 Gene

CACFD1 (Calcium Channel Flower Domain Containing 1) is a Protein Coding gene. Diseases associated with CACFD1 include Carey-Fineman-Ziter Syndrome and Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset. Among its related pathways are Transmission across Chemical Synapses and nNOS Signaling in Skeletal Muscle. Gene Ontology (GO) annotations related to this gene include calcium channel activity.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACFD1 Gene

Genomics for CACFD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACFD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACFD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACFD1

Genomic Locations for CACFD1 Gene

Genomic Locations for CACFD1 Gene
chr9:133,459,965-133,470,848
(GRCh38/hg38)
Size:
10,884 bases
Orientation:
Plus strand
chr9:136,325,087-136,335,970
(GRCh37/hg19)
Size:
10,884 bases
Orientation:
Plus strand

Genomic View for CACFD1 Gene

Genes around CACFD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACFD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACFD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACFD1 Gene

Proteins for CACFD1 Gene

  • Protein details for CACFD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGQ2-FLOWR_HUMAN
    Recommended name:
    Calcium channel flower homolog
    Protein Accession:
    Q9UGQ2
    Secondary Accessions:
    • B7Z3T8
    • B7Z5E1
    • F5GXX4
    • Q5SXD4
    • Q8NBM6

    Protein attributes for CACFD1 Gene

    Size:
    172 amino acids
    Molecular mass:
    18470 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CACFD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACFD1 Gene

Post-translational modifications for CACFD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CACFD1 Gene

Domains & Families for CACFD1 Gene

Gene Families for CACFD1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for CACFD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CACFD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52997 (B7Z5E1_HUMAN)
  • cDNA FLJ54245 (B7Z969_HUMAN)
  • Calcium channel flower homolog (FLOWR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UGQ2

UniProtKB/Swiss-Prot:

FLOWR_HUMAN :
  • Belongs to the calcium channel flower family.
Family:
  • Belongs to the calcium channel flower family.
genes like me logo Genes that share domains with CACFD1: view

Function for CACFD1 Gene

Phenotypes From GWAS Catalog for CACFD1 Gene

Gene Ontology (GO) - Molecular Function for CACFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with CACFD1: view
genes like me logo Genes that share phenotypes with CACFD1: view

Animal Models for CACFD1 Gene

MGI Knock Outs for CACFD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACFD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACFD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACFD1 Gene

Localization for CACFD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACFD1 Gene

Membrane. Multi-pass membrane protein.

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 CACFD1 gene
Compartment Confidence
plasma membrane 3
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CACFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACFD1: view

Pathways & Interactions for CACFD1 Gene

genes like me logo Genes that share pathways with CACFD1: view

Gene Ontology (GO) - Biological Process for CACFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016192 vesicle-mediated transport IBA 21873635
genes like me logo Genes that share ontologies with CACFD1: view

No data available for SIGNOR curated interactions for CACFD1 Gene

Drugs & Compounds for CACFD1 Gene

No Compound Related Data Available

Transcripts for CACFD1 Gene

mRNA/cDNA for CACFD1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACFD1

Alternative Splicing Database (ASD) splice patterns (SP) for CACFD1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e · 10f
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - -
SP7: - - - - -
SP8:
SP9: - - - - - - - - - - -
SP10: - - - - -
SP11: - - - -
SP12: - - -

Relevant External Links for CACFD1 Gene

GeneLoc Exon Structure for
CACFD1

Expression for CACFD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACFD1 Gene

mRNA differential expression in normal tissues according to GTEx for CACFD1 Gene

This gene is overexpressed in Liver (x4.6).

Protein differential expression in normal tissues from HIPED for CACFD1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (35.6), Liver (22.7), and Testis (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACFD1 Gene



Protein tissue co-expression partners for CACFD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACFD1

SOURCE GeneReport for Unigene cluster for CACFD1 Gene:

Hs.62003

Evidence on tissue expression from TISSUES for CACFD1 Gene

  • Nervous system(4.8)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with CACFD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CACFD1 Gene

Orthologs for CACFD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACFD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CACFD1 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CACFD1 30
  • 86.75 (n)
MGC139698 31
  • 77 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CACFD1 30 31
  • 81.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacfd1 30
  • 79.63 (n)
Mouse
(Mus musculus)
Mammalia Cacfd1 30 17 31
  • 78.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACFD1 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CACFD1 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C17H9ORF7 30 31
  • 69.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACFD1 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacfd1 30
  • 70.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68663 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch73-209e20.5 30
  • 65.99 (n)
CACFD1 31
  • 55 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4696 30
Fruit Fly
(Drosophila melanogaster)
Insecta fwe 31
  • 27 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F20D1.1 31
  • 30 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3337 31
  • 31 (a)
OneToOne
Species where no ortholog for CACFD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for CACFD1 Gene

ENSEMBL:
Gene Tree for CACFD1 (if available)
TreeFam:
Gene Tree for CACFD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACFD1: view image

Paralogs for CACFD1 Gene

No data available for Paralogs for CACFD1 Gene

Variants for CACFD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACFD1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs3124765 - p.Ile58Met

Additional dbSNP identifiers (rs#s) for CACFD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CACFD1 Gene

Variant ID Type Subtype PubMed ID
dgv1243n67 CNV gain 20364138
esv2739138 CNV deletion 23290073
nsv1125319 OTHER inversion 24896259

Variation tolerance for CACFD1 Gene

Gene Damage Index Score: 1.55; 29.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACFD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACFD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACFD1 Gene

Disorders for CACFD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CACFD1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CACFD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACFD1 Gene

Publications for CACFD1 Gene

  1. A synaptic vesicle-associated Ca2+ channel promotes endocytosis and couples exocytosis to endocytosis. (PMID: 19737521) Yao CK … Bellen HJ (Cell 2009) 2 3
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for CACFD1 Gene

Sources for CACFD1 Gene