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Aliases for EFCC1 Gene

Aliases for EFCC1 Gene

  • EF-Hand And Coiled-Coil Domain Containing 1 2 3
  • Coiled-Coil Domain-Containing Protein 48 3 4
  • Coiled-Coil Domain Containing 48 2 3
  • C3orf73 3 4
  • CCDC48 3 4
  • EF-Hand And Coiled-Coil Domain-Containing Protein 1 3
  • EF-Hand Domain-Containing Protein ENSP00000381169 3
  • Chromosome 3 Open Reading Frame 73 2

External Ids for EFCC1 Gene

Previous Symbols for EFCC1 Gene

  • C3orf73
  • CCDC48

Summaries for EFCC1 Gene

GeneCards Summary for EFCC1 Gene

EFCC1 (EF-Hand And Coiled-Coil Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCC1 Gene

Genomics for EFCC1 Gene

Genomic Location for EFCC1 Gene

Start:
129,001,288 bp from pter
End:
129,040,742 bp from pter
Size:
39,455 bases
Orientation:
Plus strand

Genomic View for EFCC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCC1 Gene

No data available for Regulatory Elements for EFCC1 Gene

Proteins for EFCC1 Gene

  • Protein details for EFCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HA90-EFCC1_HUMAN
    Recommended name:
    EF-hand and coiled-coil domain-containing protein 1
    Protein Accession:
    Q9HA90
    Secondary Accessions:
    • A8MYE2

    Protein attributes for EFCC1 Gene

    Size:
    598 amino acids
    Molecular mass:
    65701 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH93800.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI12196.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFCC1 Gene

Proteomics data for EFCC1 Gene at MOPED

Post-translational modifications for EFCC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFCC1 Gene

Domains for EFCC1 Gene

Gene Families for EFCC1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for EFCC1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

EFCC1_HUMAN
Domain:
  • Contains 1 EF-hand domain.:
    • Q9HA90
genes like me logo Genes that share domains with EFCC1: view

Function for EFCC1 Gene

Gene Ontology (GO) - Molecular Function for EFCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EFCC1: view

Phenotypes for EFCC1 Gene

GenomeRNAi human phenotypes for EFCC1:
genes like me logo Genes that share phenotypes with EFCC1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EFCC1 Gene

Localization for EFCC1 Gene

No data available for Gene Ontology (GO) - Cellular Components for EFCC1 Gene

Pathways for EFCC1 Gene

SuperPathways for EFCC1 Gene

No Data Available

Interacting Proteins for EFCC1 Gene

Gene Ontology (GO) - Biological Process for EFCC1 Gene

None

No data available for Pathways by source for EFCC1 Gene

Transcripts for EFCC1 Gene

mRNA/cDNA for EFCC1 Gene

(6) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFCC1 Gene

EF-hand and coiled-coil domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFCC1 Gene

No ASD Table

Relevant External Links for EFCC1 Gene

GeneLoc Exon Structure for
EFCC1
ECgene alternative splicing isoforms for
EFCC1

Expression for EFCC1 Gene

mRNA expression in normal human tissues for EFCC1 Gene

mRNA differential expression in normal tissues according to GTEx for EFCC1 Gene

This gene is overexpressed in Lung (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for EFCC1 Gene

SOURCE GeneReport for Unigene cluster for EFCC1 Gene Hs.134807

genes like me logo Genes that share expressions with EFCC1: view

Orthologs for EFCC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC48 36
  • 96.1 (n)
  • 94.81 (a)
EFCC1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFCC1 36
  • 82.88 (n)
  • 77.05 (a)
EFCC1 37
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFCC1 37
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efcc1 36
  • 77.6 (n)
  • 74.19 (a)
Efcc1 16
Efcc1 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCC1 37
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 71 (a)
OneToMany
-- 37
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Efcc1 36
  • 76.71 (n)
  • 72.02 (a)
chicken
(Gallus gallus)
Aves EFCC1 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCC1 37
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AL929022.2 37
  • 30 (a)
OneToOne
Species with no ortholog for EFCC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EFCC1 Gene

ENSEMBL:
Gene Tree for EFCC1 (if available)
TreeFam:
Gene Tree for EFCC1 (if available)

Paralogs for EFCC1 Gene

No data available for Paralogs for EFCC1 Gene

Variants for EFCC1 Gene

Sequence variations from dbSNP and Humsavar for EFCC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs395020 -- 129,025,892(+) GGAGT(C/T)ACCCA intron-variant
rs413183 -- 129,025,370(-) tcccg(C/T)ggctt intron-variant
rs419463 -- 129,022,799(+) CCCCC(A/G)TGGCT intron-variant
rs693476 -- 129,024,607(+) agggc(A/G)tgtca intron-variant
rs725132 -- 129,007,187(-) GCCGA(C/T)GTTTC intron-variant

Relevant External Links for EFCC1 Gene

HapMap Linkage Disequilibrium report
EFCC1

No data available for Structural Variations from Database of Genomic Variants (DGV) for EFCC1 Gene

Disorders for EFCC1 Gene

No disorders were found for EFCC1 Gene.

No data available for UniProtKB/Swiss-Prot for EFCC1 Gene

Publications for EFCC1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  5. The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. (PMID: 22632162) Lin C.W. … Jan M.S. (J Drug Target 2012) 3

Products for EFCC1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate EFCC1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for EFCC1
    • Block miRNA regulation of EFCC1 using miScript Target Protectors

    Sources for EFCC1 Gene

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