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Aliases for EFCC1 Gene

Aliases for EFCC1 Gene

  • EF-Hand And Coiled-Coil Domain Containing 1 2 3 5
  • 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 HGNC Symbols for EFCC1 Gene

  • C3orf73
  • CCDC48

Previous GeneCards Identifiers for EFCC1 Gene

  • GC03P128854
  • GC03P128937
  • GC03P129058
  • GC03P129135
  • GC03P129184
  • GC03P129273
  • GC03P129359
  • GC03P129441
  • GC03P129533
  • GC03P129630
  • GC03P129716

Summaries for EFCC1 Gene

GeneCards Summary for EFCC1 Gene

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

Additional gene information for EFCC1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for EFCC1 Gene

Promoters and enhancers for EFCC1 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
GH03J129000 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 655.7 +1.1 1134 3.6 PKNOX1 SIN3A RAD21 ZNF48 ZNF335 GLIS2 SCRT2 EGR2 SMARCA5 SP3 EFCC1 KIAA1257 ACAD9 LOC653712 ENSG00000261159 PIR62024
GH03J129024 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 19.5 +25.1 25124 2.9 CLOCK ATF1 SIN3A POLR2B GLIS2 ELK1 ZNF207 ZNF143 FOS ATF7 KIAA1257 EFCC1 GP9 CNBP RAB43 PIR62024
GH03J129116 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +118.8 118828 7.9 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 RAB43 KIAA1257 ISY1 GP9 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03J128877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -121.7 -121699 3.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ACAD9 PIR50406 ENSG00000244932 RPL32P3 ISY1 H1FX LOC653712 H1FX-AS1 MBD4 RPS15AP16
GH03J128407 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -588.1 -588124 10.7 HDGF PKNOX1 SMAD1 ARNT POLR2B ZNF766 FOS DEK REST SMARCB1 GATA2 DNAJB8 ENSG00000244932 RPL32P3 H1FX-AS1 TPRA1 DNAJB8-AS1 EFCC1 EEFSEC LINC01565
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EFCC1 Gene

Genomic Locations for EFCC1 Gene
39,492 bases
Plus strand
39,114 bases
Plus strand

Genomic View for EFCC1 Gene

Genes around EFCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCC1 Gene

Proteins for EFCC1 Gene

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

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

    Protein attributes for EFCC1 Gene

    598 amino acids
    Molecular mass:
    65701 Da
    Quaternary structure:
    No Data Available
    • 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


neXtProt entry for EFCC1 Gene

Post-translational modifications for EFCC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCC1 Gene

No data available for DME Specific Peptides for EFCC1 Gene

Domains & Families for EFCC1 Gene

Gene Families for EFCC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCC1 Gene


Suggested Antigen Peptide Sequences for EFCC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCC1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCC1 Gene

Localization for EFCC1 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 EFCC1 gene
Compartment Confidence
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for EFCC1 Gene

Pathways & Interactions for EFCC1 Gene

SuperPathways for EFCC1 Gene

No Data Available

Interacting Proteins for EFCC1 Gene

Selected Interacting proteins: Q9HA90-EFCC1_HUMAN for EFCC1 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for EFCC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for EFCC1 Gene

Drugs & Compounds for EFCC1 Gene

No Compound Related Data Available

Transcripts for EFCC1 Gene

mRNA/cDNA for EFCC1 Gene

(5) 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCC1

Clone Products

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

No ASD Table

Relevant External Links for EFCC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EFCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCC1 Gene

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

This gene is overexpressed in Lung (x4.1).

Protein differential expression in normal tissues from HIPED for EFCC1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCC1 Gene

Protein tissue co-expression partners for EFCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFCC1 Gene:


SOURCE GeneReport for Unigene cluster for EFCC1 Gene:


Evidence on tissue expression from TISSUES for EFCC1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with EFCC1: view

Primer Products

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 EFCC1 Gene

Orthologs for EFCC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EFCC1 34
  • 98 (a)
CCDC48 33
  • 96.1 (n)
(Bos Taurus)
Mammalia EFCC1 34 33
  • 82.88 (n)
(Mus musculus)
Mammalia Efcc1 16 34 33
  • 77.6 (n)
(Rattus norvegicus)
Mammalia Efcc1 33
  • 76.71 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
-- 34
  • 58 (a)
(Canis familiaris)
Mammalia EFCC1 34
  • 69 (a)
(Monodelphis domestica)
Mammalia EFCC1 34
  • 49 (a)
(Gallus gallus)
Aves EFCC1 34
  • 48 (a)
(Anolis carolinensis)
Reptilia EFCC1 34
  • 42 (a)
(Danio rerio)
Actinopterygii AL929022.2 34
  • 30 (a)
Species where no ortholog for EFCC1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for EFCC1 (if available)
Gene Tree for EFCC1 (if available)
Evolutionary constrained regions (ECRs) for EFCC1: view image

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 Variation AA Info Type
rs1000019125 -- 129,002,914(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000029659 -- 129,033,792(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000099676 -- 129,032,467(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000213318 -- 129,015,607(+) C/T intron_variant
rs1000245625 -- 129,026,466(+) C/G 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EFCC1 Gene

Variant ID Type Subtype PubMed ID
esv3597730 CNV gain 21293372
esv3597731 CNV gain 21293372
esv3597732 CNV loss 21293372
esv990629 CNV deletion 20482838
nsv519919 CNV loss 19592680
nsv591650 CNV loss 21841781
nsv997717 CNV loss 25217958

Variation tolerance for EFCC1 Gene

Gene Damage Index Score: 12.54; 94.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCC1 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 EFCC1 Gene

Disorders for EFCC1 Gene

Additional Disease Information for EFCC1

No disorders were found for EFCC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCC1 Gene

Publications for EFCC1 Gene

  1. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 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. The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. (PMID: 22632162) Lin CW … Jan MS (Journal of drug targeting 2012) 3 58
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 58

Products for EFCC1 Gene

Sources for EFCC1 Gene

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