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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

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

Regulatory Elements for EFCC1 Gene

Enhancers for EFCC1 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
GH03F129024 1.2 Ensembl ENCODE 19.4 +25.1 25125 2.9 ATF1 CREB3L1 SIN3A GLIS2 ZNF143 ZNF207 FOS ZNF263 NFYC REST EFCC1 GP9 CNBP RAB43 KIAA1257 PIR62024
GH03F129116 1.6 FANTOM5 Ensembl ENCODE 10.7 +118.8 118829 7.9 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SP3 SP5 MXD4 KIAA1257 ISY1 GP9 RAB43 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03F129050 1.3 Ensembl ENCODE 11.2 +52.1 52053 4.7 ARNT ARID4B ZNF2 YY1 GLIS2 GATA2 FOS DEK SP5 NCOA1 KIAA1257 ISY1 EFCC1 RAB43 CNBP RAB7A RPL32P3 GP9 LOC100130760
GH03F129068 0.9 Ensembl ENCODE 11 +67.4 67432 1.0 CTCF TAF1 NFYC CEBPG DPF2 FOSL1 JUND GATA3 MYNN HMBOX1 KIAA1257 EFCC1 RAB43 RPL32P3 GC03M129069 PIR45850 PIR33900
GH03F129004 1.1 Ensembl ENCODE 5.6 +4.3 4303 1.7 ELF3 HDAC1 ARID4B GATA2 SP5 PPARG KAT8 RAD51 IKZF1 RCOR2 EFCC1 PIR62024
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFCC1 on UCSC Golden Path with GeneCards custom track

Promoters for EFCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001852182 449 1001 MAZ SP3 RNF2 SUZ12 TEAD4 CBX2 SP2 ZIC2 ZFHX2 HDAC2

Genomic Location for EFCC1 Gene

Chromosome:
3
Start:
129,001,251 bp from pter
End:
129,040,742 bp from pter
Size:
39,492 bases
Orientation:
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:
    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

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

Protein Domains for EFCC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFCC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HA90

UniProtKB/Swiss-Prot:

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for EFCC1 Gene

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 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 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
CRYBB3
CUL1

Gene Ontology (GO) - Biological Process for EFCC1 Gene

None

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

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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and 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:

EFCC1

SOURCE GeneReport for Unigene cluster for EFCC1 Gene:

Hs.134807
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 and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia EFCC1 35
  • 98 (a)
OneToOne
CCDC48 34
  • 96.1 (n)
cow
(Bos Taurus)
Mammalia EFCC1 34 35
  • 82.88 (n)
mouse
(Mus musculus)
Mammalia Efcc1 34 16 35
  • 77.6 (n)
rat
(Rattus norvegicus)
Mammalia Efcc1 34
  • 76.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia EFCC1 35
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFCC1 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCC1 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCC1 35
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AL929022.2 35
  • 30 (a)
OneToOne
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

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
rs10512717 -- 129,007,848(+) CCTTG(C/T)GTTGT intron-variant
rs10676329 -- 129,021,622(+) TTGTA(-/CTC)CTGTG intron-variant
rs1077332 -- 129,000,587(+) TCACT(A/G)CACCC intron-variant, upstream-variant-2KB
rs1079274 -- 129,008,473(-) CTATG(A/G)GAAGC intron-variant
rs111306084 -- 129,030,908(+) CCCTC(C/T)GGCTG intron-variant, downstream-variant-500B

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)

Relevant External Links for EFCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCC1 Gene

Disorders for EFCC1 Gene

Relevant External Links for EFCC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.M. … Gibbs R.A. (Nature 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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 64
  4. 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 64
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3 64

Products for EFCC1 Gene

Sources for EFCC1 Gene

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