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Aliases for EFCAB1 Gene

Aliases for EFCAB1 Gene

  • EF-Hand Calcium Binding Domain 1 2 3 5

External Ids for EFCAB1 Gene

Previous GeneCards Identifiers for EFCAB1 Gene

  • GC08M049799
  • GC08M049627
  • GC08M045091

Summaries for EFCAB1 Gene

GeneCards Summary for EFCAB1 Gene

EFCAB1 (EF-Hand Calcium Binding Domain 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for EFCAB1 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 EFCAB1 Gene

Genomics for EFCAB1 Gene

GeneHancer (GH) Regulatory Elements for EFCAB1 Gene

Promoters and enhancers for EFCAB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I048734 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 587.6 -0.1 -74 1.1 MXI1 FOXA2 RXRA MAX RAD21 YY1 JUND ATF3 ZBTB33 HNF4A EFCAB1 LOC105375825
GH08I048901 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 13.1 -168.2 -168239 4.2 ELF3 CTCF TFAP4 RXRA HLF RAD21 YY1 ATF3 HNF4G SMAD4 EFCAB1 RNU6-295P SNAI2 PPDPFL ENSG00000233109 GC08P048786
GH08I048695 Enhancer 0.6 ENCODE dbSUPER 24.1 +39.2 39177 2.1 CTCF ZNF143 ZBTB33 EFCAB1 LOC101929268 ENSG00000253892
GH08I048708 Enhancer 0.6 ENCODE dbSUPER 23.5 +25.9 25869 2.1 ZNF263 ZBTB33 EFCAB1 ENSG00000253892
GH08I048755 Enhancer 0.7 Ensembl ENCODE 17.4 -21.9 -21890 3.1 CTCF PKNOX1 MNT REST EFCAB1 LOC105375825
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFCAB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB1 gene promoter:

Genomic Locations for EFCAB1 Gene

Genomic Locations for EFCAB1 Gene
chr8:48,710,789-48,735,311
(GRCh38/hg38)
Size:
24,523 bases
Orientation:
Minus strand
chr8:49,623,348-49,647,870
(GRCh37/hg19)

Genomic View for EFCAB1 Gene

Genes around EFCAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB1 Gene

Proteins for EFCAB1 Gene

  • Protein details for EFCAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAE3-EFCB1_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 1
    Protein Accession:
    Q9HAE3
    Secondary Accessions:
    • B4DSB4
    • E7EVN7

    Protein attributes for EFCAB1 Gene

    Size:
    211 amino acids
    Molecular mass:
    24488 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EFCAB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFCAB1 Gene

Post-translational modifications for EFCAB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB1 Gene

Domains & Families for EFCAB1 Gene

Gene Families for EFCAB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFCAB1 Gene

Suggested Antigen Peptide Sequences for EFCAB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB1: view

No data available for UniProtKB/Swiss-Prot for EFCAB1 Gene

Function for EFCAB1 Gene

Phenotypes From GWAS Catalog for EFCAB1 Gene

Gene Ontology (GO) - Molecular Function for EFCAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EFCAB1: view
genes like me logo Genes that share phenotypes with EFCAB1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFCAB1 Gene

Localization for EFCAB1 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 EFCAB1 gene
Compartment Confidence
cytosol 3
extracellular 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB1 Gene

Pathways & Interactions for EFCAB1 Gene

SuperPathways for EFCAB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFCAB1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB1 Gene

Drugs & Compounds for EFCAB1 Gene

No Compound Related Data Available

Transcripts for EFCAB1 Gene

Unigene Clusters for EFCAB1 Gene

EF-hand calcium binding domain 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c ^ 8
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - -
SP6: - - - - - - - -
SP7:

Relevant External Links for EFCAB1 Gene

GeneLoc Exon Structure for
EFCAB1
ECgene alternative splicing isoforms for
EFCAB1

Expression for EFCAB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFCAB1 Gene

This gene is overexpressed in Fallopian Tube (x6.2) and Testis (x5.3).

Protein differential expression in normal tissues from HIPED for EFCAB1 Gene

This gene is overexpressed in Heart (51.3) and Colon muscle (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFCAB1 Gene



Protein tissue co-expression partners for EFCAB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFCAB1 Gene:

EFCAB1

SOURCE GeneReport for Unigene cluster for EFCAB1 Gene:

Hs.23245

Evidence on tissue expression from TISSUES for EFCAB1 Gene

  • Lung(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with EFCAB1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB1 Gene

Orthologs for EFCAB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFCAB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB1 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia EFCAB1 33 34
  • 91.31 (n)
mouse
(Mus musculus)
Mammalia Efcab1 33 16 34
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia Efcab1 33
  • 88.73 (n)
cow
(Bos Taurus)
Mammalia EFCAB1 33 34
  • 85.62 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB1 33 34
  • 68.43 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab1 33
  • 67.95 (n)
Str.10083 33
zebrafish
(Danio rerio)
Actinopterygii efcab1 33 34
  • 65.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000277 33
  • 53.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2256 33 34
  • 50.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1536 34
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5020 33
Species where no ortholog for EFCAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 EFCAB1 Gene

ENSEMBL:
Gene Tree for EFCAB1 (if available)
TreeFam:
Gene Tree for EFCAB1 (if available)

Paralogs for EFCAB1 Gene

(4) SIMAP similar genes for EFCAB1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for EFCAB1 Gene

genes like me logo Genes that share paralogs with EFCAB1: view

No data available for Paralogs for EFCAB1 Gene

Variants for EFCAB1 Gene

Sequence variations from dbSNP and Humsavar for EFCAB1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000343543 -- 48,733,693(-) C/A intron_variant
rs1000520658 -- 48,715,760(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000526487 -- 48,717,532(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000637886 -- 48,734,400(-) C/T intron_variant
rs1000715677 -- 48,727,813(-) A/C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB1 Gene

Variant ID Type Subtype PubMed ID
esv2615769 CNV deletion 19546169
nsv1109969 CNV deletion 24896259

Variation tolerance for EFCAB1 Gene

Residual Variation Intolerance Score: 32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB1 Gene

Disorders for EFCAB1 Gene

Additional Disease Information for EFCAB1

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

No disorders were found for EFCAB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB1 Gene

Publications for EFCAB1 Gene

  1. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 44 58
  2. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PMID: 20479155) Takeuchi F … Kato N (Circulation 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for EFCAB1 Gene

Sources for EFCAB1 Gene

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