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Aliases for EFHD1 Gene

Aliases for EFHD1 Gene

  • EF-Hand Domain Family Member D1 2 3 5
  • Swiprosin-2 2 3 4
  • EF-Hand Domain-Containing Protein 1 3 4
  • SWS2 3 4
  • EF-Hand Domain Family, Member D1 3
  • EF Hand Domain Containing 1 2
  • MSTP133 3
  • MST133 3
  • PP3051 3

External Ids for EFHD1 Gene

Previous GeneCards Identifiers for EFHD1 Gene

  • GC02P233700
  • GC02P233323
  • GC02P233206
  • GC02P233470
  • GC02P225321

Summaries for EFHD1 Gene

Entrez Gene Summary for EFHD1 Gene

  • EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM, Mar 2008]

GeneCards Summary for EFHD1 Gene

EFHD1 (EF-Hand Domain Family Member D1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHD2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFHD1 Gene

Genomics for EFHD1 Gene

Regulatory Elements for EFHD1 Gene

Promoters for EFHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFHD1 Gene

Chromosome:
2
Start:
232,606,057 bp from pter
End:
232,682,781 bp from pter
Size:
76,725 bases
Orientation:
Plus strand

Genomic View for EFHD1 Gene

Genes around EFHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFHD1 Gene

Proteins for EFHD1 Gene

  • Protein details for EFHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUP0-EFHD1_HUMAN
    Recommended name:
    EF-hand domain-containing protein D1
    Protein Accession:
    Q9BUP0
    Secondary Accessions:
    • B2RD83
    • E9PFH3
    • Q9BTF8
    • Q9H8I2
    • Q9HBQ0

    Protein attributes for EFHD1 Gene

    Size:
    239 amino acids
    Molecular mass:
    26928 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG17248.1; Type=Frameshift; Positions=72; Evidence={ECO:0000305};

    Alternative splice isoforms for EFHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFHD1 Gene

Proteomics data for EFHD1 Gene at MOPED

Post-translational modifications for EFHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for EFHD1 Gene

Domains & Families for EFHD1 Gene

Gene Families for EFHD1 Gene

Protein Domains for EFHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFHD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUP0

UniProtKB/Swiss-Prot:

EFHD1_HUMAN :
  • Contains 2 EF-hand domains.
Domain:
  • Contains 2 EF-hand domains.
genes like me logo Genes that share domains with EFHD1: view

Function for EFHD1 Gene

genes like me logo Genes that share phenotypes with EFHD1: view

Animal Model Products

miRNA for EFHD1 Gene

miRTarBase miRNAs that target EFHD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFHD1 Gene

Localization for EFHD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFHD1 Gene COMPARTMENTS Subcellular localization image for EFHD1 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for EFHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with EFHD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EFHD1 Gene

Pathways & Interactions for EFHD1 Gene

SuperPathways for EFHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFHD1 Gene

Drugs & Compounds for EFHD1 Gene

No Compound Related Data Available

Transcripts for EFHD1 Gene

Unigene Clusters for EFHD1 Gene

EF-hand domain family, member D1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFHD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for EFHD1 Gene

GeneLoc Exon Structure for
EFHD1
ECgene alternative splicing isoforms for
EFHD1

Expression for EFHD1 Gene

mRNA expression in normal human tissues for EFHD1 Gene

mRNA differential expression in normal tissues according to GTEx for EFHD1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4) and Artery - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for EFHD1 Gene

This gene is overexpressed in Adrenal (15.5), Liver, secretome (8.7), and Breast (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFHD1 Gene



SOURCE GeneReport for Unigene cluster for EFHD1 Gene Hs.516769

genes like me logo Genes that share expression patterns with EFHD1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for EFHD1 Gene

Orthologs for EFHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFHD1 36
  • 100 (a)
OneToOne
EFHD1 35
  • 99.72 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia EFHD1 36
  • 87 (a)
OneToOne
EFHD1 35
  • 88.42 (n)
  • 87.29 (a)
dog
(Canis familiaris)
Mammalia EFHD1 35
  • 88.65 (n)
  • 89.86 (a)
EFHD1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efhd1 16
Efhd1 35
  • 82.34 (n)
  • 81.78 (a)
Efhd1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EFHD1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efhd1 35
  • 82.34 (n)
  • 79.66 (a)
chicken
(Gallus gallus)
Aves EFHD1 35
  • 82.2 (n)
  • 84.29 (a)
EFHD1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFHD1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efhd1 35
  • 74.87 (n)
  • 78.01 (a)
zebrafish
(Danio rerio)
Actinopterygii efhd1 36
  • 66 (a)
OneToOne
efhd1 35
  • 70.63 (n)
  • 72.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10641 36
  • 53 (a)
ManyToMany
CG14861 36
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea efhd-1 36
  • 15 (a)
OneToMany
Species with no ortholog for EFHD1:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for EFHD1 Gene

ENSEMBL:
Gene Tree for EFHD1 (if available)
TreeFam:
Gene Tree for EFHD1 (if available)

Paralogs for EFHD1 Gene

Paralogs for EFHD1 Gene

(5) SIMAP similar genes for EFHD1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EFHD1: view

Variants for EFHD1 Gene

Sequence variations from dbSNP and Humsavar for EFHD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs11550699 - 232,672,415(+) TGTCA(A/G)AGGTG reference, missense
rs1477 -- 232,626,667(+) gtctg(C/T)tagtc intron-variant
rs867838 -- 232,665,860(-) CCAAC(A/G)TTTCT intron-variant
rs960142 -- 232,638,856(-) ACAAA(A/C)TCCAG intron-variant
rs871687 -- 232,624,633(+) CAGCC(A/G)AGCCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFHD1 Gene

Variant ID Type Subtype PubMed ID
nsv876000 CNV Gain 21882294
nsv876008 CNV Gain 21882294

Variation tolerance for EFHD1 Gene

Residual Variation Intolerance Score: 80.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.20; 84.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFHD1 Gene

HapMap Linkage Disequilibrium report
EFHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFHD1 Gene

Disorders for EFHD1 Gene

Relevant External Links for EFHD1

Genetic Association Database (GAD)
EFHD1
Human Genome Epidemiology (HuGE) Navigator
EFHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFHD1

No disorders were found for EFHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFHD1 Gene

Publications for EFHD1 Gene

  1. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3 48 67
  2. Fraternal twins: Swiprosin-1/EFhd2 and Swiprosin-2/EFhd1, two homologous EF-hand containing calcium binding adaptor proteins with distinct functions. (PMID: 21244694) DA1tting S. … Mielenz D. (Cell Commun. Signal 2011) 2 3
  3. Luzp4 defines a new mRNA export pathway in cancer cells. (PMID: 25662211) Viphakone N. … Wilson S.A. (Nucleic Acids Res. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients. (PMID: 24861485) Takane K. … Kaneda A. (Cancer Med 2014) 3

Products for EFHD1 Gene

Sources for EFHD1 Gene

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