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Aliases for ANKEF1 Gene

Aliases for ANKEF1 Gene

  • Ankyrin Repeat And EF-Hand Domain Containing 1 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 5 3 4
  • ANKRD5 3 4
  • Ankyrin Repeat And EF-Hand Domain-Containing Protein 1 3
  • Ankyrin Repeat Domain 5 2

External Ids for ANKEF1 Gene

Previous HGNC Symbols for ANKEF1 Gene

  • ANKRD5

Previous GeneCards Identifiers for ANKEF1 Gene

  • GC20P010016

Summaries for ANKEF1 Gene

GeneCards Summary for ANKEF1 Gene

ANKEF1 (Ankyrin Repeat And EF-Hand Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ANKRA2.

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 ANKEF1 Gene

Genomics for ANKEF1 Gene

Regulatory Elements for ANKEF1 Gene

Enhancers for ANKEF1 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
GH20F010080 0.7 ENCODE 23 +94.1 94092 0.3 HLF ZNF341 CEBPB TRIM28 ANKEF1 GC20M010116 ENSG00000276525
GH20F010074 1 Ensembl ENCODE 19.5 +90.5 90505 4.8 SOX13 CTCF MXI1 JUN TEAD4 SIN3A MAX ZNF384 EBF1 RAD21 ANKEF1 SNAP25-AS1 GC20M010116 ENSG00000276525
GH20F010034 0.6 ENCODE 13.2 +49.1 49084 1.6 ATF1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 ELK1 ANKEF1 ENSG00000276525 GC20M010116
GH20F010060 0.6 Ensembl 11.1 +74.4 74375 0.2 OSR2 SMARCA4 ZNF341 ETV6 FOXP2 EBF1 TRIM28 ANKEF1 SNAP25-AS1 ENSG00000276525 GC20M010116
GH20F010090 0.5 ENCODE 8.8 +104.6 104622 0.2 CTCF ZNF654 ZNF143 SMC3 REST RAD21 THAP11 ANKEF1 GC20M010116 ENSG00000276525
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ANKEF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKEF1 Gene

Chromosome:
20
Start:
9,986,126 bp from pter
End:
10,058,303 bp from pter
Size:
72,178 bases
Orientation:
Plus strand

Genomic View for ANKEF1 Gene

Genes around ANKEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKEF1 Gene

Proteins for ANKEF1 Gene

  • Protein details for ANKEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NU02-ANKE1_HUMAN
    Recommended name:
    Ankyrin repeat and EF-hand domain-containing protein 1
    Protein Accession:
    Q9NU02
    Secondary Accessions:
    • B3KUQ0
    • Q9H6Y9

    Protein attributes for ANKEF1 Gene

    Size:
    776 amino acids
    Molecular mass:
    86664 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15111.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for ANKEF1 Gene

Post-translational modifications for ANKEF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKEF1 Gene

No data available for DME Specific Peptides for ANKEF1 Gene

Domains & Families for ANKEF1 Gene

Suggested Antigen Peptide Sequences for ANKEF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NU02

UniProtKB/Swiss-Prot:

ANKE1_HUMAN :
  • Contains 1 EF-hand domain.
  • Contains 8 ANK repeats.
Domain:
  • Contains 1 EF-hand domain.
Similarity:
  • Contains 8 ANK repeats.
genes like me logo Genes that share domains with ANKEF1: view

Function for ANKEF1 Gene

Gene Ontology (GO) - Molecular Function for ANKEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with ANKEF1: view
genes like me logo Genes that share phenotypes with ANKEF1: view

Animal Model Products

miRNA for ANKEF1 Gene

miRTarBase miRNAs that target ANKEF1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKEF1 Gene

Localization for ANKEF1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ANKEF1 Gene

Pathways & Interactions for ANKEF1 Gene

SuperPathways for ANKEF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKEF1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKEF1 Gene

Transcripts for ANKEF1 Gene

Unigene Clusters for ANKEF1 Gene

Ankyrin repeat and EF-hand domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKEF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1:
SP2: -
SP3: - - -
SP4: - - - - - - -
SP5:
SP6: - - - -
SP7: - - -
SP8: - - -
SP9:
SP10: -

ExUns: 14
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ANKEF1 Gene

GeneLoc Exon Structure for
ANKEF1
ECgene alternative splicing isoforms for
ANKEF1

Expression for ANKEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKEF1 Gene

mRNA differential expression in normal tissues according to GTEx for ANKEF1 Gene

This gene is overexpressed in Testis (x11.5).

Protein differential expression in normal tissues from HIPED for ANKEF1 Gene

This gene is overexpressed in Spleen (51.4) and Islet of Langerhans (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ANKEF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ANKEF1 Gene:

ANKEF1

SOURCE GeneReport for Unigene cluster for ANKEF1 Gene:

Hs.70903
genes like me logo Genes that share expression patterns with ANKEF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ANKEF1 Gene

Orthologs for ANKEF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKEF1 35
  • 100 (a)
OneToOne
ANKRD5 34
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia ANKEF1 34 35
  • 86.41 (n)
dog
(Canis familiaris)
Mammalia ANKEF1 34 35
  • 86.08 (n)
mouse
(Mus musculus)
Mammalia Ankef1 34 16 35
  • 82.77 (n)
rat
(Rattus norvegicus)
Mammalia Ankef1 34
  • 82.64 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKEF1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKEF1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC416735 34
  • 64.34 (n)
ANKEF1 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKEF1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankef1 34
  • 63.9 (n)
Str.17841 34
zebrafish
(Danio rerio)
Actinopterygii ankef1a 34 35
  • 56.57 (n)
ankef1b 35
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5846 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for ANKEF1 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)
  • 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 ANKEF1 Gene

ENSEMBL:
Gene Tree for ANKEF1 (if available)
TreeFam:
Gene Tree for ANKEF1 (if available)

Paralogs for ANKEF1 Gene

Paralogs for ANKEF1 Gene

(1) SIMAP similar genes for ANKEF1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ANKEF1: view

Variants for ANKEF1 Gene

Sequence variations from dbSNP and Humsavar for ANKEF1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_035609 A breast cancer sample
rs10451728 -- 10,050,996(+) ttcct(C/T)cttct intron-variant
rs111420538 -- 10,045,873(+) AATCA(C/T)GAATC intron-variant
rs111482206 -- 10,042,331(+) CAGTA(-/T)TTTTT intron-variant
rs111502963 -- 10,043,096(+) AATAC(C/T)CTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKEF1 Gene

Variant ID Type Subtype PubMed ID
nsv1063924 CNV gain 25217958
nsv3288 CNV deletion 18451855
nsv522874 CNV loss 19592680
nsv585414 CNV loss 21841781
nsv833918 CNV loss 17160897
nsv833919 CNV gain 17160897

Variation tolerance for ANKEF1 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.28; 88.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKEF1 Gene

Disorders for ANKEF1 Gene

Relevant External Links for ANKEF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKEF1

No disorders were found for ANKEF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKEF1 Gene

Publications for ANKEF1 Gene

  1. Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica. (PMID: 17142250) Raby B.A. … CeledA^n J.C. (Hum. Mol. Genet. 2007) 2 3 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 DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 64
  5. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 3 64

Products for ANKEF1 Gene

Sources for ANKEF1 Gene

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