Aliases for ANKEF1 Gene

Aliases for ANKEF1 Gene

  • Ankyrin Repeat And EF-Hand Domain Containing 1 2 3 5
  • Ankyrin Repeat And EF-Hand Domain-Containing Protein 1 3 4
  • Ankyrin Repeat Domain-Containing Protein 5 3 4
  • ANKRD5 3 4
  • Ankyrin Repeat Domain 5 2
  • DJ839B4.6 2
  • FLJ21669 2
  • ANKEF1 5

External Ids for ANKEF1 Gene

Previous HGNC Symbols for ANKEF1 Gene

  • ANKRD5

Previous GeneCards Identifiers for ANKEF1 Gene

  • GC20P010016
  • GC20P009972

Summaries for ANKEF1 Gene

GeneCards Summary for ANKEF1 Gene

ANKEF1 (Ankyrin Repeat And EF-Hand Domain Containing 1) is a Protein Coding gene. Diseases associated with ANKEF1 include Hemifacial Microsomia. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for ANKEF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKEF1 Gene

Genomics for ANKEF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKEF1 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
GH20J010034 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 613.2 +49.1 49075 1.6 HNRNPL ZNF629 TFE3 RFX1 ZNF692 RCOR2 TARDBP ZIC2 RBFOX2 RXRB ANKEF1 SNAP25-AS1 ENSG00000235036 piR-33422-245 piR-41838-016 SNAP25
GH20J009991 Promoter 0.4 EPDnew 600.7 -0.1 -57 0.1 MNT ANKEF1 PARAL1 L13714-275 PAK5
GH20J009986 Promoter 0.3 Ensembl 605.7 +0.8 775 0.6 PARAL1 ANKEF1 SNAP25-AS1 piR-48209-404 SNAP25
GH20J009988 Promoter 0.3 Ensembl 600.7 +2.0 1975 0.2 ANKEF1 SNAP25-AS1 PARAL1 piR-48209-404 SNAP25
GH20J009987 Promoter 0.3 Ensembl 600.7 +1.5 1475 0.4 ANKEF1 PARAL1 SNAP25-AS1 piR-48209-404 SNAP25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKEF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKEF1

Genomic Locations for ANKEF1 Gene

Genomic Locations for ANKEF1 Gene
chr20:9,986,126-10,058,303
(GRCh38/hg38)
Size:
72,178 bases
Orientation:
Plus strand
chr20:9,966,774-10,037,410
(GRCh37/hg19)
Size:
70,637 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=Truncated N-terminus.; 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

Gene Families for ANKEF1 Gene

Protein Domains for ANKEF1 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for ANKEF1 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 5 (ANKR5_HUMAN)
  • Ankyrin repeat domain 5 (Q8TCA8_HUMAN)
genes like me logo Genes that share domains with ANKEF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKEF1 Gene

Function for ANKEF1 Gene

Phenotypes From GWAS Catalog 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 --
GO:0005515 protein 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

CRISPR Products

miRNA for ANKEF1 Gene

miRTarBase miRNAs that target ANKEF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKEF1

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

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 ANKEF1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (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 ANKEF1 Gene

Pathways & Interactions for ANKEF1 Gene

PathCards logo

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

Drugs & Compounds for ANKEF1 Gene

No Compound Related Data Available

Transcripts for ANKEF1 Gene

mRNA/cDNA for ANKEF1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKEF1

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

Expression for ANKEF1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for ANKEF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKEF1

SOURCE GeneReport for Unigene cluster for ANKEF1 Gene:

Hs.70903

Evidence on tissue expression from TISSUES for ANKEF1 Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ANKEF1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31
  • 100 (a)
OneToOne
ANKRD5 30
  • 99.66 (n)
Cow
(Bos Taurus)
Mammalia ANKEF1 30 31
  • 86.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKEF1 30 31
  • 86.08 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ankef1 30 17 31
  • 82.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ankef1 30
  • 82.64 (n)
Oppossum
(Monodelphis domestica)
Mammalia ANKEF1 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ANKEF1 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC416735 30
  • 64.34 (n)
ANKEF1 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKEF1 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ankef1 30
  • 63.9 (n)
Str.17841 30
Zebrafish
(Danio rerio)
Actinopterygii ankef1a 30 31
  • 56.57 (n)
OneToMany
ankef1b 31
  • 47 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG5846 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for ANKEF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKEF1: view image

Paralogs for ANKEF1 Gene

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

  • ANKE1_HUMAN
genes like me logo Genes that share paralogs with ANKEF1: view

No data available for Paralogs for ANKEF1 Gene

Variants for ANKEF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKEF1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
VAR_035609 A breast cancer sample p.Lys694Asn
rs524625 - p.Gly412Glu
rs6087119 - p.Arg742Gln
rs652633 - p.Leu324Gln
rs7260784 - p.Pro74Thr

Additional dbSNP identifiers (rs#s) for ANKEF1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for ANKEF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hemifacial microsomia
  • goldenhar syndrome with ipsilateral radial defect
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ANKEF1: view

No data available for 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 BA … Celedón JC (Human molecular genetics 2007) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways. (PMID: 26972000) Rodriguez J … von Kriegsheim A (Cell reports 2016) 3
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M … Stelzl U (Nature methods 2013) 3

Products for ANKEF1 Gene

Sources for ANKEF1 Gene