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ANKEF1 Gene

protein-coding   GIFtS: 37
GCID: GC20P009972

Ankyrin Repeat And EF-Hand Domain Containing 1

(Previous name: ankyrin repeat domain 5)
(Previous symbol: ANKRD5)
  See ANKEF1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ankyrin Repeat And EF-Hand Domain Containing 11 2
ANKRD51 2 3
Ankyrin Repeat Domain 51 2
Ankyrin Repeat Domain-Containing Protein 52 3
Ankyrin Repeat And EF-Hand Domain-Containing Protein 12
dJ839B4.62

External Ids:    HGNC: 158031   Entrez Gene: 639262   Ensembl: ENSG000001326237   UniProtKB: Q9NU023   

Export aliases for ANKEF1 gene to outside databases

Previous GC identifer: GC20P010016


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ANKEF1 Gene:
ANKEF1 (ankyrin repeat and EF-hand domain containing 1) is a protein-coding gene. Diseases associated with ANKEF1 include breast and colorectal cancer. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is RFXANK.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ANKEF1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKEF1 promoter sequence
   Search Chromatin IP Primers for ANKEF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.2   Ensembl cytogenetic band:  20p12.2   HGNC cytogenetic band: 20p12.2

ANKEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKEF1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P009972:  view genomic region     (about GC identifiers)

Start:
9,966,774 bp from pter      End:
10,037,410 bp from pter
Size:
70,637 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ANKE1_HUMAN, Q9NU02 (See protein sequence)
Recommended Name: Ankyrin repeat and EF-hand domain-containing protein 1  
Size: 776 amino acids; 86664 Da
Sequence caution: Sequence=BAB15111.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KUQ0 Q9H6Y9

Explore the universe of human proteins at neXtProt for ANKEF1: NX_Q9NU02

Explore proteomics data for ANKEF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKEF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_071379.3  NP_942093.1  

    ENSEMBL proteins: 
     ENSP00000367644   ENSP00000367631  

    ANKEF1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for ANKEF1 (4 products) 

     
    antibodies-online peptides for ANKEF1

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    antibodies-online antibodies for ANKEF1 (20 products) 

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    antibodies-online kits for ANKEF1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    EFHAND: EF-hand domain containing

    4 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9NU02

    ProtoNet protein and cluster: Q9NU02

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANKE1_HUMAN, Q9NU02
    Similarity: Contains 8 ANK repeats
    Similarity: Contains 1 EF-hand domain


    Find genes that share domains with ANKEF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ANKEF1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ANKEF1

    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ANKEF1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKEF1
    Interactions:

        Search GeneGlobe Interaction Network for ANKEF1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ANKEF1 (Q9NU023 ENSP000003676314) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SSBP3Q9BWW43, ENSP000003603714I2D: score=1 STRING: ENSP00000360371
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ANKEF1 (ANKE1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ANKEF1 gene (2 alternative transcripts): 
    NM_022096.4  NM_198798.1  

    Unigene Cluster for ANKEF1:

    Ankyrin repeat and EF-hand domain containing 1
    Hs.70903  [show with all ESTs]
    Unigene Representative Sequence: NM_022096
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000437504 ENST00000378392 ENST00000378380(uc002wno.3 uc002wnp.3 uc010gbz.3)
    ENST00000488991
    miRNA
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    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for ANKEF1
    OriGene qSTAR qPCR primer pairs in human, mouse for ANKEF1
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      QuantiTect SYBR Green Assays in human, mouse, rat ANKEF1
      QuantiFast Probe-based Assays in human, mouse, rat ANKEF1

    Additional mRNA sequence: 

    AK025322.1 AK074463.1 AK097689.1 BC011591.1 BC022878.2 BC028189.1 

    8 DOTS entries:

    DT.100777182  DT.40281808  DT.120816061  DT.120816251  DT.101958438  DT.91996953  DT.95120053  DT.75195658 

    Selected AceView cDNA sequences (see all 61):

    AK097689 AW473260 BC011591 AI334608 BI825767 NM_022096 AA838167 AW572226 
    BG150570 AI766116 BC028189 AI624994 NM_198798 AA847708 BM796244 AI308165 
    BI826921 AI377859 BI826033 BX116390 BX384173 BG385367 BG338366 BI829479 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANKEF1 (see all 10)    About this scheme

    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:                                                                                                                                                            

    ExUns: 14
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ANKEF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANKEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKEF1 Expression
    About this image

    ANKEF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKEF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.70903
        Custom PCR Arrays for ANKEF1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKEF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ANKEF1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankef11 , 5 ankyrin repeat domain 55
    ankyrin repeat and EF-hand domain containing 11
    82.77(n)1
    85.53(a)1
      2 (67.46 cM)5
    3191961  NM_175667.41  NP_783598.11 
     1365019105 
    chicken
    (Gallus gallus)
    Aves LOC4167351 ankyrin repeat domain-containing protein 5-like 64.34(n)
    58.71(a)
      416735  XM_004935241.1  XP_004935298.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKEF16
    ankyrin repeat and EF-hand domain containing 1
    66(a)
    1 ↔ 1
    1(134499053-134528601)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.178412 Transcribed sequence with weak similarity to protein more 70.67(n)    AL774134.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ankef1a1 ankyrin repeat and EF-hand domain containing 1a 56.57(n)
    50.85(a)
      566413  NM_001025543.1  NP_001020714.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58466
    --
    20(a)
    1 → many
    2L(9956148-9957019)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKEF1 gene
    RFXANK2  ANKRA22  
    1 SIMAP similar gene for ANKEF1 using alignment to 1 protein entry:     ANKE1_HUMAN:
    ANKRD5

    Find genes that share paralogs with ANKEF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    5 SNPs for ANKEF1    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356094
    A breast cancer sample4--see VAR_0356092 K N mis40--------
    rs6526331,2,4
    ----see VAR_0241722 mis40--------
    rs60871191,2,4
    ----see VAR_0335022 mis40--------
    rs5246251,2,4
    ----see VAR_0335012 mis40--------
    rs72607841,2,4
    ----see VAR_0335002 mis40--------

    HapMap Linkage Disequilibrium report for ANKEF1 (9966774 - 10037410 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ANKEF1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKEF1
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKEF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for ANKEF1:    
    About MalaCards
    breast and colorectal cancer


    Find genes that share disorders with ANKEF1           About GenesLikeMe


    Export disorders for ANKEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ANKEF1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica. (PubMed id 17142250)1, 3 Raby B.A....CeledA^n J.C. (Hum. Mol. Genet. 2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (Cell 2010)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 63926 HGNC: 15803 AceView: ANKRD5 Ensembl:ENSG00000132623 euGenes: HUgn63926
    ECgene: ANKEF1 H-InvDB: ANKEF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANKEF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKEF1 gene:
    Search GeneIP for patents involving ANKEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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