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Aliases for ANKRD53 Gene

Aliases for ANKRD53 Gene

  • Ankyrin Repeat Domain 53 2 3 5

External Ids for ANKRD53 Gene

Previous GeneCards Identifiers for ANKRD53 Gene

  • GC02P071059
  • GC02P071205
  • GC02P070942

Summaries for ANKRD53 Gene

GeneCards Summary for ANKRD53 Gene

ANKRD53 (Ankyrin Repeat Domain 53) is a Protein Coding gene.

UniProtKB/Swiss-Prot for ANKRD53 Gene

  • Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization.

Additional gene information for ANKRD53 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD53 Gene

Genomics for ANKRD53 Gene

Regulatory Elements for ANKRD53 Gene

Enhancers for ANKRD53 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
GH02H070080 1.4 ENCODE dbSUPER 30.4 -890.8 -890819 11.6 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 RCOR2 TIA1 PCBP1-AS1 TEX261 ANKRD53 GMCL1 C2orf42 CLEC4F MXD1 SNRNP27 NAGK
GH02H070139 1.7 Ensembl ENCODE dbSUPER 20.3 -835.3 -835345 5.5 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A TIA1 TEX261 ANKRD53 MPHOSPH10 PCBP1-AS1 FAM136A ASPRV1 PCYOX1 LINC01816 GC02P070210
GH02H070120 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.5 -852.6 -852576 7.5 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF766 ZNF207 JUNB ZNF592 TIA1 ANKRD53 TEX261 FAM136A PCYOX1 C2orf42 PCBP1-AS1 GC02P070121 LINC01816
GH02H071226 1 ENCODE 21.4 +249.8 249772 1.8 HDGF PKNOX1 ATF1 FOXA2 SIN3A FEZF1 GLI4 ZNF2 ZBTB7B YY1 TEX261 ANKRD53 MPHOSPH10 TIA1 PAIP2B ENSG00000233870
GH02H070246 1.1 ENCODE 18.1 -729.0 -728950 3.3 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 TEX261 PCBP1-AS1 CLEC4F GMCL1 ANKRD53 MPHOSPH10 CD207 TIA1 NAGK C2orf42
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKRD53 on UCSC Golden Path with GeneCards custom track

Promoters for ANKRD53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000291453 90 1001 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 FOS ATF7 SP3 SP5
ENSR00000118743 1690 1001 POLR2A ZNF7

Genomic Locations for ANKRD53 Gene

Genomic Locations for ANKRD53 Gene
chr2:70,977,210-70,986,674
(GRCh38/hg38)
Size:
9,465 bases
Orientation:
Plus strand
chr2:71,205,510-71,212,629
(GRCh37/hg19)

Genomic View for ANKRD53 Gene

Genes around ANKRD53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD53 Gene

Proteins for ANKRD53 Gene

  • Protein details for ANKRD53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9V6-ANR53_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 53
    Protein Accession:
    Q8N9V6
    Secondary Accessions:
    • Q8IYP8

    Protein attributes for ANKRD53 Gene

    Size:
    530 amino acids
    Molecular mass:
    59571 Da
    Quaternary structure:
    • Interacts with PSRC1; recruited by PSRC1 to the spindle during mitosis (PubMed:26820536).

    Alternative splice isoforms for ANKRD53 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD53 Gene

Post-translational modifications for ANKRD53 Gene

Other Protein References for ANKRD53 Gene

No data available for DME Specific Peptides for ANKRD53 Gene

Domains & Families for ANKRD53 Gene

Gene Families for ANKRD53 Gene

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

Protein Domains for ANKRD53 Gene

Suggested Antigen Peptide Sequences for ANKRD53 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD53: view

No data available for UniProtKB/Swiss-Prot for ANKRD53 Gene

Function for ANKRD53 Gene

Molecular function for ANKRD53 Gene

UniProtKB/Swiss-Prot Function:
Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization.

Phenotypes From GWAS Catalog for ANKRD53 Gene

Gene Ontology (GO) - Molecular Function for ANKRD53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26820536
genes like me logo Genes that share ontologies with ANKRD53: view
genes like me logo Genes that share phenotypes with ANKRD53: view

Animal Models for ANKRD53 Gene

MGI Knock Outs for ANKRD53:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD53 Gene

Localization for ANKRD53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD53 Gene

Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes at the spindle around the centrosome at prophase and prometaphase and at the spindle poles at metaphase and anaphase (PubMed:26820536). {ECO:0000269 PubMed:26820536}.

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 ANKRD53 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for ANKRD53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 26820536
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IDA,IEA 26820536
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ANKRD53: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANKRD53 Gene

Pathways & Interactions for ANKRD53 Gene

SuperPathways for ANKRD53 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007080 mitotic metaphase plate congression IMP 26820536
GO:0031116 positive regulation of microtubule polymerization IMP 26820536
GO:0051301 cell division IEA --
GO:0060236 regulation of mitotic spindle organization IMP 26820536
genes like me logo Genes that share ontologies with ANKRD53: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD53 Gene

Drugs & Compounds for ANKRD53 Gene

No Compound Related Data Available

Transcripts for ANKRD53 Gene

Unigene Clusters for ANKRD53 Gene

Ankyrin repeat domain 53:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD53 Gene

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

Relevant External Links for ANKRD53 Gene

GeneLoc Exon Structure for
ANKRD53
ECgene alternative splicing isoforms for
ANKRD53

Expression for ANKRD53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD53 Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD53 Gene

This gene is overexpressed in Testis (x12.2).

Protein differential expression in normal tissues from HIPED for ANKRD53 Gene

This gene is overexpressed in Plasma (59.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ANKRD53 Gene



Protein tissue co-expression partners for ANKRD53 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKRD53 Gene:

ANKRD53

SOURCE GeneReport for Unigene cluster for ANKRD53 Gene:

Hs.512744

Evidence on tissue expression from TISSUES for ANKRD53 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ANKRD53: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD53 Gene

Orthologs for ANKRD53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD53 33 34
  • 99.12 (n)
cow
(Bos Taurus)
Mammalia ANKRD53 33 34
  • 80.13 (n)
dog
(Canis familiaris)
Mammalia ANKRD53 33 34
  • 77.73 (n)
mouse
(Mus musculus)
Mammalia Ankrd53 33 16 34
  • 70.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD53 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD53 34
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732970 33
  • 48.64 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC567792 33
  • 48.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
Species where no ortholog for ANKRD53 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 ANKRD53 Gene

ENSEMBL:
Gene Tree for ANKRD53 (if available)
TreeFam:
Gene Tree for ANKRD53 (if available)

Paralogs for ANKRD53 Gene

(2) SIMAP similar genes for ANKRD53 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ANKRD53: view

No data available for Paralogs for ANKRD53 Gene

Variants for ANKRD53 Gene

Sequence variations from dbSNP and Humsavar for ANKRD53 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000188860 -- 70,985,812(+) TCAGG(A/G)AGGCA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000461676 -- 70,980,354(+) TAACA(C/G)ACCTA intron-variant
rs1001736976 -- 70,979,145(+) ACTGC(C/T)CTCGC intron-variant, reference, synonymous-codon
rs1002104412 -- 70,979,342(+) CGACA(A/T)GGTAA intron-variant, reference, missense
rs1002120408 -- 70,983,933(+) AATGG(C/T)GGTGG intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD53 Gene

Variant ID Type Subtype PubMed ID
nsv517881 CNV loss 19592680
nsv1146915 OTHER inversion 26484159
nsv1013232 CNV gain 25217958

Variation tolerance for ANKRD53 Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.12; 80.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD53 Gene

Disorders for ANKRD53 Gene

Relevant External Links for ANKRD53

Genetic Association Database (GAD)
ANKRD53
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD53

No disorders were found for ANKRD53 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD53 Gene

Publications for ANKRD53 Gene

  1. ANKRD53 interacts with DDA3 and regulates chromosome integrity during mitosis. (PMID: 26820536) Kim S … Jang CY (Biochemical and biophysical research communications 2016) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T … Hayashizaki Y (Cell 2010) 3 60
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 60

Products for ANKRD53 Gene

Sources for ANKRD53 Gene

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