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ANKRD53 ankyrin repeat domain 53 [ Homo sapiens (human) ]

Gene ID: 79998, updated on 3-Apr-2024

Summary

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Official Symbol
ANKRD53provided by HGNC
Official Full Name
ankyrin repeat domain 53provided by HGNC
Primary source
HGNC:HGNC:25691
See related
Ensembl:ENSG00000144031 MIM:617009; AllianceGenome:HGNC:25691
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Involved in mitotic metaphase plate congression; regulation of microtubule cytoskeleton organization; and regulation of mitotic cytokinesis. Located in spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 4.2), fat (RPKM 1.4) and 11 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70978445..70985499)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70989460..70996513)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71205575..71212629)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V1 subunit B1 Neighboring gene elongin C pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11614 Neighboring gene RNA, 7SL, cytoplasmic 160, pseudogene Neighboring gene uncharacterized LOC105374795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71211464-71212011 Neighboring gene testis expressed 261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71227938-71228890 Neighboring gene uncharacterized LOC105374796

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ANKRD53 interacts with DDA3 and regulates chromosome integrity during mitosis. Kim S, et al. Biochem Biophys Res Commun, 2016 Feb 12. PMID 26820536
  2. USP9X controls translation efficiency via deubiquitination of eukaryotic translation initiation factor 4A1. Li Z, et al. Nucleic Acids Res, 2018 Jan 25. PMID 29228324, Free PMC Article
  3. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12056, FLJ36160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic metaphase chromosome alignment IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic metaphase chromosome alignment IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of microtubule polymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitotic spindle organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in spindle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 53

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001115116.2 → NP_001108588.1  ankyrin repeat domain-containing protein 53 isoform a

    See identical proteins and their annotated locations for NP_001108588.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC007040, AK093479
    Consensus CDS
    CCDS46321.1
    UniProtKB/Swiss-Prot
    Q8IYP8, Q8N9V6
    Related
    ENSP00000353796.3, ENST00000360589.4
    Conserved Domains (4) summary
    cd00204
    Location:136 → 263
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:144 → 241
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:112 → 160
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:140 → 171
    ANK; ANK repeat [structural motif]

  2. NM_001369683.1 → NP_001356612.1  ankyrin repeat domain-containing protein 53 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC007040
    Consensus CDS
    CCDS92774.1
    UniProtKB/TrEMBL
    C9JZ61
    Related
    ENSP00000407004.1, ENST00000457410.5
    Conserved Domains (3) summary
    sd00045
    Location:106 → 137
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:78 → 126
    Ank_4; Ankyrin repeats (many copies)
    pfam12796
    Location:110 → 207
    Ank_2; Ankyrin repeats (3 copies)

  3. NM_024933.4 → NP_079209.3  ankyrin repeat domain-containing protein 53 isoform b

    See identical proteins and their annotated locations for NP_079209.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC007040, BC035234, DB036445
    Consensus CDS
    CCDS1913.1
    UniProtKB/Swiss-Prot
    Q8N9V6
    Related
    ENSP00000272421.6, ENST00000272421.10
    Conserved Domains (4) summary
    cd00204
    Location:136 → 263
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:144 → 241
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:112 → 160
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:140 → 171
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    70978445..70985499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445905.1 → XP_047301861.1  ankyrin repeat domain-containing protein 53 isoform X3

    Related
    ENSP00000388883.1, ENST00000441349.5

  2. XM_011533114.4 → XP_011531416.1  ankyrin repeat domain-containing protein 53 isoform X1

    Conserved Domains (3) summary
    cd00204
    Location:114 → 206
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:113 → 206
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:139 → 171
    ANK; ANK repeat [structural motif]

  3. XM_047445904.1 → XP_047301860.1  ankyrin repeat domain-containing protein 53 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    70989460..70996513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344007.1 → XP_054199982.1  ankyrin repeat domain-containing protein 53 isoform X3

  2. XM_054344005.1 → XP_054199980.1  ankyrin repeat domain-containing protein 53 isoform X1

  3. XM_054344006.1 → XP_054199981.1  ankyrin repeat domain-containing protein 53 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N9V6.3 GenPept UniProtKB/Swiss-Prot:Q8N9V6

Gene LinkOut

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