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

    Gene ID: 79998, updated on 10-Dec-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 chromosome alignment; regulation of microtubule cytoskeleton organization; and regulation of mitotic cytokinesis. Located in spindle pole. [provided by Alliance of Genome Resources, Dec 2024]
    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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    See ANKRD53 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (70978445..70985499)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (70989460..70996513)
    RS_2024_09 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

      UniProtKB/TrEMBL
      C9JQK2
      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

      UniProtKB/TrEMBL
      C9JQK2

    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

      UniProtKB/TrEMBL
      C9JQK2

    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

      UniProtKB/TrEMBL
      C9JQK2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9V6.3 GenPept UniProtKB/Swiss-Prot:Q8N9V6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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