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

    Gene ID: 79998, updated on 19-Jun-2019

    Summary

    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
    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
    Expression
    Biased expression in testis (RPKM 4.2), fat (RPKM 1.4) and 11 other tissues See more
    Orthologs

    Genomic context

    See ANKRD53 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70978445..70986677)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71205172..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 RNA, 7SL, cytoplasmic 160, pseudogene Neighboring gene uncharacterized LOC105374795 Neighboring gene testis expressed 261 Neighboring gene uncharacterized LOC105374796 Neighboring gene olfactory receptor family 7 subfamily E member 91 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12056, FLJ36160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic metaphase plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 53

    NCBI Reference Sequences (RefSeq)

    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_001115116.2NP_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
      Q8N9V6
      Related
      ENSP00000353796.3, ENST00000360589.4
      Conserved Domains (4) summary
      cd00204
      Location:136263
      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:144241
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:112160
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:140171
      ANK; ANK repeat [structural motif]
    2. NM_001369683.1NP_001356612.1  ankyrin repeat domain-containing protein 53 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC007040
      Conserved Domains (3) summary
      sd00045
      Location:106137
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:78126
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:110207
      Ank_2; Ankyrin repeats (3 copies)
    3. NM_024933.4NP_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:136263
      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:144241
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:112160
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:140171
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      70978445..70986677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533114.3XP_011531416.1  ankyrin repeat domain-containing protein 53 isoform X2

      Conserved Domains (3) summary
      cd00204
      Location:114206
      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:113206
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:139171
      ANK; ANK repeat [structural motif]
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