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

Gene ID: 79998, updated on 23-Nov-2021

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
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Genomic context

See ANKRD53 in Genome Data Viewer
Location:
2p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70978445..70986677)
105.20201022 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 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
enables protein binding IPI
Inferred from Physical Interaction
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
PubMed 
located_in 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)

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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_001115116.2NP_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
    Related
    ENSP00000407004.1, ENST00000457410.5
    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 Updated Annotation Release 109.20211119

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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