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    ANKRD20A1 ankyrin repeat domain 20 family member A1 [ Homo sapiens (human) ]

    Gene ID: 84210, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD20A1provided by HGNC
    Official Full Name
    ankyrin repeat domain 20 family member A1provided by HGNC
    Primary source
    HGNC:HGNC:23665
    See related
    Ensembl:ENSG00000260691 AllianceGenome:HGNC:23665
    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
    Also known as
    ANKRD20A
    Summary
    Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 5.3), lung (RPKM 0.9) and 14 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ANKRD20A1 in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (67858931..67902394)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (43016231..43059647, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (67926377..67969840)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900280 Neighboring gene uncharacterized LOC101928608 Neighboring gene RNA, U6 small nuclear 368, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:70837488-70837989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:70895397-70895980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:70895981-70896564 Neighboring gene uncharacterized LOC124902173 Neighboring gene Zn regulated GTPase metalloprotein activator 1C Neighboring gene forkhead box D4 like 3

    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. Seroreactivity against PTEN-induced putative kinase 1 (PINK1) in Turkish patients with Behçet's disease. Vural B, et al. Clin Exp Rheumatol, 2009 Mar-Apr. PMID 19796537
    2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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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    Homology

    Clone Names

    • DKFZp434A171

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 20A1
    Names
    ankyrin repeat domain 20A
    epididymis secretory sperm binding protein

    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_032250.5 → NP_115626.2  ankyrin repeat domain-containing protein 20A1

      See identical proteins and their annotated locations for NP_115626.2

      Status: VALIDATED

      Source sequence(s)
      BX649567
      Consensus CDS
      CCDS6620.1
      UniProtKB/Swiss-Prot
      Q5SQ80, Q5TYW2, Q5VUR7, Q9H0H6
      UniProtKB/TrEMBL
      A0A384NKR9, B2RTT7
      Related
      ENSP00000477695.1, ENST00000562196.6
      Conserved Domains (4) summary
      cd00204
      Location:61 → 186
      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 ...
      sd00045
      Location:99 → 130
      ANK; ANK repeat [structural motif]
      pfam09731
      Location:291 → 690
      Mitofilin; Mitochondrial inner membrane protein
      pfam14915
      Location:514 → 805
      CCDC144C; CCDC144C protein coiled-coil region

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      67858931..67902394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      43016231..43059647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TYW2.1 GenPept UniProtKB/Swiss-Prot:Q5TYW2

    Gene LinkOut

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

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