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    ANKRD61 ankyrin repeat domain 61 [ Homo sapiens (human) ]

    Gene ID: 100310846, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD61provided by HGNC
    Official Full Name
    ankyrin repeat domain 61provided by HGNC
    Primary source
    HGNC:HGNC:22467
    See related
    Ensembl:ENSG00000157999 AllianceGenome:HGNC:22467
    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
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 3.5), bone marrow (RPKM 1.7) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD61 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6031376..6036552)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6149151..6154327)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6071007..6076183)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6047103-6047794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25615 Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 2 Neighboring gene small nucleolar RNA, H/ACA box 80D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6065935-6066435 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene RNA, 7SL, cytoplasmic 851, pseudogene Neighboring gene RNA, U6 small nuclear 218, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Ankyrins, multifunctional proteins involved in many cellular pathways. Hryniewicz-Jankowska A, et al. Folia Histochem Cytobiol, 2002. PMID 12219834
    2. The ankyrin repeat: a diversity of interactions on a common structural framework. Sedgwick SG, et al. Trends Biochem Sci, 1999 Aug. PMID 10431175
    3. The ankyrin repeat as molecular architecture for protein recognition. Mosavi LK, et al. Protein Sci, 2004 Jun. PMID 15152081, Free PMC Article
    4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. Ankyrin repeat: a unique motif mediating protein-protein interactions. Li J, et al. Biochemistry, 2006 Dec 26. PMID 17176038

    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)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 61

    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_001271700.2 → NP_001258629.1  ankyrin repeat domain-containing protein 61

      See identical proteins and their annotated locations for NP_001258629.1

      Status: VALIDATED

      Source sequence(s)
      AC005995, AI221268
      Consensus CDS
      CCDS64590.1
      UniProtKB/Swiss-Prot
      A6NGH8
      Related
      ENSP00000386502.1, ENST00000409061.2
      Conserved Domains (5) summary
      cd00204
      Location:166 → 298
      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:172 → 275
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:263 → 317
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:169 → 198
      ANK; ANK repeat [structural motif]
      cl02529
      Location:32 → 115
      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 ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6031376..6036552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6149151..6154327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGH8.2 GenPept UniProtKB/Swiss-Prot:A6NGH8

    Gene LinkOut

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

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