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    ANKRD46 ankyrin repeat domain 46 [ Homo sapiens (human) ]

    Gene ID: 157567, updated on 8-Apr-2018
    Official Symbol
    ANKRD46provided by HGNC
    Official Full Name
    ankyrin repeat domain 46provided by HGNC
    Primary source
    HGNC:HGNC:27229
    See related
    Ensembl:ENSG00000186106 Vega:OTTHUMG00000164724
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANK-S; GENX-115279
    Summary
    This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in brain (RPKM 15.9), adrenal (RPKM 13.4) and 24 other tissues See more
    Orthologs
    Location:
    8q22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (100509752..100559786, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101521980..101572014, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNF19A-ANKRD46 intergenic CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC105375670 Neighboring gene uncharacterized LOC107986959 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 Neighboring gene sorting nexin 31 Neighboring gene uncharacterized LOC105375671 Neighboring gene uncharacterized LOC105375672

    • 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 Jun 15 11:32:44 2016

    NHGRI GWAS Catalog

    Description
    Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ankyrin repeat domain-containing protein 46
    Names
    ankyrin repeat small protein

    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_001270377.1NP_001257306.1  ankyrin repeat domain-containing protein 46 isoform 1

      See identical proteins and their annotated locations for NP_001257306.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter protein (isoform 1). Variants 1, 2, and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB077205, AK095235, AP000424, DA503253
      Consensus CDS
      CCDS6287.1
      UniProtKB/Swiss-Prot
      Q86W74
      UniProtKB/TrEMBL
      A0A024R9E1, B3KT99
      Related
      ENSP00000335287.3, OTTHUMP00000227300, ENST00000335659.7, OTTHUMT00000379900
      Conserved Domains (2) summary
      cd00204
      Location:15128
      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:1542
      ANK; ANK repeat [structural motif]
    2. NM_001270378.1NP_001257307.1  ankyrin repeat domain-containing protein 46 isoform 1

      See identical proteins and their annotated locations for NP_001257307.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon, compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB077205, AP000424, BC035087
      Consensus CDS
      CCDS6287.1
      UniProtKB/Swiss-Prot
      Q86W74
      UniProtKB/TrEMBL
      A0A024R9E1
      Related
      ENSP00000428388.1, OTTHUMP00000227302, ENST00000520311.5, OTTHUMT00000379902
      Conserved Domains (2) summary
      cd00204
      Location:15128
      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:1542
      ANK; ANK repeat [structural motif]
    3. NM_001270379.1NP_001257308.1  ankyrin repeat domain-containing protein 46 isoform 2

      See identical proteins and their annotated locations for NP_001257308.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses alternate 3' exon structure, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      BC050396, DA503253
      Consensus CDS
      CCDS59109.1
      UniProtKB/Swiss-Prot
      Q86W74
      UniProtKB/TrEMBL
      A0A024R9G2
      Related
      ENSP00000429015.1, OTTHUMP00000227299, ENST00000520552.5, OTTHUMT00000379899
      Conserved Domains (2) summary
      cd00204
      Location:15128
      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:1542
      ANK; ANK repeat [structural motif]
    4. NM_198401.3NP_940683.1  ankyrin repeat domain-containing protein 46 isoform 1

      See identical proteins and their annotated locations for NP_940683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB077205, DA503253
      Consensus CDS
      CCDS6287.1
      UniProtKB/Swiss-Prot
      Q86W74
      UniProtKB/TrEMBL
      A0A024R9E1
      Related
      ENSP00000430056.1, OTTHUMP00000227301, ENST00000519597.5, OTTHUMT00000379901
      Conserved Domains (2) summary
      cd00204
      Location:15128
      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:1542
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      100509752..100559786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716509.1XP_006716572.1  ankyrin repeat domain-containing protein 46 isoform X1

      See identical proteins and their annotated locations for XP_006716572.1

      UniProtKB/Swiss-Prot
      Q86W74
      UniProtKB/TrEMBL
      A0A024R9E1
      Conserved Domains (2) summary
      cd00204
      Location:15128
      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:1542
      ANK; ANK repeat [structural motif]
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