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    ANKRD29 ankyrin repeat domain 29 [ Homo sapiens (human) ]

    Gene ID: 147463, updated on 23-Nov-2021

    Summary

    Official Symbol
    ANKRD29provided by HGNC
    Official Full Name
    ankyrin repeat domain 29provided by HGNC
    Primary source
    HGNC:HGNC:27110
    See related
    Ensembl:ENSG00000154065
    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
    Broad expression in lung (RPKM 9.3), lymph node (RPKM 4.6) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ANKRD29 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (23598926..23662914, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21178890..21242875, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1 Neighboring gene Sharpr-MPRA regulatory region 2631 Neighboring gene ribosomal protein S10 pseudogene 27 Neighboring gene ribosomal protein L23a pseudogene 77 Neighboring gene laminin subunit alpha 3

    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

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ25053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 29

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001308238.2NP_001295167.1  ankyrin repeat domain-containing protein 29 isoform 2

      See identical proteins and their annotated locations for NP_001295167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010853, AI073766, AK057782, BC030622
      Consensus CDS
      CCDS77164.1
      UniProtKB/Swiss-Prot
      Q8N6D5
      Related
      ENSP00000323387.9, ENST00000322980.13
      Conserved Domains (4) summary
      cd00204
      Location:40165
      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:50141
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1466
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4576
      ANK; ANK repeat [structural motif]
    2. NM_173505.4NP_775776.2  ankyrin repeat domain-containing protein 29 isoform 1

      See identical proteins and their annotated locations for NP_775776.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010853, AI073766, AK057782, BC030622, BM680506
      Consensus CDS
      CCDS11879.1
      UniProtKB/Swiss-Prot
      Q8N6D5
      Related
      ENSP00000468354.1, ENST00000592179.6
      Conserved Domains (4) summary
      cd00204
      Location:40165
      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:50141
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:147198
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4576
      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_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      23598926..23662914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025561.1XP_016881050.1  ankyrin repeat domain-containing protein 29 isoform X4

    2. XM_011525830.2XP_011524132.1  ankyrin repeat domain-containing protein 29 isoform X1

      See identical proteins and their annotated locations for XP_011524132.1

      Conserved Domains (4) summary
      cd00204
      Location:40165
      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:50140
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1466
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4576
      ANK; ANK repeat [structural motif]
    3. XM_011525831.3XP_011524133.1  ankyrin repeat domain-containing protein 29 isoform X2

      Conserved Domains (4) summary
      cd00204
      Location:2123
      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:899
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:105156
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:334
      ANK; ANK repeat [structural motif]
    4. XM_011525832.3XP_011524134.1  ankyrin repeat domain-containing protein 29 isoform X3

      Conserved Domains (4) summary
      cd00204
      Location:58181
      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:191
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:97148
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:2859
      ANK; ANK repeat [structural motif]

    RNA

    1. XR_001753147.1 RNA Sequence

    2. XR_001753143.1 RNA Sequence

    3. XR_935202.1 RNA Sequence

    4. XR_935199.1 RNA Sequence

    5. XR_001753146.1 RNA Sequence

    6. XR_935203.1 RNA Sequence

    7. XR_935200.1 RNA Sequence

    8. XR_935195.1 RNA Sequence

    9. XR_001753144.1 RNA Sequence

    10. XR_001753145.1 RNA Sequence

    11. XR_935197.1 RNA Sequence

    12. XR_935196.1 RNA Sequence

    13. XR_935201.2 RNA Sequence

    14. XR_935204.1 RNA Sequence

    15. XR_935198.1 RNA Sequence

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