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

Gene ID: 147463, updated on 11-Sep-2019

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

Genomic context

See ANKRD29 in Genome Data Viewer
Location:
18q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (23598926..23662914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21179977..21242849, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RIO kinase 3 Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1 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

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25053

General protein information

Preferred Names
ankyrin repeat domain-containing protein 29

NCBI Reference Sequences (RefSeq)

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 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.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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