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ANKRD34A ankyrin repeat domain 34A [ Homo sapiens (human) ]

Gene ID: 284615, updated on 5-Mar-2024

Summary

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Official Symbol
ANKRD34Aprovided by HGNC
Official Full Name
ankyrin repeat domain 34Aprovided by HGNC
Primary source
HGNC:HGNC:27639
See related
Ensembl:ENSG00000272031 AllianceGenome:HGNC:27639
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
ANKRD34
Expression
Biased expression in brain (RPKM 4.5), prostate (RPKM 0.7) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
1q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145959441..145964575, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145076256..145081392, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145470515..145475647)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gonadotropin releasing hormone receptor 2 (pseudogene) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 Neighboring gene RNA binding motif protein 8A Neighboring gene LIX1L antisense RNA 1 Neighboring gene limb and CNS expressed 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1270 Neighboring gene conserved acetylation island sequence C12 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145473321-145474156 Neighboring gene Sharpr-MPRA regulatory region 4010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1621 Neighboring gene RNA polymerase III subunit GL Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145458517-145459016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1622 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:145455010-145456209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1628 Neighboring gene thioredoxin interacting protein

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. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Boldt K, et al. Nat Commun, 2016 May 13. PMID 27173435, Free PMC Article
  2. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  3. OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, et al. Science, 2022 Mar 11. PMID 35271311, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp761F202

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in pi-body IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 34A
Names
ankyrin repeat domain 34

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_001039888.4 → NP_001034977.1  ankyrin repeat domain-containing protein 34A

    See identical proteins and their annotated locations for NP_001034977.1

    Status: VALIDATED

    Source sequence(s)
    AC243547, AK128050, BM723295, DA081864
    Consensus CDS
    CCDS72874.1
    UniProtKB/Swiss-Prot
    B3KSU3, Q69YU3
    Related
    ENSP00000475189.1, ENST00000606888.3
    Conserved Domains (4) summary
    cd00204
    Location:8 → 131
    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:9 → 108
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:96 → 131
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:8 → 35
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    145959441..145964575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    145076256..145081392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q69YU3.2 GenPept UniProtKB/Swiss-Prot:Q69YU3

Gene LinkOut

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

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