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DNAI3 dynein axonemal intermediate chain 3 [ Homo sapiens (human) ]

Gene ID: 126820, updated on 2-Nov-2024

Summary

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Official Symbol
DNAI3provided by HGNC
Official Full Name
dynein axonemal intermediate chain 3provided by HGNC
Primary source
HGNC:HGNC:30711
See related
Ensembl:ENSG00000162643 MIM:617968; AllianceGenome:HGNC:30711
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
DIC3; WDR63; NYD-SP29
Summary
Enables Arp2/3 complex binding activity. Involved in negative regulation of Arp2/3 complex-mediated actin nucleation and negative regulation of cell migration. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 10.4), adrenal (RPKM 9.4) and 2 other tissues See more
Orthologs
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Genomic context

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See DNAI3 in Genome Data Viewer
Location:
1p22.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (85062327..85133138)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84902959..84973727)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85528010..85598821)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1260 Neighboring gene mucolipin TRP cation channel 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85463659-85464530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1265 Neighboring gene mucolipin TRP cation channel 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85527645-85528145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1266 Neighboring gene microRNA 4423 Neighboring gene NANOG hESC enhancer GRCh37_chr1:85618513-85619014 Neighboring gene synapse defective Rho GTPase homolog 2 Neighboring gene uncharacterized LOC124904207 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:85665814-85666425

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 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A rare deletion in WDR63 in a case of encephalocele has been characterized. Functional study on zebrafish supports role of WDR63 deletion in abnormal neural development.
    Title: Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
  2. These results indicate that WDR63 is a positive enhancer for stem cells from apical papilla osteogenic differentiation and suggest that activation of WDR63 signaling might improve tissue regeneration mediated by MSCs of dental origin.
    Title: Enriched trimethylation of lysine 4 of histone H3 of WDR63 enhanced osteogenic differentiation potentials of stem cells from apical papilla.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30067, RP11-507C22.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Arp2/3 complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables dynein heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inner dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of Arp2/3 complex-mediated actin nucleation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of axonemal dynein complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of inner dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
dynein axonemal intermediate chain 3
Names
WD repeat domain 63
WD repeat-containing protein 63
dynein intermediate chain 3, axonemal
testicular tissue protein Li 225
testis development protein NYD-SP29 (NYD-SP29)

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_001288563.2 → NP_001275492.1  dynein axonemal intermediate chain 3 isoform 2

    See identical proteins and their annotated locations for NP_001275492.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK054629, BX648851, DB075669
    Consensus CDS
    CCDS72818.1
    UniProtKB/Swiss-Prot
    Q8IWG1
    Related
    ENSP00000317463.8, ENST00000326813.12
    Conserved Domains (2) summary
    COG2319
    Location:331 → 754
    WD40; WD40 repeat [General function prediction only]
    cl20817
    Location:780 → 834
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. NM_145172.5 → NP_660155.2  dynein axonemal intermediate chain 3 isoform 1

    See identical proteins and their annotated locations for NP_660155.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC040265, DB075669
    Consensus CDS
    CCDS702.1
    UniProtKB/Swiss-Prot
    A8K988, Q8IWG1, Q96L72, Q96NU4
    UniProtKB/TrEMBL
    A0A140VJZ8
    Related
    ENSP00000294664.6, ENST00000294664.11
    Conserved Domains (1) summary
    COG2319
    Location:370 → 793
    WD40; WD40 repeat [General function prediction only]

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    85062327..85133138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444741.1 → XP_047300697.1  dynein axonemal intermediate chain 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    84902959..84973727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334256.1 → XP_054190231.1  dynein axonemal intermediate chain 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWG1.1 GenPept UniProtKB/Swiss-Prot:Q8IWG1

Gene LinkOut

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

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