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DNAAF9 dynein axonemal assembly factor 9 [ Homo sapiens (human) ]

Gene ID: 25943, updated on 5-Mar-2024

Summary

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Official Symbol
DNAAF9provided by HGNC
Official Full Name
dynein axonemal assembly factor 9provided by HGNC
Primary source
HGNC:HGNC:17721
See related
Ensembl:ENSG00000088854 MIM:614146; AllianceGenome:HGNC:17721
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
C20orf194
Summary
This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in brain (RPKM 9.9), testis (RPKM 8.0) and 25 other tissues See more
Orthologs
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Genomic context

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See DNAAF9 in Genome Data Viewer
Location:
20p13
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3249306..3407669, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3280252..3438588, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3229952..3388316, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3183418-3184016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3189739-3190387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12615 Neighboring gene DDRGK domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3210499-3211281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3228779-3229524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3229525-3230269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3230929-3231429 Neighboring gene inosine triphosphatase Neighboring gene solute carrier family 4 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3276431-3276932 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene RNA, U6 small nuclear 1019, pseudogene Neighboring gene small nucleolar RNA U3 Neighboring gene UBE2V1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17478 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:3389216-3389717 Neighboring gene uncharacterized LOC105372508 Neighboring gene uncharacterized LOC105372509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12621 Neighboring gene splicing factor 3a, subunit 3 pseudogene 1 Neighboring gene attractin

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. Shulin packages axonemal outer dynein arms for ciliary targeting. Mali GR, et al. Science, 2021 Feb 26. PMID 33632841, Free PMC Article
  2. Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. Thompson AJ, et al. J Hepatol, 2012 Feb. PMID 21703177, Free PMC Article
  3. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Kobayashi H, et al. Am J Hum Genet, 2011 Jul 15. PMID 21683323, Free PMC Article
  4. A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20. Fossey SC, et al. Genomics, 2001 Aug. PMID 11549316
  5. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Wright KJ, et al. Genes Dev, 2011 Nov 15. PMID 22085962, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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
Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients.
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)

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

  • MGC117480, MGC141683, DKFZp434N061

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
dynein axonemal assembly factor 9
Names
shulin
uncharacterized protein C20orf194

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.

Genomic

  1. NG_031974.2 RefSeqGene

    Range
    4994..163357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009984.3 → NP_001009984.1  dynein axonemal assembly factor 9

    See identical proteins and their annotated locations for NP_001009984.1

    Status: VALIDATED

    Source sequence(s)
    AI214589, AL109976, AL117334, BC122529, CN285135, DB504338
    Consensus CDS
    CCDS42851.1
    UniProtKB/Swiss-Prot
    Q5TEA3, Q66K86, Q6P2R9, Q9UFX9
    Related
    ENSP00000252032.9, ENST00000252032.10

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    3249306..3407669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260684.5 → XP_005260741.1  dynein axonemal assembly factor 9 isoform X1

  2. XM_011529208.4 → XP_011527510.1  dynein axonemal assembly factor 9 isoform X3

    See identical proteins and their annotated locations for XP_011527510.1

  3. XM_005260687.6 → XP_005260744.1  dynein axonemal assembly factor 9 isoform X3

    See identical proteins and their annotated locations for XP_005260744.1

  4. XM_047440081.1 → XP_047296037.1  dynein axonemal assembly factor 9 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    3280252..3438588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323312.1 → XP_054179287.1  dynein axonemal assembly factor 9 isoform X1

  2. XM_054323314.1 → XP_054179289.1  dynein axonemal assembly factor 9 isoform X3

  3. XM_054323315.1 → XP_054179290.1  dynein axonemal assembly factor 9 isoform X3

  4. XM_054323313.1 → XP_054179288.1  dynein axonemal assembly factor 9 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TEA3.1 GenPept UniProtKB/Swiss-Prot:Q5TEA3

Gene LinkOut

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

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