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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
    mouse all
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    Genomic context

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    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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