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

Gene ID: 25943, updated on 23-Nov-2021

Summary

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
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

See DNAAF9 in Genome Data Viewer
Location:
20p13
Exon count:
39
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (3249302..3407669, complement)
105.20201022 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 DDRGK domain containing 1 Neighboring gene inosine triphosphatase Neighboring gene solute carrier family 4 member 11 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene RNA, U6 small nuclear 1019, pseudogene Neighboring gene UBE2V1 pseudogene 1 Neighboring gene uncharacterized LOC105372508 Neighboring gene uncharacterized LOC105372509 Neighboring gene splicing factor 3a, subunit 3 pseudogene 1 Neighboring gene attractin

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

Associated conditions

Description Tests
Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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
    5001..163361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009984.3NP_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
    UniProtKB/TrEMBL
    Q0IIP3
    Related
    ENSP00000252032.9, ENST00000252032.10

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    3249302..3407669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260684.4XP_005260741.1  dynein axonemal assembly factor 9 isoform X1

  2. XM_017027783.2XP_016883272.1  dynein axonemal assembly factor 9 isoform X2

  3. XM_011529208.3XP_011527510.1  dynein axonemal assembly factor 9 isoform X3

    See identical proteins and their annotated locations for XP_011527510.1

  4. XM_005260687.5XP_005260744.1  dynein axonemal assembly factor 9 isoform X3

    See identical proteins and their annotated locations for XP_005260744.1

RNA

  1. XR_001754226.2 RNA Sequence

  2. XR_001754227.1 RNA Sequence

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