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DNAH9 dynein axonemal heavy chain 9 [ Homo sapiens (human) ]

Gene ID: 1770, updated on 12-Aug-2018

Summary

Official Symbol
DNAH9provided by HGNC
Official Full Name
dynein axonemal heavy chain 9provided by HGNC
Primary source
HGNC:HGNC:2953
See related
Ensembl:ENSG00000007174 MIM:603330; Vega:OTTHUMG00000130383
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYH9; HL20; DNEL1; HL-20; Dnahc9; DNAH17L
Summary
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 1.3), lung (RPKM 1.0) and 6 other tissues See more
Orthologs

Genomic context

See DNAH9 in Genome Data Viewer
Location:
17p12
Exon count:
73
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (11598431..11970168)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (11501748..11873065)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 601, pseudogene Neighboring gene shisa family member 6 Neighboring gene uncharacterized LOC101928350 Neighboring gene zinc finger protein 18 Neighboring gene ribosomal protein L21 pseudogene 122 Neighboring gene RNA, U11 small nuclear 2, pseudogene Neighboring gene mitogen-activated protein kinase kinase 4

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
NHGRI GWA Catalog
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
NHGRI GWA Catalog

Pathways from BioSystems

  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0357

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity, minus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
9+2 motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
distal portion of axoneme IDA
Inferred from Direct Assay
more info
PubMed 
dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein heavy chain 9, axonemal
Names
DNAH9 variant protein
axonemal beta dynein heavy chain 9
ciliary dynein heavy chain 9
dynein, axonemal, heavy polypeptide 9

NCBI Reference Sequences (RefSeq)

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_047047.1 RefSeqGene

    Range
    5001..376318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001372.3NP_001363.2  dynein heavy chain 9, axonemal isoform 2

    See identical proteins and their annotated locations for NP_001363.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is the longer transcript, lacking only one of 70 exons (exon 56). Its 5' UTR differs from variant 1. Its encoded protein, isoform 2, uses the same reading frame as isoform 1.
    Source sequence(s)
    AC005701, AF257737, AJ404468
    Consensus CDS
    CCDS11160.1
    UniProtKB/Swiss-Prot
    Q9NYC9
    Related
    ENSP00000262442.3, OTTHUMP00000160924, ENST00000262442.8, OTTHUMT00000252756
    Conserved Domains (8) summary
    pfam03028
    Location:37904476
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:212789
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:12951699
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12775
    Location:24392710
    AAA_7; P-loop containing dynein motor region D3
    pfam12777
    Location:30673410
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:27883055
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:34383650
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:18322062
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_004662.2NP_004653.2  dynein heavy chain 9, axonemal isoform 1

    See identical proteins and their annotated locations for NP_004653.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the shorter transcript. It includes exons 56-70. Its 5' UTR differs from variant 2 since exon 56 is unique to variant 1. Its encoded protein, isoform 1, uses the same reading frame as isoform 2. This isoform is expressed specifically in testis.
    Source sequence(s)
    AC005209, AJ404468, X99947
    Consensus CDS
    CCDS11161.1
    UniProtKB/Swiss-Prot
    Q9NYC9
    UniProtKB/TrEMBL
    Q99499
    Related
    ENSP00000476951.1, ENST00000608377.5
    Conserved Domains (1) summary
    pfam03028
    Location:102788
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    11598431..11970168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523703.2XP_011522005.1  dynein heavy chain 9, axonemal isoform X1

    Conserved Domains (8) summary
    pfam03028
    Location:37904491
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:212789
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:12951699
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12775
    Location:24392710
    AAA_7; P-loop containing dynein motor region D3
    pfam12777
    Location:30673410
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:27883055
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:34383650
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:18322062
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_017024292.2XP_016879781.1  dynein heavy chain 9, axonemal isoform X2

  3. XM_017024294.2XP_016879783.1  dynein heavy chain 9, axonemal isoform X4

  4. XM_017024295.2XP_016879784.1  dynein heavy chain 9, axonemal isoform X5

  5. XM_017024293.1XP_016879782.1  dynein heavy chain 9, axonemal isoform X3

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