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DNAH1 dynein axonemal heavy chain 1 [ Homo sapiens (human) ]

Gene ID: 25981, updated on 4-Nov-2018

Summary

Official Symbol
DNAH1provided by HGNC
Official Full Name
dynein axonemal heavy chain 1provided by HGNC
Primary source
HGNC:HGNC:2940
See related
Ensembl:ENSG00000114841 MIM:603332; Vega:OTTHUMG00000158378
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
HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-1
Summary
This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
Expression
Broad expression in testis (RPKM 4.1), bone marrow (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See DNAH1 in Genome Data Viewer
Location:
3p21.1
Exon count:
81
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (52313010..52400497)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52350335..52434513)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene GLYCTK antisense RNA 1 Neighboring gene glycerate kinase Neighboring gene microRNA 135a-1 Neighboring gene protein phosphatase 2 regulatory subunit B'gamma pseudogene Neighboring gene BRCA1 associated protein 1 Neighboring gene PHD finger protein 7

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

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 37
MedGen: C4539798 OMIM: 617577 GeneReviews: Not available
Compare labs
SPERMATOGENIC FAILURE 18
MedGen: C4539783 OMIM: 617576 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
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

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 
microtubule motor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cilium movement involved in cell motility IEA
Inferred from Electronic Annotation
more info
 
cilium-dependent cell motility NAS
Non-traceable Author Statement
more info
PubMed 
epithelial cilium movement IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner dynein arm assembly IDA
Inferred from Direct Assay
more info
PubMed 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axonemal dynein complex NAS
Non-traceable Author Statement
more info
PubMed 
axoneme IMP
Inferred from Mutant Phenotype
more info
PubMed 
dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner dynein arm IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dynein heavy chain 1, axonemal
Names
axonemal beta dynein heavy chain 1
ciliary dynein heavy chain 1
dynein, axonemal, heavy polypeptide 1
heat shock regulated protein 1
testicular tissue protein Li 60

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_052911.1 RefSeqGene

    Range
    5001..89179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015512.4NP_056327.4  dynein heavy chain 1, axonemal

    Status: REVIEWED

    Source sequence(s)
    AB037831, AW016677, DN831799
    Consensus CDS
    CCDS46842.1
    UniProtKB/Swiss-Prot
    Q9P2D7
    UniProtKB/TrEMBL
    A0A140VJI6
    Related
    ENSP00000401514.2, OTTHUMP00000212848, ENST00000420323.6, OTTHUMT00000350816
    Conserved Domains (5) summary
    pfam03028
    Location:35604253
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:10161417
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:28313180
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:32063421
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:15431773
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    52313010..52400497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006132.1XP_016861621.1  dynein heavy chain 1, axonemal isoform X4

  2. XM_017006133.1XP_016861622.1  dynein heavy chain 1, axonemal isoform X5

  3. XM_017006129.1XP_016861618.1  dynein heavy chain 1, axonemal isoform X1

    Conserved Domains (5) summary
    pfam03028
    Location:35834276
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:10161417
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:28543203
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:32293444
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:15431773
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. XM_017006131.1XP_016861620.1  dynein heavy chain 1, axonemal isoform X3

  5. XM_017006130.1XP_016861619.1  dynein heavy chain 1, axonemal isoform X2

    UniProtKB/Swiss-Prot
    Q9P2D7
    UniProtKB/TrEMBL
    A0A140VJI6
    Conserved Domains (5) summary
    pfam03028
    Location:35604253
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:10161417
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:28313180
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:32063421
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:15431773
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_001740098.1 RNA Sequence

  2. XR_001740099.1 RNA Sequence

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